Maria I New

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. pmc Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    Maria I New
    Departments of Pediatrics and Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 110:2611-6. 2013
  2. doi request reprint An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
    Maria I New
    Adrenal Steroid Disorders Group, Mount Sinai School of Medicine, New York, NY 10029, USA
    Semin Reprod Med 30:396-9. 2012
  3. ncbi request reprint 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
  4. doi request reprint Ancient history of congenital adrenal hyperplasia
    Maria I New
    Pediatric Endocrinology, Genetics, and Genomics, Mount Sinai School of Medicine, 1 Gustav L Levy Place, New York, N Y 10029, USA
    Endocr Dev 20:202-11. 2011
  5. ncbi request reprint Extensive clinical experience: nonclassical 21-hydroxylase deficiency
    Maria I New
    Adrenal Steroid Disorders Program, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 91:4205-14. 2006
  6. ncbi request reprint Congenital adrenal hyperplasia and poverty
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pediatr Endocrinol Metab 19:1191. 2006
  7. ncbi request reprint Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mt Sinai J Med 74:40-1. 2007
  8. ncbi request reprint Monogenic low renin hypertension
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave Levy Place, Box 1198, New York, NY 10029, USA
    Trends Endocrinol Metab 16:92-7. 2005
  9. ncbi request reprint Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess
    Heino F L Meyer-Bahlburg
    New York State Psychiatric Institute and Department of Psychiatry, Columbia University, 1051 Riverside Drive, New York, NY 10032, USA
    Arch Sex Behav 37:85-99. 2008
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications53

  1. pmc Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    Maria I New
    Departments of Pediatrics and Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 110:2611-6. 2013
    ..By identifying the predominant phenotype for a given genotype, these findings should assist physicians in prenatal diagnosis and genetic counseling of parents who are at risk for having a child with CAH...
  2. doi request reprint An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
    Maria I New
    Adrenal Steroid Disorders Group, Mount Sinai School of Medicine, New York, NY 10029, USA
    Semin Reprod Med 30:396-9. 2012
    ..The method will eliminate invasive procedures and unnecessary prenatal treatment and bring noninvasive prenatal diagnosis to underdeveloped areas where amniocentesis and chorionic villus sampling are not available...
  3. ncbi request reprint 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
    ..However, with hormonal and molecular genetic screening, previously undiagnosed patients may be identified and can therefore receive glucocorticoid treatment, which has been shown to reverse symptoms within 3 months...
  4. doi request reprint Ancient history of congenital adrenal hyperplasia
    Maria I New
    Pediatric Endocrinology, Genetics, and Genomics, Mount Sinai School of Medicine, 1 Gustav L Levy Place, New York, N Y 10029, USA
    Endocr Dev 20:202-11. 2011
    ..Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH...
  5. ncbi request reprint Extensive clinical experience: nonclassical 21-hydroxylase deficiency
    Maria I New
    Adrenal Steroid Disorders Program, Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 91:4205-14. 2006
    ..Unlike classical CAH, NC21OHD is not associated with ambiguous genitalia of the newborn female...
  6. ncbi request reprint Congenital adrenal hyperplasia and poverty
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pediatr Endocrinol Metab 19:1191. 2006
  7. ncbi request reprint Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mt Sinai J Med 74:40-1. 2007
  8. ncbi request reprint Monogenic low renin hypertension
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave Levy Place, Box 1198, New York, NY 10029, USA
    Trends Endocrinol Metab 16:92-7. 2005
    ..The current knowledge of these genetic markers enables practitioners to make precise diagnoses, and to initiate specific therapy, in patients with these relatively uncommon but interesting and often treatable forms of hypertension...
  9. ncbi request reprint Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess
    Heino F L Meyer-Bahlburg
    New York State Psychiatric Institute and Department of Psychiatry, Columbia University, 1051 Riverside Drive, New York, NY 10032, USA
    Arch Sex Behav 37:85-99. 2008
    ..We conclude that the findings support a sexual-differentiation perspective involving prenatal androgens on the development of sexual orientation...
  10. ncbi request reprint 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...
  11. ncbi request reprint Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia
    Heino F L Meyer-Bahlburg
    New York State Psychiatric Institute and Department of Psychiatry, Columbia University, New York, New York 10032 2695, USA
    Arch Sex Behav 33:97-104. 2004
    ....
  12. ncbi request reprint In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess
    Karen Lin-Su
    Department of Pediatrics, New York Presbyterian Hospital Weill Medical College of Cornell University, New York, New York 10021, USA
    J Clin Endocrinol Metab 89:2024-7. 2004
    ..43 mg/d (normal, 5-25 mg/d). Sequence analysis of the HSD11B2 gene revealed a novel homozygous delta299 mutation in exon 5. In vitro expression in Chinese hamster ovary cells revealed that this mutation resulted in no activity...
  13. doi request reprint Long-term growth hormone therapy in an adolescent boy with 45,X/46,XidicY(p11)
    Frances M Guevarra
    Pediatric Endocrinology, Department of Pediatrics, The Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pediatr 155:752-5.e1-3. 2009
    ..5 cm. His clinical features included second-degree hypospadias, some stigmata of Turner syndrome, and spontaneous progression through puberty. We report long-term use of growth hormone in a male adolescent with isodicentric Yq...
  14. ncbi request reprint Gender development in women with congenital adrenal hyperplasia as a function of disorder severity
    Heino F L Meyer-Bahlburg
    NYS Psychiatric Institute Department of Psychiatry, Columbia University, 1051 Riverside Drive, NYSPI Unit 15, New York, New York 10032, USA
    Arch Sex Behav 35:667-84. 2006
    ..There continues a need for improved instruments for gender assessment...
  15. doi request reprint Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Saroj Nimkarn
    Department of Pediatrics, Mount Sinai School of Medicine, USA
    Mol Cell Endocrinol 300:192-6. 2009
    ..Current data from large human studies show that prenatal diagnosis and treatment are safe in the short term for both the fetus and the mother. Preliminary data from long-term studies support these results...
  16. pmc Final adult height in children with congenital adrenal hyperplasia treated with growth hormone
    Karen Lin-Su
    Department of Pediatric Endocrinology, Weill Medical College of Cornell University, New York, New York 10021, USA
    J Clin Endocrinol Metab 96:1710-7. 2011
    ..Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency typically reach a final adult height well below their mid-parental target height...
  17. pmc Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Heino F L Meyer-Bahlburg
    NYS Psychiatric Institute and Department of Psychiatry, Columbia University, 1051 Riverside Drive, NYSPI Unit 15, New York, New York 10032, USA
    Eur J Endocrinol 167:103-10. 2012
    ..To test whether dexamethasone (DEX) treatment in pregnancies at risk for congenital adrenal hyperplasia (CAH) impairs cognitive functioning in the offspring...
  18. doi request reprint Adrenal disease in pregnancy
    Oksana Lekarev
    Adrenal Steroid Disorders Group, Division of Pediatric Endocrinology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Best Pract Res Clin Endocrinol Metab 25:959-73. 2011
    ..Because dexamethasone crosses the placenta, it should not be used to treat pregnant women with CAH if the fetus is not at risk for the disease...
  19. ncbi request reprint Prenatal diagnosis and treatment of congenital adrenal hyperplasia
    Saroj Nimkarn
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Horm Res 67:53-60. 2007
    ..The evidence also suggests that it is safe over the long term, but all subjects exposed to dexamethasone treatment during embryonic and fetal life should have their physical, cognitive and emotional developments recorded...
  20. ncbi request reprint 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
    ..We conclude that the first 2 RCGQ-R scales show good psychometric qualities, but that the third scale needs to be further evaluated in a sample that includes women with gender identity disorder...
  21. ncbi request reprint Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    Saroj Nimkarn
    Adrenal Steroids Disorders Program, Department of Pediatrics at Mount Sinai School of Medicine, New York, NY 10029, USA
    Nat Clin Pract Endocrinol Metab 3:405-13. 2007
    ..Long-term follow-up of the safety of prenatal treatment is currently underway. This practice is a rare example of effective prenatal treatment to prevent a malformation caused by an inborn error of metabolism...
  22. ncbi request reprint Prolongation of growth by treatment of 11-hydroxylase deficiency with depot-leuprolide, growth hormone, and hydrocortisone
    Laura J Chalmers
    Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
    J Pediatr Endocrinol Metab 19:1251-5. 2006
    ....
  23. 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
    ..Genotype/phenotype non-correlation was seen when at least one IVS2 AS -13 (A/C to G) mutation in the CYP21A2 gene was present...
  24. doi request reprint Congenital adrenal hyperplasia in adolescents: diagnosis and management
    Karen Lin-Su
    Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, Mount Sinai School of Medicine, New York, New York, USA
    Ann N Y Acad Sci 1135:95-8. 2008
    ..Once the genotype establishes the diagnosis of NC 21-OHD, treatment should be initiated. Typical treatment is dexamethasone, 0.25 mg HS, which generally reverses the hyperandrogenic signs...
  25. doi request reprint Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia
    Saroj Nimkarn
    Adrenal Steroid Disorders Program, Mount Sinai School of Medicine, New York, New York 10029, USA
    Trends Endocrinol Metab 19:96-9. 2008
    ..The disorder is treated by administration of glucocorticoids...
  26. doi request reprint Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene
    Oksana Lekarev
    Department of Pediatrics, Mount Sinai School of Medicine, Box 1198, One Gustave L Levy Place, New York, NY 10029, USA
    Eur J Pediatr 171:787-93. 2012
    ....
  27. ncbi request reprint Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess
    Maria I New
    Department of Pediatrics, Weill Cornell Medical College, New York Presbyterian Hospital, 525 E 68th Street M622, New York, NY 10021, USA
    Ann N Y Acad Sci 970:145-54. 2002
    ..Diagnosis may be made at any age in most forms of low-renin hypertension...
  28. doi request reprint Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment
    Saroj Nimkarn
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
    Ann N Y Acad Sci 1192:5-11. 2010
    ..It reduces ambiguous genitalia in the female affected fetus and thus avoids unnecessary genitoplasty in the newborn female...
  29. doi request reprint Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia
    Saroj Nimkarn
    Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, Mount Sinai School of Medicine, 1 Gustave L Levy Place, Box 1198, New York, NY 10029, USA
    Pediatr Clin North Am 58:1281-300, xii. 2011
    ..Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied...
  30. ncbi request reprint Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency
    Berrin Ergun-Longmire
    Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave L Levy Place, Box 1198, New York, NY 10029, USA
    J Clin Endocrinol Metab 91:4179-82. 2006
    ..Congenital adrenal hyperplasia resulting from 17alpha-hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension...
  31. ncbi request reprint Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia
    Saroj Nimkarn
    Department of Pediatrics, Adrenal Steroid Disorders, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1198, New York, New York 10029, USA
    J Clin Endocrinol Metab 92:137-42. 2007
    ..Causative mutations in the CYP21A2 gene dictate the degrees of adrenal enzyme defect. Salt-wasting crises due to aldosterone deficiency are clinically apparent in the salt-wasting form but not in other forms of 21 OHD...
  32. pmc Genetic confirmation for a central role for TNFα in the direct action of thyroid stimulating hormone on the skeleton
    Li Sun
    The Mount Sinai Bone Program and Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 110:9891-6. 2013
    ..We speculate that TNFα elevations due to low TSH signaling in human hyperthyroidism contribute to the bone loss that has traditionally been attributed solely to high thyroid hormone levels...
  33. ncbi request reprint Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia
    Karen Lin-Su
    Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, Mount Sinai School of Medicine, New York, New York 10029, USA
    Ann N Y Acad Sci 1117:345-51. 2007
    ....
  34. ncbi request reprint Inborn errors of adrenal steroidogenesis
    Maria I New
    Pediatric Endocrinology, The New York Presbyterian Hospital Weill Medical College of Cornell University, 525 East 68th Street, M 630 New York, NY 10021, USA
    Mol Cell Endocrinol 211:75-83. 2003
    ..Two less frequent causes of CAH 17alpha-Hydroxylase/17,20-lyase and cholesterol desmolase result in external female genitalia in both sexes. Hormonal diagnosis is described for each disorder...
  35. doi request reprint 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
    ..Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied...
  36. ncbi request reprint Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature
    Berrin Ergun-Longmire
    Department of Pediatrics, The New York Presbyterian Hospital Weill Medical College of Cornell University, New York, NY, USA
    J Pediatr Endocrinol Metab 18:739-48. 2005
    ..In this article, we evaluate four patients with 46,XX male syndrome with various phenotypes. Two of these cases are among the first reported to be diagnosed prenatally...
  37. ncbi request reprint Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone
    Heino F L Meyer-Bahlburg
    New York State Psychiatric Institute and Department of Psychiatry, Columbia University, New York, New York 10032, USA
    J Clin Endocrinol Metab 89:610-4. 2004
    ..With the methods used, we were unable to document any adverse effects of early-prenatal DEX treatment in the doses recommended for the treatment of pregnancies at risk for CAH on motor and cognitive development...
  38. ncbi request reprint Prenatal diagnosis and treatment of congenital adrenal hyperplasia
    Saroj Nimkarn
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Pediatr Endocrinol Rev 4:99-105. 2006
    ..Data from current, large cohort studies show that prenatal diagnosis and treatment are safe and effective...
  39. ncbi request reprint Hypertension and adrenal disorders
    Wassim Chemaitilly
    The New York Presbyterian Hospital, Weill Medical College of Cornell University, Pediatric Endocrinology, Room M 630, Box 103, 525 East 68th Street, New York, NY 10021, USA
    Curr Hypertens Rep 5:498-504. 2003
    ..In this review, we discuss these etiologies and the most recent advances in our knowledge of their pathophysiology, diagnosis, and treatment...
  40. doi request reprint Low-renin hypertension of childhood
    Alan A Parsa
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1198, New York, NY 10029, USA
    Endocrinol Metab Clin North Am 40:369-77, viii. 2011
    ..This article discusses the genetic disorders that cause low-renin hypertension...
  41. ncbi request reprint Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia
    Karen Lin-Su
    Department of Pediatrics, Mount Sinai Medical Center, 1 Gustave L Levy Place, Box 1198, New York, New York 10029, USA
    J Clin Endocrinol Metab 90:3318-25. 2005
    ..5 +/- 0.9 (P < 0.0001) and the final height sd score of the untreated group of -1.4 +/- 1.1 (P = 0.01). Our results indicate that the combination of GH and LHRHa improves final adult height in patients with CAH...
  42. ncbi request reprint Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor
    J B Quintos
    Department of Pediatrics, Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, RI 02903, USA
    J Pediatr Endocrinol Metab 22:181-5. 2009
    ..The coding exons of the GnRH-R gene were amplified and the PCR products were sequenced bidirectionally. Two different mutations were identified: one in exon 1 (Gln106Arg) and the other in exon 3 (Leu266Arg)...
  43. pmc Blocking antibody to the β-subunit of FSH prevents bone loss by inhibiting bone resorption and stimulating bone synthesis
    Ling Ling Zhu
    Mount Sinai Bone Program, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 109:14574-9. 2012
    ..Overall, the data prompt the future development of an FSH-blocking agent as a means of uncoupling bone formation and bone resorption to a therapeutic advantage in humans...
  44. ncbi request reprint Concomitant secretion of glucocorticoid, androgens, and mineralocorticoid by an adrenocortical carcinoma: case report and review of literature
    Caroline K Messer
    Department of Internal Medicine, Mount Sinai School of Medicine, New York 10029, USA
    Endocr Pract 13:408-12. 2007
    ..To present a case of concomitant secretion of cortisol, androgens, and 11-deoxycorticosterone (DOC) by an adrenocortical carcinoma and review the literature in an attempt to identify similar cases...
  45. doi request reprint Inactivation of the acid labile subunit gene resulting in insulin-like growth factor deficiency
    Karen Lin-Su
    Department of Pediatrics, Division of Adrenal Steroid Disorders, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mt Sinai J Med 75:57-8. 2008
  46. ncbi request reprint Nonclassic 21-hydroxylase deficiency
    Maria I New
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Fertil Steril 86:S2. 2006
    ..Nonclassic 21-hydroxylase deficiency is a frequent autosomal recessive disorder which causes decreased fertility and is easily treated. It occurs with the highest frequency of any other autosomal recessive disorder in humans...
  47. ncbi request reprint Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency
    Glenn A Gmyrek
    Department of Urology, Pediatric Urology Center, Children s Hospital of New York, Weill Medical College of Cornell University, New York, New York, USA
    Pediatrics 109:E28. 2002
    ..We report the use of laparoscopic bilateral adrenalectomy as a definitive therapy for this condition and argue that it is superior to conventional medical therapy in selected patients...
  48. ncbi request reprint Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
    Evangelia Charmandari
    Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    J Clin Endocrinol Metab 87:3031-7. 2002
    ..Molecular genotype and plasma free metanephrine concentration predict phenotype with similar accuracy. Both methods are more accurate in the most severe forms of the disease...
  49. pmc Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency)
    Dianne Keen-Kim
    Department of Molecular Endocrinology, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 6130, USA
    J Mol Diagn 7:236-46. 2005
    ..Results from 102 clinical samples demonstrate that this assay is a rapid, reliable, and robust method for locus-specific identification of mutations and is suitable for routine clinical use and prenatal diagnosis...
  50. ncbi request reprint Nonclassic 21-hydroxylase deficiency in Croatia
    Miroslav Dumic
    Department of Pediatrics, University of Zagreb Medical School, Zagreb, Croatia
    J Pediatr Endocrinol Metab 17:157-64. 2004
    ..Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients...
  51. ncbi request reprint Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature
    Amrit Bhangoo
    Pediatric Endocrinology Division of Infants and Children s Hospital of Brooklyn at Maimonides, Brooklyn, NY, USA
    J Pediatr Endocrinol Metab 19:1267-82. 2006
    ..Mutations in the gene encoding 110-hydroxylase (CYPI]BJ) are the second most common cause of congenital adrenal hyperplasia (CAH), a disorder characterized by adrenal insufficiency and virilization of female external genitalia...
  52. doi request reprint Low renin hypertension (LRH): shades of John Laragh
    John Funder
    Trends Endocrinol Metab 19:83. 2008
  53. ncbi request reprint Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity
    Albertina So
    Endocrine Hypertension Research Centre, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    J Hypertens 23:1477-84. 2005
    ..Mutations in the exons or intron-exon boundaries of PRKAR1B (7p22, closely related to PRKAR1A, which is mutated in Carney complex) have been excluded in this family...