congenital adrenal hyperplasia

Summary

Summary: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. The most common defect is in STEROID 21-HYDROXYLASE. Other defects occur in STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; or 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES).

Top Publications

  1. ncbi Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings
    Celina C C Cohen-Bendahan
    Department of Child and Adolescent Psychiatry, and Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurosci Biobehav Rev 29:353-84. 2005
  2. ncbi Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    P C White
    Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75390 9063, USA
    Endocr Rev 21:245-91. 2000
  3. ncbi Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effects
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, The Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 88:1760-5. 2003
  4. ncbi Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway
    Ingrid Nermoen
    Faculty Division, Akershus University Hospital, University of Oslo, 1478 Lørenskog, Norway
    Eur J Endocrinol 163:453-9. 2010
  5. ncbi Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?
    Christiaan F Mooij
    Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Center, The Netherlands
    Clin Endocrinol (Oxf) 73:137-46. 2010
  6. pmc Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease
    C A Blanchong
    Children s Research Institute, Columbus, Ohio 43205, USA
    J Exp Med 191:2183-96. 2000
  7. pmc Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
    Louise A Metherell
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, London EC1M 6BQ, United Kingdom
    J Clin Endocrinol Metab 94:3865-71. 2009
  8. ncbi Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
    Wiebke Arlt
    Division of Medical Sciences, Institute of Biomedical Research, Medical School, Birmingham B15 2TT, UK
    Lancet 363:2128-35. 2004
  9. ncbi Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
    Paola Concolino
    Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
    Clin Chem Lab Med 48:1057-62. 2010
  10. ncbi Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
    Endocr J 56:601-8. 2009

Detail Information

Publications310 found, 100 shown here

  1. ncbi Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings
    Celina C C Cohen-Bendahan
    Department of Child and Adolescent Psychiatry, and Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurosci Biobehav Rev 29:353-84. 2005
    ..of studies, including those using clinical populations (concentrating on those most commonly studied, congenital adrenal hyperplasia, androgen insensitivity syndrome, ablatio penis, and cloacal exstrophy), direct measures of hormones ..
  2. ncbi Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    P C White
    Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75390 9063, USA
    Endocr Rev 21:245-91. 2000
    More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency...
  3. ncbi Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effects
    Deborah P Merke
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, The Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 88:1760-5. 2003
    Children with classic congenital adrenal hyperplasia (CAH) have multiple endocrine imbalances, including prenatal glucocorticoid and adrenomedullary deficiency and androgen excess, with possible postnatal iatrogenic glucocorticoid excess, ..
  4. ncbi Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway
    Ingrid Nermoen
    Faculty Division, Akershus University Hospital, University of Oslo, 1478 Lørenskog, Norway
    Eur J Endocrinol 163:453-9. 2010
    Patients with classical congenital adrenal hyperplasia (CAH) require life-long corticosteroid therapy, with uncertain health outcome. Investigations of subjective health status in unselected populations of adult patients are needed.
  5. ncbi Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?
    Christiaan F Mooij
    Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Center, The Netherlands
    Clin Endocrinol (Oxf) 73:137-46. 2010
    ..result of the introduction of treatment with glucocorticoids and mineralocorticoids, now 60 years ago, congenital adrenal hyperplasia has become a lifelong chronic disease...
  6. pmc Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease
    C A Blanchong
    Children s Research Institute, Columbus, Ohio 43205, USA
    J Exp Med 191:2183-96. 2000
    ..An analyses of the RCCX structures in 22 salt-losing, congenital adrenal hyperplasia patients revealed a significant increase in the monomodular structure with a long C4 gene linked to ..
  7. pmc Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
    Louise A Metherell
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, London EC1M 6BQ, United Kingdom
    J Clin Endocrinol Metab 94:3865-71. 2009
    ..Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases...
  8. ncbi Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
    Wiebke Arlt
    Division of Medical Sciences, Institute of Biomedical Research, Medical School, Birmingham B15 2TT, UK
    Lancet 363:2128-35. 2004
    b>Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17alpha-hydroxylase and 21-hydroxylase...
  9. ncbi Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
    Paola Concolino
    Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
    Clin Chem Lab Med 48:1057-62. 2010
    Steroid 21-hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis...
  10. ncbi Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
    Endocr J 56:601-8. 2009
    The aims were assessing liver function tests (LFT) in women with congenital adrenal hyperplasia (CAH) on glucocorticoids...
  11. ncbi Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia
    R J Rijnders
    Division of Obstetrics, Neonatology, and Gynecology, University Medical Center Utrecht, Utrecht, The Netherlands
    Obstet Gynecol 98:374-8. 2001
    ..METHODS: The index case was a pregnant woman who previously delivered a girl with congenital adrenal hyperplasia. The SRY gene as a marker for the fetal Y chromosome was detected in maternal serum and plasma by ..
  12. ncbi Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
    Evangelia Charmandari
    Section on Pediatric Endocrinology, Reproductive and Molecular Biology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Ann N Y Acad Sci 1083:37-53. 2006
    Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism...
  13. ncbi High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia
    N M Stikkelbroeck
    Department of Pediatric Endocrinology, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
    J Clin Endocrinol Metab 86:5721-8. 2001
    In male patients with congenital adrenal hyperplasia, testicular tumors, or so-called adrenal rest tumors, have been described, but their presence in well controlled patients is thought to be rare...
  14. ncbi Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
    V Dolzan
    Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
    Eur J Endocrinol 153:99-106. 2005
    ..spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to ..
  15. ncbi Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
    R Mathur
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi
    J Pediatr Endocrinol Metab 14:27-35. 2001
    b>Congenital adrenal hyperplasia (CAH) is the commonest cause of female pseudohermaphroditism. It is most often due to steroid 21-hydroxylase deficiency resulting from mutations in the CYP21 gene...
  16. ncbi Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)
    Melissa Hines
    Department of Psychology, City University, Northampton Square, London, EC1V 0HB, UK
    J Sex Res 41:75-81. 2004
    ..Women with congenital adrenal hyperplasia (CAH) recalled significantly more male-typical play behavior as children than did unaffected women, ..
  17. ncbi Evaluation of neonatal screening for congenital adrenal hyperplasia
    J W Honour
    Department of Chemical Pathology, University College London Hospitals, Windeyer Building, 46 Cleveland Street, London W1T 4JF, UK
    Horm Res 55:206-11. 2001
    ..The position with respect to neonatal screening for congenital adrenal hyperplasia has been debated for many years...
  18. ncbi High prevalence of reduced fecundity in men with congenital adrenal hyperplasia
    Nicole Reisch
    Endocrinology and Metabolism, University Hospital München, D 80336 MUnchen, Germany
    J Clin Endocrinol Metab 94:1665-70. 2009
    Testicular adrenal rest tumors (TARTs) are regarded to contribute to the high prevalence of subfertility in males with congenital adrenal hyperplasia (CAH).
  19. ncbi Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Hedi L Claahsen-van der Grinten
    Department of Paediatric Endocrinology 833, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands
    Eur J Endocrinol 157:339-44. 2007
    Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital adrenal hyperplasia (CAH), with a reported prevalence of up to 94%...
  20. pmc Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline
    Phyllis W Speiser
    Cohen Children s Medical Center of New York and Hofstra University School of Medicine, New Hyde Park, New York 11040, USA
    J Clin Endocrinol Metab 95:4133-60. 2010
    We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH).
  21. ncbi Genetics of congenital adrenal hyperplasia
    Nils Krone
    Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, Institute of Biomedical Research, Edgbaston, Birmingham, UK
    Best Pract Res Clin Endocrinol Metab 23:181-92. 2009
    b>Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders...
  22. pmc Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients
    Wiebke Arlt
    Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, United Kingdom
    J Clin Endocrinol Metab 95:5110-21. 2010
    No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size.
  23. ncbi Adult consequences of congenital adrenal hyperplasia
    Wiebke Arlt
    Division of Medical Sciences, University of Birmingham, Birmingham, UK
    Horm Res 68:158-64. 2007
    b>Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency accounts for 95% of all CAH cases and is one the most common inborn metabolic disorders...
  24. pmc Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    Dorota Tomalik-Scharte
    School of Clinical and Experimental Medicine, Centre for Endocrinology, Diabetes and Metabolism CEDAM, University of Birmingham, Birmingham B15 2TT, UK
    Eur J Endocrinol 163:919-24. 2010
    Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency (ORD) present with disordered sex development and glucocorticoid deficiency...
  25. ncbi Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia
    Jeremy A King
    Division of Reproductive Endocrinology, Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 91:865-9. 2006
    Concern has been raised regarding the potential impact of chronic glucocorticoid therapy on the bone mineral density (BMD) of patients with congenital adrenal hyperplasia (CAH).
  26. ncbi Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis
    Kalpana Muthusamy
    Knowledge and Encounter Research Unit, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Endocrinol Metab 95:4161-72. 2010
    Treatment for patients with congenital adrenal hyperplasia (CAH) may affect the final height of these patients.
  27. ncbi Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia?
    Peter A Lee
    Section of Pediatric Endocrinology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA
    J Urol 184:1786-92. 2010
    We assess the outcome in 46,XX men with congenital adrenal hyperplasia who were born with Prader 4 or 5 genitalia and assigned male gender at birth.
  28. ncbi Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study
    N S Crouch
    Department of Obstetrics and Gynaecology, Elizabeth Garrett Anderson and Obstetric Hospital, University College London Hospitals, London, UK
    BJU Int 93:135-8. 2004
    To assess sensation in the clitoris and vagina in women with congenital adrenal hyperplasia (CAH) who have previously had genital surgery, and to evaluate sexual function in this group as the latter, and particularly the experience of ..
  29. ncbi Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies)
    Jean Pierre Bercovici
    Department of Endocrinology, Université de Bretagne Occidentale UBO, 29200 Brest, France
    J Steroid Biochem Mol Biol 93:67-72. 2005
    We describe the case of a 20-year-old patient with salt-wasting congenital adrenal hyperplasia (CAH) related to 21-hydroxylase deficiency. Bilateral craggy testicular tumours were found, requiring histological evaluation...
  30. pmc Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency
    Y Higashi
    Department of Biochemistry, Cancer Institute, Tokyo, Japan
    Am J Hum Genet 42:17-25. 1988
    ..2-kb TaqI fragment) whereas that of the B gene (the 3.7-kb TaqI fragment) was relatively constant at two or three copies...
  31. ncbi Sex differences in children's free drawings: a study on girls with congenital adrenal hyperplasia
    M Iijima
    Department of Pediatrics, Juntendo University School of Medicine, Hongo, Tokyo 113-8421, Japan
    Horm Behav 40:99-104. 2001
    ..Analyses were made on the drawings of girls with congenital adrenal hyperplasia (CAH) and unaffected boys and girls, using masculine and feminine indexes...
  32. ncbi Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
    A Wedell
    Rolf Luft Center for Diabetes Research, Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Mol Genet 2:499-504. 1993
    ..Allele-specific PCR was established also for these mutations and used to screen for their presence in the pseudogene. However, the two novel mutations were not found in at least 34 pseudogenes...
  33. ncbi The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Aysenur Okten
    Department of Paediatrics, Karadeniz Technical University, Trabzon, Turkey
    Early Hum Dev 70:47-54. 2002
    b>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excessive androgen exposure in the gestational period and various degrees of masculinization of the external genitalia in female foetuses...
  34. ncbi Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
    Paul F J Koppens
    Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Hum Genet 111:405-10. 2002
    Steroid 21-hydroxylase deficiency, the primary cause of congenital adrenal hyperplasia, is caused by defects of the CYP21A2 gene...
  35. ncbi Masculinized finger length patterns in human males and females with congenital adrenal hyperplasia
    Windy M Brown
    Department of Psychology, City University, London, United Kingdom
    Horm Behav 42:380-6. 2002
    ..Human females with congenital adrenal hyperplasia (CAH) are exposed prenatally to higher than normal levels of adrenal androgens, providing an ..
  36. ncbi Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants
    R Greaves
    Division of Laboratory Services Complex Biochemistry, Women s and Children s Health, Melbourne, Australia
    J Paediatr Child Health 40:233-6. 2004
    ..More importantly, misdiagnosis is devastating for the parents and adds significantly to their distress. Here, we describe two patients with transient genital abnormalities and abnormal biochemical tests...
  37. ncbi Sonography in prenatal diagnosis of congenital adrenal hyperplasia
    Julien Saada
    Maternité Hôpital Necker Enfants Malades, AP HP Université, Cedex, France
    Prenat Diagn 24:627-30. 2004
    b>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21-hydroxylase deficiency...
  38. ncbi Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Lien Trinh
    Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, The Mount Sinai School of Medicine, New York, NY, USA
    J Pediatr Endocrinol Metab 20:883-91. 2007
    ..4 cm) but less than NC (161.3 +/- 5.4 cm, p = 0.01) females. In conclusion, while the patients as a group entered puberty earlier than the general population, SW males entered puberty the earliest and had the most compromised FH outcome...
  39. ncbi Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia
    Helena K Gleeson
    Institute of Endocrinology and Diabetes, The Children s Hospital at Westmead, New South Wales, Australia
    J Paediatr Child Health 44:554-9. 2008
    ..assess the benefits and practicalities of setting up a newborn screening (NBS) program in Australia for congenital adrenal hyperplasia (CAH) through a 2 year pilot screening in ACT/NSW and comparing with case surveillance in other states.
  40. ncbi Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia
    Zeina M Nabhan
    Section of Pediatric Endocrinology Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Pediatrics 120:e304-7. 2007
    The objective of this study was to determine the incidence, specific abnormalities, and clinical significance of upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia.
  41. ncbi High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
    Lourdes Loidi
    Fundación Pública Gallega de Medicina Genómica, Unidad de Medicina Molecular, Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain
    Clin Endocrinol (Oxf) 64:330-6. 2006
    ..To estimate the distribution of mutations and compare them with other European studies. To construct haplotypes linked to a recurrent novel mutation...
  42. ncbi Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia
    F Saygili
    Division of Endocrinology and Metabolism, Ege University, School of Medicine, Izmir, Turkey
    Horm Res 63:270-4. 2005
    Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH) is associated with hyperandrogenemia, chronic anovulation, hirsutism, acne and adrenal hyperplasia...
  43. ncbi Neonatal screening for congenital adrenal hyperplasia
    Perrin C White
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390 9063, USA
    Nat Rev Endocrinol 5:490-8. 2009
    b>Congenital adrenal hyperplasia (CAH) caused by steroid 21-hydroxylase deficiency occurs in 1:16,000-1:20,000 births. If not promptly diagnosed and treated, CAH can cause death in early infancy from shock, hyponatremia and hyperkalemia...
  44. ncbi Ventricular tachycardia in congenital adrenal hyperplasia
    V S Virdi
    Department of Pediatrics, Government Medical College and Hospital, Chandigarh, India
    Anaesth Intensive Care 30:380-1. 2002
    Severe hyperkalaemia in patients with congenital adrenal hyperplasia in association with aggravating factors such as acidosis and hypocalcaemia can cause life-threatening ventricular arrhythmias...
  45. ncbi Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists
    Eftihios Trakakis
    Department of Mother s and Children s Health, National School of Public Health, Athens, Greece
    Obstet Gynecol Surv 64:177-89. 2009
    b>Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in its classical and nonclassical form and is one of the most common autosomal recessive inherited diseases in humans...
  46. ncbi Does preoperative genitography in congenital adrenal hyperplasia cases affect surgical approach to feminizing genitoplasty?
    Brian A VanderBrink
    Department of Urology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana 46202, USA
    J Urol 184:1793-8. 2010
    Genitography has traditionally been an imperative part of radiographic evaluation in females born with congenital adrenal hyperplasia before surgical reconstruction...
  47. ncbi Androgen-related effects on peripheral glucose metabolism in women with congenital adrenal hyperplasia
    F J Paula
    Department of Internal Medicine, School of Medicine, , , Brazil
    Horm Metab Res 26:552-6. 1994
    ..was designed to investigate the influence of androgens on peripheral glucose metabolism in women with congenital adrenal hyperplasia (CAH)...
  48. ncbi Bioelectrical impedance analysis of body fatness in childhood congenital adrenal hyperplasia and its metabolic correlates
    Pinar Isguven
    Department of Pediatric Endocrinology, Ministry of Health Istanbul Goztepe Education and Investigation Hospital, Istanbul, Turkey
    Eur J Pediatr 167:1263-8. 2008
    There is a tendency to adiposity in patients with congenital adrenal hyperplasia (CAH) despite physiological corticosteroid doses. This study investigated body fatness in children with CAH under corticosteroid replacement therapy...
  49. ncbi Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia
    Firat Bayraktar
    Dokuz Eylul University Endocrinology Department, Balcova, 35350 Izmir, Turkey
    Endocr J 51:601-8. 2004
    ..Increased homocysteine levels may contribute to increased cardiovascular disease risk in patients with PCOS. The reason for hyperhomocysteinemia seems to be related to insulin resistance but not high androgen levels...
  50. ncbi From zero to one hundred million in six months: the treatment of azoospermia in congenital adrenal hyperplasia
    J D M Nicopoullos
    Assisted Conception Unit, Chelsea and Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK
    Arch Androl 49:257-63. 2003
    ..The diagnosis of congenital adrenal hyperplasia has variable implications on fertility...
  51. ncbi Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
    Thomas M K Völkl
    Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics and Adolescent Medicine, Friedrich Alexander University of Erlangen Nuremberg, Loschgestrasse 15, 91054 Erlangen, Germany
    Eur J Endocrinol 160:239-47. 2009
    b>Congenital adrenal hyperplasia (CAH) patients are at a higher risk to develop obesity. The role of leptin in CAH is still controversial...
  52. ncbi Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Anne Bachelot
    Department of Endocrinology and Reproductive Medicine, Necker Hospital, AP HP, Paris V University, Paris, France
    Horm Res 67:268-76. 2007
    ..regarding bone mineral density (BMD), metabolism and reproductive function of adult patients with congenital adrenal hyperplasia (CAH)...
  53. ncbi Monitoring of therapy in congenital adrenal hyperplasia
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA, USA
    Clin Chem 56:1245-51. 2010
    b>Congenital adrenal hyperplasia is a group of disorders caused by defects in the adrenal steroidogenic pathways...
  54. ncbi Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Anca Zimmermann
    1st Medical Clinic, Department of Endocrinology and Metabolic Diseases, Johannes Gutenberg University of Mainz, Mainz, Germany
    Horm Res Paediatr 74:41-9. 2010
    ..Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome...
  55. ncbi Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia
    Saroj Nimkarn
    Mount Sinai School of Medicine, New York, NY 10029, USA
    Endocrinol Metab Clin North Am 38:699-718. 2009
    Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH)...
  56. ncbi Brain white matter impairment in congenital adrenal hyperplasia
    Roberto Bergamaschi
    Multiple Sclerosis Center, Service of Neuroradiology, and Department of Neurology of the Neurological Institute C Mondino, Pavia, Italy
    Arch Neurol 63:413-6. 2006
    b>Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. Past reports suggested that brain white matter could be involved in CAH.
  57. ncbi Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency
    A Kochli
    Department of Psychology, University of Haifa, Israel 31905
    Am J Physiol Regul Integr Comp Physiol 288:R1673-81. 2005
    Salt appetite was investigated in 14 patients with congenital adrenal hyperplasia of the salt-wasting form (SW group), 12 patients with the simple virilized form who are not salt losing, and 18 healthy siblings...
  58. ncbi Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus
    Carlo Incorvaia
    Department of Ophthalmology, University of Ferrara, Ferrara, Italy
    Am J Ophthalmol 135:557-9. 2003
    To report a clinical association between congenital adrenal hyperplasia and keratoconus.
  59. ncbi Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    K Müssig
    Department of Endocrinology, Metabolism and Pathobiochemistry, University Hospital of Internal Medicine, University of Tubingen, Tubingen, Germany
    Exp Clin Endocrinol Diabetes 114:208-14. 2006
    b>Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases...
  60. ncbi Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
    N Torres
    Departamento de Patologia Clinica, Faculdade de Ciências M dicas, Universidade Estadual de Campinas, Campinas, SP, Brasil
    Braz J Med Biol Res 36:1311-8. 2003
    Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH)...
  61. ncbi Congenital adrenal hyperplasia in adults
    Richard J Auchus
    Division of Endocrinology and Metabolism, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas 75390 8857, USA
    Curr Opin Endocrinol Diabetes Obes 17:210-6. 2010
    Patients born with congenital adrenal hyperplasia (CAH), the majority of which is 21-hydroxylase deficiency (21OHD), have been studied by pediatric endocrinologists for decades and treated successfully since the pioneering work of Lawson ..
  62. ncbi 24-hour blood pressure profiles in children with congenital adrenal hyperplasia on two different hydrocortisone treatment regimens
    Kaur Liivak
    Department of Paediatrics, University of Tartu, Tartu, Estonia
    J Pediatr Endocrinol Metab 22:511-7. 2009
    To study the effect of two hydrocortisone (HC) treatment regimens on 24-h blood pressure (BP) profiles in children with congenital adrenal hyperplasia (CAH).
  63. ncbi Blood pressure in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Wolfgang Hoepffner
    Hospital for Children and Adolescents, University of Leipzig, Germany
    J Pediatr Endocrinol Metab 19:705-11. 2006
    In patients with congenital adrenal hyperplasia (CAH) recording of blood pressure (BP) must be included in monitoring treatment to detect hypertension.
  64. pmc Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review
    Y Sugino
    Department of Urology, Kyoto University, Graduate School of Medicine, 54 Shogoin Kawahara cho, Sakyo ku, Kyoto, 606 8507, Japan
    J Assist Reprod Genet 23:377-80. 2006
    ..Hormonal examinations led to a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in both patients...
  65. ncbi Lipoid congenital adrenal hyperplasia: pathologic features of the testis
    Sun Ouck Kim
    Department of Urology, Chonnam National University Medical School, Gwangju, Korea
    Urology 75:176-8. 2010
    Lipoid congenital adrenal hyperplasia (lipoid CAH) is a rare disorder of steroid biosynthesis that is caused by a molecular defect in the steroidogenic acute regulatory protein...
  66. ncbi Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
    Roberto Bergamaschi
    Multiple Sclerosis Center, Services of Neuroradiology and Neuroimmunology, and Department of Neurology, Neurological Institute C Mondino, Via Mondino 2, University of Pavia, Via Mondino 2, 27100 Pavia, Italy
    Arch Neurol 61:1953-5. 2004
    b>Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis, generally caused by a total or partial deficiency in 21-hydroxylase, due to a deletion of or mutations in the CYP21 gene (the gene that ..
  67. ncbi Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore
    K Y Loke
    Children s Medical Centre, National University Hospital, Lower Kent Ridge Road, Singapore 119074
    Horm Res 55:179-84. 2001
    b>Congenital adrenal hyperplasia arising from 21-hydroxylase deficiency is associated with mutations in the CYP21 gene on chromosome 6p. This is the first report on the mutational spectrum of the CYP21 gene in Singapore.
  68. ncbi Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation
    Annette Mouritsen
    University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
    Int J Androl 33:521-7. 2010
    b>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with impaired function of the adrenal cortex caused by mutations in the CYP21A2 gene. Deficiency of steroid 21-hydroxylase accounts for 80-95% of CAH cases...
  69. ncbi Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage
    Hedi L Claahsen-van der Grinten
    Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Fertil Steril 89:597-601. 2008
    To evaluate the histological features of testicular tumors and residual testicular parenchyma in male patients with congenital adrenal hyperplasia (CAH) and longstanding bilateral testicular adrenal rest tumors (TART).
  70. ncbi Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades
    Peter A Lee
    Penn State College of Medicine, Milton S Hershey Medical Center, Hershey, PA 17033 0850, USA
    J Pediatr Endocrinol Metab 15:1473-7. 2002
    ..As a background to document changes in genital surgery for females with 21-hydroxylase congenital adrenal hyperplasia, this report is a review of surgical treatment of this most common form of genital ambiguity...
  71. ncbi Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia
    A Martinez-Aguayo
    Endocrinology Unit, Department of Pediatrics, Pontificia Universidad Catolica de Chile, 833 0074, Santiago, Chile
    J Clin Endocrinol Metab 92:4583-9. 2007
    Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest tumors (TART) that may originate during childhood.
  72. ncbi Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception
    Anna Nordenstrom
    Department of Pediatrics, Astrid Lindgren Children s Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 95:3633-40. 2010
    Females with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency are exposed to androgens during fetal development, resulting in virilization of the external genitalia...
  73. ncbi Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors
    Hedi L Claahsen-van der Grinten
    Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Fertil Steril 88:705.e5-8. 2007
    To report repeated successful induction of fertility in an adult male patient with congenital adrenal hyperplasia (CAH) and testicular adrenal rest tumors (TART).
  74. ncbi Gender and sexuality in classic congenital adrenal hyperplasia
    H F Meyer-Bahlburg
    New York State Psychiatric Institute, Columbia University, New York, New York, USA
    Endocrinol Metab Clin North Am 30:155-71, viii. 2001
    ..management of intersex patients has significant implications for 46,XX patients with classic congenital adrenal hyperplasia (CAH) in two respects: (1) the question of genital surgery for reasons other than purely medical ones ..
  75. ncbi Prevalence of testicular microlithiasis in males with congenital adrenal hyperplasia and its association with testicular adrenal rest tumors
    Sukran Poyrazoglu
    Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul, Turkey
    Horm Res Paediatr 73:443-8. 2010
    ..Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions...
  76. ncbi Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency
    L Williamson
    University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    Am J Med Genet A 140:1797-803. 2006
    ..evidence suggests that these mutations cause attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency...
  77. pmc Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    Robert C Wilson
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 90:414-21. 2007
    b>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) occurs worldwide...
  78. ncbi Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency
    S Pang
    Department of Pediatrics, Pediatric Endocrinology, University of Illinois, College of Medicine, Chicago, Illinois, USA
    Endocrinol Metab Clin North Am 30:81-99, vi-vii. 2001
    ..in the understanding of the molecular basis and hormonal phenotype of bona fide 3 beta-HSD deficiency congenital adrenal hyperplasia (CAH)...
  79. ncbi Vaccine tolerance in steroid substituted patients with congenital adrenal hyperplasia
    M Weiss
    Abteilung für Antimikrobielle Therapie und Infektionsimmunologie, Dr von Haunersches Kinderspital, Klinikum Innenstadt der Universität München, Lindwurmstrasse 4, Munich D 80337, Germany 89 5160 4928
    Eur J Med Res 2:290-2. 1997
    The tolerance and side effects of vaccinations were determined in patients with congenital adrenal hyperplasia (CAH) who receive physiological corticosteroid substitution...
  80. ncbi Living with congenital adrenal hyperplasia in Vietnam: a survey of parents
    K L Armstrong
    Goulburn Valley Health, Shepparton, Vic, Australia
    J Pediatr Endocrinol Metab 19:1207-23. 2006
    b>Congenital adrenal hyperplasia (CAH) has the potential to place an enormous burden on families in resource-poor countries, and the aim of this survey was to provide more specific insights into the difficulties faced by families living ..
  81. ncbi Newborn screening for congenital adrenal hyperplasia
    B L Therrell
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    Endocrinol Metab Clin North Am 30:15-30. 2001
    ..It is hoped that newborn screening programs will begin to provide answers to some of these question in addition to their primary function of reducing the morbidity and mortality resulting from CAH...
  82. ncbi Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations
    C J Migeon
    Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Endocrinol Metab Clin North Am 30:193-206. 2001
    ..In the final analysis, a realistic expectation for patients would be a height between the 50th and third percentile of the normal growth curve and, in some cases, slightly below the third percentile when the genetic potential is slight...
  83. ncbi The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia
    Heino F L Meyer-Bahlburg
    New York State Psychiatric Institute and Dept of Psychiatry, Columbia University, 1051 Riverside Drive, NYSPI Unit 15, New York, NY 1003, USA
    J Sex Res 43:364-7. 2006
    ..Recalled Childhood Gender Questionnaire-Revised (RCGQ-R), female version, to 147 adult women with congenital adrenal hyperplasia (CAH) representing three different degrees of prenatal androgenization due to 21-hydroxylase ..
  84. ncbi Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence
    Titania Pasqualini
    Sección de Endocrinología, Crecimiento y Desarrollo, Departamento de Pediatria, Hospital Italiano, Bueno Aires, Argentina
    Medicina (B Aires) 67:253-61. 2007
    b>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW), with residual enzymatic activity (EA) < or = 1% and simple ..
  85. ncbi Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty
    E Charmandari
    London Centre for Paediatric Endocrinology, University College London, United Kingdom W1N 8AA
    J Clin Endocrinol Metab 86:2701-8. 2001
    In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, treatment with glucocorticoid and mineralocorticoid substitution is not always satisfactory...
  86. ncbi Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria
    Kristina A Strnadová
    Department of Pediatrics, 3rd Faculty of Medicine, Charles University, CZ 100 81, Prague, Czech Republic
    Eur J Pediatr 166:1-4. 2007
    This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening...
  87. ncbi Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan
    Aysha Habib Khan
    Department of Pathology, Aga Khan University, Karachi Pakistan
    J Pak Med Assoc 59:643-6. 2009
    Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH)...
  88. ncbi Pioglitazone improves insulin resistance and decreases blood pressure in adult patients with congenital adrenal hyperplasia
    Jeanne Margot Kroese
    Department of Endocrinology General Internal Medicine, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Endocrinol 161:887-94. 2009
    Patients with congenital adrenal hyperplasia (CAH) are chronically treated with supraphysiological doses of glucocorticoids, which are known to induce insulin resistance...
  89. ncbi Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management
    G Pinto
    Pediatric Endocrinology Unit, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, 75743 Paris, France
    J Clin Endocrinol Metab 88:2624-33. 2003
    The phenotype of congenital adrenal hyperplasia (CAH) varies greatly. The purpose of this study was to optimize diagnosis and follow-up by comparing phenotype with genotype...
  90. ncbi Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report
    A H Khan
    Department of Pathology, Aga Khan University Hospital, Karachi
    J Pak Med Assoc 52:287-91. 2002
    To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations.
  91. pmc Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure
    Greta A Mathews
    City University, London, UK
    Horm Behav 55:285-91. 2009
    ..Participants were either exposed to abnormal levels of androgens prenatally due to congenital adrenal hyperplasia (CAH, 40 females, 29 males), or were unaffected relative controls (29 females, 30 males)...
  92. ncbi An update of congenital adrenal hyperplasia
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave L Levy Place, Box 1198, New York, NY 10029, USA
    Ann N Y Acad Sci 1038:14-43. 2004
    b>Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis...
  93. ncbi Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study
    Rossa W K Chiu
    Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR
    Clin Chem 48:778-80. 2002
  94. ncbi Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report
    Paola Concolino
    Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A Gemelli 8, 00168 Rome, Italy
    Clin Chim Acta 402:164-70. 2009
    More than 90% of the cases of Congenital Adrenal Hyperplasia (CAH) are associated with mutations in 21-hydroxylase gene (CYP21A2)...
  95. ncbi A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia
    Gin Sing Won
    Division of Endocrinology and Metabolism, Veterans General Hospital Taipei, and School of Medical Technology and Engineering, National Yang Ming University, Taiwan, ROC
    Metabolism 56:504-7. 2007
    ..To date, more than 50 mutations in the CYP17 gene associated with congenital adrenal hyperplasia have been described...
  96. ncbi A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation
    H Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
    J Endocrinol Invest 31:176-80. 2008
    ..She was diagnosed with non-classic congenital adrenal hyperplasia. In spite of treatment with dexamethasone and fludrocortisone in doses that suppressed adrenal ..
  97. ncbi The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia
    Ali Ramazani
    School of Pharmacy, Zanjan University of Medical Sciences, Zanjan, Iran
    Iran Biomed J 12:49-53. 2008
    b>Congenital Adrenal Hyperplasia (CAH, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders...
  98. ncbi Experience with long-term glucocorticoid treatment in congenital adrenal hyperplasia: growth pattern compared with genetic height potential
    Zehra Aycan
    Department of Pediatric Endocrinology, Ankara Diskapi Children s Hospital, Turkey
    J Pediatr Endocrinol Metab 19:245-51. 2006
    Long-term replacement treatment with high doses of steroids in congenital adrenal hyperplasia (CAH) is known to have a negative influence on growth...
  99. ncbi Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency
    Thomas M K Völkl
    Division of Paediatric Endocrinology and Diabetology, Hospital for Children and Adolescents, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Acta Paediatr 98:885-91. 2009
    ..Since the prevalence of overweight and obesity is increased in children with congenital adrenal hyperplasia (CAH), our study aimed to evaluate serum levels of adiponectin in a cohort of CAH children and ..
  100. ncbi Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes
    Antonio Balsamo
    Department of Pediatrics, University of Bologna, Bologna, Italy
    Eur J Pediatr 165:380-3. 2006
    ..this study were to: (1) retrospectively investigate the birth length and weight of our patients with congenital adrenal hyperplasia (CAH); (2) compare these parameters with standards for birth length and weight recently assessed in an ..
  101. ncbi Congenital adrenal hyperplasia
    Phyllis W Speiser
    Department of Pediatrics, Schneider Children s Hospital North Shore Long Island Jewish Health System, New Hyde Park, NY 11042, USA
    N Engl J Med 349:776-88. 2003

Research Grants63

  1. Aromatase Inhibitor in Males with Adrenal Hyperplasia
    Kyriakie Sarafoglou; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Our objective is to treat males who have congenital adrenal hyperplasia (CAH) and decreased spermatogenesis with an aromatase inhibitor in order to investigate its effects on hormonal ..
  2. Feto-maternal DNA/RNA Trafficking: Biology and Application
    Diana W Bianchi; Fiscal Year: 2013
    ..examine the clinical utility of fetal gender detection in X-linked conditions, in fetuses at risk for congenital adrenal hyperplasia, and in fetuses with ambiguous genitalia...
  3. Prenatal androgen effects on sex-related neural processing of reward and threat
    Sheri A Berenbaum; Fiscal Year: 2013
    ..This hypothesis will be tested in a neuroimaging study in congenital adrenal hyperplasia (CAH), a genetic disorder causing high androgen levels during prenatal development...
  4. Structure and Function of P450 Enzymes in Steroid Hormone Biosynthesis
    Martin Egli; Fiscal Year: 2013
    ..Mutations in both P450 21A2 and 17A1 are the major causes of a genetic group of diseases known as congenital adrenal hyperplasia, and P450 17A1 is an important drug target for treatment of prostate cancer...
  5. Evaluation of a Second-Tier Congenital Adrenal Hyperplasia Screening Method Utili
    PATRICIA ANN HUNT; Fiscal Year: 2010
    ..provided by applicant): In 1989, the Texas Newborn Screening (NBS) Program implemented screening for Congenital Adrenal Hyperplasia (CAH), an endocrine disorder that can cause critical medical emergencies within the first week of the ..
  6. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    STEVEN DOBROWOLSKI PHD; Fiscal Year: 2011
    ..multiplex immunoassay techniques to test for the following conditions: congenital hypothyroidism, congenital adrenal hyperplasia. cystic fibrosis, Krabbe disease and other leukodystrophies...
  7. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    STEVEN DOBROWOLSKI PHD; Fiscal Year: 2010
    ..multiplex immunoassay techniques to test for the following conditions: congenital hypothyroidism, congenital adrenal hyperplasia. cystic fibrosis, Krabbe disease and other leukodystrophies...
  8. Mechanism of action of steroidogenic acute regulatory protein (StAR)
    Himangshu S Bose; Fiscal Year: 2013
    ..StAR mutations cause a potentially lethal disease called congenital adrenal hyperplasia, in which the synthesis of all steroid hormones is impaired, and the fetuses die shortly after birth...
  9. NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK COORD CTR
    MELISSA FORBURGER; Fiscal Year: 2012
    ..microsphere sets with conjugated antibodies for specific analyte detection to screen for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and the leukodystrophies Krabbe and Pompe disease.
  10. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    Kenneth Pass; Fiscal Year: 2010
    ..microsphere sets with conjugated antibodies for specific analyte detection to screen for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and the leukodystrophies Krabbe and Pompe disease.
  11. NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK COORD CTR
    MELISSA T FORBURGER; Fiscal Year: 2011
    ..microsphere sets with conjugated antibodies for specific analyte detection to screen for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and the leukodystrophies Krabbe and Pompe disease.
  12. NEWBORN SCREEING TRANSLATIONAL RESEARCH NETWORK COORD CTR
    MELISSA T FORBURGER; Fiscal Year: 2010
    ..microsphere sets with conjugated antibodies for specific analyte detection to screen for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and the leukodystrophies Krabbe and Pompe disease.
  13. GENETICS OF DELAYED PUBERTY
    LAWRENCE LAYMAN; Fiscal Year: 2001
    ..consisting of IHH and anosmia (KAL mutations) and hypogonadotropic hypogonadism associated with congenital adrenal hyperplasia (DAX-1 gene mutations), the etiology of IHH remains unknown...
  14. INVESTIGATION Of HUMAN COMPLEMENT
    CHESTER ALPER; Fiscal Year: 1999
    ..I diabetes mellitus, gluten-sensitive enteropathy, pemphigus vulgaris, and 21-hydroxylase deficiency congenital adrenal hyperplasia. In the proposed work, we seek to determine which of the specific restriction fragment length ..
  15. ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY
    Songya Pang; Fiscal Year: 2002
    ..abstract) The clinical spectrum of 3b-hydroxysteroid dehydrogenase (3b-HSD) deficiency (def) congenital adrenal hyperplasia (CAH) ranges from the severe form manifesting ambiguous genitalia, salt-wasting, and hypogonadism to ..
  16. ANDROGEN METABOLISM IN CHILDHOOD
    Maria New; Fiscal Year: 2006
    ..Two monogenic defects will be studied: 21-hydroxylase deficiency, which results in the disease Congenital Adrenal Hyperplasia (CAR), and 11beta-HSD2 deficiency, which is the cause of the disease Apparent Mineralocorticoid Excess ..
  17. CYTOCHROME P-450XVII GENE STRUCTURE AND REGULATION
    H Fevold; Fiscal Year: 1990
    ..Abnormalities in the activity and/or expression of the P-450xvii gene cause a type of congenital adrenal hyperplasia, which can result in hypertension, hyperkalemia, sexual infantilism and hypospadias...
  18. 21-HYDROXYLASE DEFICIENCY - MUTATIONS AND MECHANISMS
    Patricia Donohoue; Fiscal Year: 1993
    b>Congenital adrenal hyperplasia (CAH) due to 21-hydrorylase (21-0H) deficiency is one of the most common inherited metabolic disorders...
  19. Family Education for Confirmed Newborn Screen
    David Sandberg; Fiscal Year: 2009
    ..interactive DVD and web-based educational program, for parents of children born with a condition, congenital adrenal hyperplasia, identified through the NBS system...
  20. MOLECULAR GENETICS OF CONGENITAL ADRENAL HYPERPLASIA
    Perrin White; Fiscal Year: 2001
    This project aims to determine the molecular genetic bases of congenital adrenal hyperplasia, an inherited inability to synthesize cortisol...
  21. MOLECULAR GENETICS OF CONGENITAL ADRENAL HYPERPLASIA
    Perrin White; Fiscal Year: 1993
    ..These studies should provide reagents which will be useful in haplotype identification for purposes of prenatal diagnosis of these defects...
  22. ANDROGEN METABOLISM IN CHILDHOOD--SUPPLEMENT
    Maria New; Fiscal Year: 2000
    ..in biochemical, clinical and genotypic features of 21-hydroxylase deficiency (21-OHD) in patients with congenital adrenal hyperplasia (CAD) of Croatian, Bosnian and Herzegovinian, and Slovenian cultures to patients in the US...
  23. REGULATION OF THE STEROIDOGENIC ACUTE REGULATORY PROTEIN
    Barbara Clark; Fiscal Year: 2005
    ..that lead to the production of a non-functional protein is the genetic basis for the disorder lipoid congenital adrenal hyperplasia (LCAH)...
  24. REGULATION OF THE STEROIDOGENIC ACUTE REGULATORY PROTEIN
    Barbara Clark; Fiscal Year: 2001
    ..This point is evident by the studies on lipoid congenital adrenal hyperplasia (LCAH), an inherited and lethal disease in which both adrenal and gonadal steroidogenesis is markedly ..
  25. Hormonal Influences on Neural/Behavioral Development
    Melissa Hines; Fiscal Year: 2009
    ..neural-behavioral development will be evaluated by studying psychological outcomes in individuals with congenital adrenal hyperplasia (CAH: an autosomal recessive disorder causing increased adrenal androgen production beginning ..
  26. STUDY OF WOMEN WITH CONGENITAL ADRENAL HYPERPLASIA
    CLAUDE MIGEON; Fiscal Year: 2004
    ..as it relates to excess androgen exposure during pre- and postnatal development in women with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency...
  27. PRIMATE ENDOCRINE REGULATION IN THE PERINATAL PERIOD
    Robert Jaffe; Fiscal Year: 2003
    ..response to intrauterine and perinatal stress; 2) the pathologic alteration of growth that occurs in congenital adrenal hyperplasia, which we hypothesize is the result of the overexpresion of locally produced growth factors stimulated ..
  28. TRANSGENIC ANALYSIS OF LH HYPERSECRETION
    John Nilson; Fiscal Year: 1999
    ..applications for further understanding clinical syndromes such as polycystic ovary syndrome (PCOS) and congenital adrenal hyperplasia (CAH); and 3) elucidating specific transcriptional mechanisms required for preventing hypersecretion ..
  29. COMPREHENSIVE CYP21 GENOTYPING
    Edwin Naylor; Fiscal Year: 2002
    Virilizing congenital adrenal hyperplasia (CAH) describes a group of disorders of steroidogenesis involving the pathway from cholesterol to cortisol. Ninety-five percent of CAH results from alteration of the CYP21 gene...
  30. ONSET AND PROGRESSION OF PUBERTY
    Jean Wilson; Fiscal Year: 1980
    ..R.A. on growth and development. 4. Patients with growth hormone deficiency or excess. 5. Patients with Cushing's disease and congenital adrenal hyperplasia - to delineate further the hypothalamic-pituitary-adrenal interaction.
  31. DNA-based Arrays of Cross-reactive Molecular Sensors
    Milan Stojanovic; Fiscal Year: 2004
    ..will be initially demonstrated on Cushing's disease, adrenal adenoma, adrenal carcinoma, hirsutism and congenital adrenal hyperplasia. In the next phase, DNA-based cross-reactive sensors for oligosaccharides will be incorporated into ..
  32. Identification of Novel ACTH small molecule Antagonists
    Ilya Okun; Fiscal Year: 2004
    ..to antagonize ACTH action would greatly facilitate the care of several clinical conditions, including congenital adrenal hyperplasia and Cushings Disease, which affect the adrenal gland...
  33. PSYCHOBIOLOGY OF CONGENITAL ADRENAL HYPERPLASIA (CAH)
    HEINO MEYER BAHLBURG; Fiscal Year: 2002
    ..long-term outcome of adult women (age 18 years and up) with one of the major forms of the syndrome of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: prenatal-onset classical CAH (C-CAH, including both ..
  34. Biochemical Basis of Cortisone Reductase Deficiency
    Perrin White; Fiscal Year: 2007
    ..Subsets of the genotyping data will be analyzed as an association study, as an affected sib pair study, and by transmission disequilibrium testing. Additional polymorphisms in these genes will be sought in PCOS subjects. ..
  35. Functions of Very Large G-protein Coupled Receptor-1
    Perrin White; Fiscal Year: 2008
    ..We are specifically interested in the other proteins with very large ectodomains, protocadherin- 15 and cadherin-23. These studies should shed new light on mechanisms controlling development of the retina and inner ear. ..
  36. REGULATION OF HUMAN ALDOSTERONE SYNTHASE
    Perrin White; Fiscal Year: 2002
    ..These studies should provide insight into mechanisms underlying a genetic risk factor for cardiovascular disease. ..
  37. Fusion Proteins As Probes of P450 Structure and Function
    Richard Auchus; Fiscal Year: 2004
    ..In addition, this approach might be generally applicable to structural studies of membrane-bound proteins. ..
  38. MOLECULAR GENETICS OF LOW RENIN HYPERTENSION
    Perrin White; Fiscal Year: 2001
    ..The investigators will determine the role of 11-HSD K in the development of essential hypertension, using both linkage and association studies. ..
  39. Gas chromatograph-mass spectrometer with EI and CI
    Cedric Shackleton; Fiscal Year: 2003
    ..g., malondialdehyde) and markers of DNA damage (incorporation of uracil). Dr Kuypers has several projects on the red cell membrane, which require profiling of fatty acids using EI GC/MS. ..
  40. SMITH-LEMLI-OPITZ SYNDROME STEROIDOGENESIS
    Cedric Shackleton; Fiscal Year: 2002
    ..Finally, if ring B dehydrosteroids are produced, is the ratio of the individual dehydrometabolites to corresponding conventional metabolites related to the dehydrocholesterol to cholesterol ratio and clinical severity? ..
  41. Neurosteroids and Smith-Lemli-Optiz Syndrome
    Cedric Shackleton; Fiscal Year: 2005
    ..All studies will require high sensitivity steroid analysis by chemical ionization (CI) GC/MS and HPLC/MS. ..
  42. DEVELOPING CIRCADIAN RHYTHMICITY
    Scott Rivkees; Fiscal Year: 2002
    ..These studies may also lead to the development of new care practices in Neonatal Intensive Care Units and extend the field of developmental chronobiology to the bedside. ..
  43. Adenosinergic Mechanisms of Intrauterine Growth Retardation
    Scott A Rivkees; Fiscal Year: 2010
    ..The goals of this proposal are to identify the mechanisms by which adenosine acts to protect the embryo in utero and how altered embryonic adenosine action leads to long-term adverse effects in adulthood. ..
  44. Oral History of Human Genetics: The Intelligent Archive
    Edward McCabe; Fiscal Year: 2009
    ..3. suggest new directions for research. ..
  45. The Role of Adenosine in Hypoglycemic Brain Injury
    Scott Rivkees; Fiscal Year: 2003
    ..We anticipate that these studies will yield new insights into the mechanisms of hypoglycemic brain injury and may lead to the development of practical strategies for reducing hypoglycemic brain injury. ..
  46. Gender Development in Early Adolescence: Prenatal Hormones & Family Socialization
    Sheri A Berenbaum; Fiscal Year: 2010
    ..socialization in 120 girls exposed to varying levels of androgen during prenatal development owing to congenital adrenal hyperplasia (CAH);we will compare them to a previously-assessed group of 150 typical girls...
  47. A1-ADENOSINE RECEPTOR ACTION IN HIPPOCAMPUS
    Scott Rivkees; Fiscal Year: 2003
    ..We anticipate these studies will lead to new insights into the mechanisms of A1AR action. We also anticipate that these studies will identify A1ARs as an important regulator of axon growth. ..
  48. MOLECULAR MECHANISMS OF ADRENAL DEVELOPMENT
    Edward McCabe; Fiscal Year: 2004
    ..In addition, we will elucidate mechanisms and identify candidate genes for pathologic processes as varied as adrenal cortical aplasia, hypoplasia and tumorigenesis. ..
  49. A-1 Adenosine Receptor Action in Developing Heart
    Scott Rivkees; Fiscal Year: 2005
    ..We anticipate that these studies will identify Rho and ROCK as critical signaling molecules in heart development and reveal that cardiac GTPase activity transduces the effects of adenosine. ..
  50. Psychosexual Differentiation: Biology and Socialization
    Sheri Berenbaum; Fiscal Year: 2005
    ..Consultants participating in discussion of specific issues include Robert Blizzard, Norman Fost, David Page, John McArdle, Ora Pescovitz, and Susan Resnick. ..
  51. CB1 Receptor Action on the Developing Hippocampus
    Scott Rivkees; Fiscal Year: 2005
    ..We anticipate that these studies will result in new insights into the potential effects of cannabinoid action on the developing brain. ..
  52. ANDROGEN PRODUCTION IN ADRENARCHE AND PCOS
    WALTER MILLER; Fiscal Year: 2006
    ..abstract_text> ..
  53. HORMONAL INFLUENCES ON HUMAN SEXUALLY-DIMORPHIC BEHAVIOR
    Sheri Berenbaum; Fiscal Year: 2005
    ..a systematic study of the behavioral effects of early exposure to excess androgens in individuals with congenital adrenal hyperplasia (CAH)...
  54. Anti-Adenosine Therapy of Neonatal Brain Injury
    Scott Rivkees; Fiscal Year: 2007
    ..It is anticipated that these studies will lead to novel and practical strategies for directly preventing brain injury. [unreadable] [unreadable]..
  55. MOLECULAR GENETIC STUDIES OF GLYCEROL KINASE DEFICIENCY
    Edward McCabe; Fiscal Year: 2003
    ....
  56. Radioactive Iodide Therapy of Pediatric Graves' Disease
    Scott A Rivkees; Fiscal Year: 2010
    ....
  57. Vaccine therapy of congenital adrenal Hyperplasia
    Scott Rivkees; Fiscal Year: 2003
    ..We also anticipate being able to extend this novel approach to the treatment of other receptor-mediated endocrine disorders, such as hyperthyroidism. ..
  58. Prenatal development, spatial ability, and hippocampus
    Rebecca Herman; Fiscal Year: 2004
    ..abstract_text> ..
  59. FREE PLASMA SEX HORMONE AND ANDROGEN ACTION
    Robert Rosenfield; Fiscal Year: 2001
    ....
  60. Contribution of Estradiol to Female Neural Development
    Michael Baum; Fiscal Year: 2009
    ..Affirmation of a perinatal role for estradiol in brain sexual differentiation in female mice would raise the question of whether estradiol plays a similar role in female-typical psychosexual differentiation in women. ..