steroid 21 hydroxylase

Summary

Summary: An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

Top Publications

  1. 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
  2. ncbi Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication
    L Shen
    Children s Hospital Research Foundation, Columbus, Ohio 43205
    J Biol Chem 269:8466-76. 1994
  3. 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
  4. 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
  5. 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
  6. 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
  7. ncbi An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis
    K L Rupert
    Children s Hospital Research Foundation, Columbus, Ohio, USA
    Exp Clin Immunogenet 16:81-97. 1999
  8. ncbi Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associat
    Z Yang
    Children s Hospital Research Foundation, Columbus, Ohio 43205, USA
    J Biol Chem 274:12147-56. 1999
  9. ncbi Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany
    N Krone
    University Children s Hospital, Ludwig Maximilians University, Munich, Germany
    J Clin Endocrinol Metab 85:1059-65. 2000
  10. ncbi Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation
    A Wedell
    Rolf Luft Center for Diabetes Research, Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 78:1145-52. 1994

Research Grants

Detail Information

Publications249 found, 100 shown here

  1. 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
    ..Glucocorticoid and mineralocorticoid replacement are the mainstays of treatment, but more rational dosing and additional therapies are being developed...
  2. ncbi Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication
    L Shen
    Children s Hospital Research Foundation, Columbus, Ohio 43205
    J Biol Chem 269:8466-76. 1994
    ..Duplication of the RCCX modules probably occurred before the speciation of great apes and humans as they contain the same breakpoint region of RP and Gene X gene duplication...
  3. 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
    ....
  4. 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...
  5. 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
    ....
  6. 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
    b>Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH)...
  7. ncbi An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis
    K L Rupert
    Children s Hospital Research Foundation, Columbus, Ohio, USA
    Exp Clin Immunogenet 16:81-97. 1999
    ..Elucidation of the breakpoint region provides further evidence for the instability of the MHC class III gene region as a result of the RCCX modular variation...
  8. ncbi Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associat
    Z Yang
    Children s Hospital Research Foundation, Columbus, Ohio 43205, USA
    J Biol Chem 274:12147-56. 1999
    ..Elucidation of the DNA sequence for the recombination breakpoint region and sequence analyses yielded definitive proof for an unequal crossover between TNXA from a bimodular chromosome and TNXB from a monomodular chromosome...
  9. ncbi Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany
    N Krone
    University Children s Hospital, Ludwig Maximilians University, Munich, Germany
    J Clin Endocrinol Metab 85:1059-65. 2000
    ..As yet undefined factors modifying 21-hydroxylase gene expression and steroid hormone action are likely to account for these differences in phenotypic expression...
  10. ncbi Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation
    A Wedell
    Rolf Luft Center for Diabetes Research, Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 78:1145-52. 1994
    ....
  11. ncbi Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation
    Maher Kharrat
    Laboratoire de Génétique Humaine, Faculte de Medecine de Tunis, 1006, Tunisie
    J Clin Endocrinol Metab 89:368-74. 2004
    ..Our results have shown a good genotype/phenotype correlation in the case of most mutations. This is the first report of screening for mutations of 21-hydroxylase gene in the Tunisian population and even in the Arab population...
  12. ncbi A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency
    Silvia Parajes
    Fundación Pública Gallega de Medicina Genómica Unidad de Medicina Molecular, Santiago de Compostela, Spain
    Clin Chem 53:1577-84. 2007
    ..Because lack of suitable CYP21A2 dosage assessment methods hampers correct 21OHD diagnosis, we developed a new assay based on the relative quantification of the CYP21A2 gene using the DSP gene as a reference...
  13. pmc Structure of human steroid 21-hydroxylase genes
    P C White
    Proc Natl Acad Sci U S A 83:5111-5. 1986
    ..A second frameshift and a nonsense mutation occur downstream. In contrast, the sequence of the exons of the B gene is identical to the cDNA sequence. The 21-OHase A gene is, therefore, a pseudogene...
  14. ncbi Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein
    Marco Janner
    Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Bern, Switzerland
    Eur J Endocrinol 155:143-51. 2006
    ..This 962_963insA mutation created a frameshift leading to a stop codon at amino acid 161 of the P450c21 protein...
  15. ncbi Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency
    Rogério S Araújo
    Unidade de Endocrinologia do Desenvolvimento e Laboratorio de Hormonios e Genetica Molecular, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, SP 05403 900, Brazil
    J Clin Endocrinol Metab 92:4028-34. 2007
    ..Additionally, mutations in the steroidogenic factor-1 binding sites of the CYP21 distal regulatory region, located at 4676 bases upstream from the cap site of the CYP21A2 gene, decrease its transcription to 35%...
  16. ncbi Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency
    Hsien Hsiung Lee
    King Car Food Industrial Co, Ltd, Yuan Shan Research Institute, No 326 Yuan Shan Rd, Sec 2, Yuan Shan, Ilan 264, Taiwan, Republic of China
    Clin Chem 49:319-22. 2003
  17. ncbi PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module
    Hsien Hsiung Lee
    King Car Food Industrial Co Ltd, Yuan Shan Research Institute, No 326 Yuan Shan Road, Section 2, Yuan Shan, Ilan 264, Taiwan, Republic of China
    Genomics 83:944-50. 2004
    ..This rapid, nonradioactive detection method will be beneficial for diagnostic purposes that are limited to the population originally studied...
  18. ncbi A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency
    A E Billerbeck
    Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo, Hospital das Clinicas, Brazil
    J Clin Endocrinol Metab 84:2870-2. 1999
    ..Search for the G424S mutation in other populations will reveal whether it is restricted to the Brazilian patients or if it has a wider ethnic distribution...
  19. ncbi Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene
    S M Baumgartner-Parzer
    Department of Internal Medicine III, Division of Endocrinology and Metabolism, Waehringer Guertel 18 20, A 1090 Vienna, Austria
    J Clin Endocrinol Metab 92:1164-7. 2007
    ..Whereas so far, only heterozygous deletions of the CYP21A1P pseudogene were seen as premutations for de novo aberrations, the present report addresses such a predisposing role for parental duplicated CYP21A2 genes...
  20. ncbi Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family
    Paola Concolino
    Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry Catholic University, Rome, Italy
    Clin Chim Acta 364:298-302. 2006
    ..The analysis of linkage between specific mutations and this SNPs, especially if focused on genetic familial studies, may improve the quality of genetic analysis of 21-hydroxylase deficiency...
  21. ncbi 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...
  22. ncbi Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P
    Hsien Hsiung Lee
    Department of Medical Research, Mackay Memorial Hospital, No 45 Min Sheng Road, Tanshui, Taipei 251, Taiwan
    Mol Genet Metab 88:372-7. 2006
    ..Therefore, the CYP21A2 haplotype not only presents a 3.7-kb TaqI fragment but also may possibly exist in multiple forms including both 6.2- and 3.2-kb fragments...
  23. ncbi Congenital adrenal hyperplasia: diagnostic advances
    T Torresani
    Department of Endocrinology and Diabetology, University Children s Hospitals, Zurich, Switzerland
    J Inherit Metab Dis 30:563-75. 2007
    ..This discussion will be limited to the most common form of congenital adrenal hyperplasia, with focus on the diagnostic advances in this disease...
  24. pmc Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
    P F J Koppens
    J Med Genet 40:e53. 2003
  25. ncbi Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population
    S M Baumgartner-Parzer
    Department of Internal Medicine III, Medical University of Vienna, A 1090 Vienna, Austria
    J Clin Endocrinol Metab 90:775-8. 2005
    ..In conclusion, the observed CAH carrier frequency of 9.5% suggests a higher prevalence of CAH heterozygosity in a middle European population than hitherto estimated independently of the individuals' Yugoslav or non-Yugoslav origin...
  26. ncbi Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction
    Felix G Riepe
    Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, Kiel, Germany
    J Clin Endocrinol Metab 93:2891-5. 2008
    ..Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene...
  27. pmc Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency
    E Mornet
    Institut National de la Santé et de la Recherche Médicale U73, Chateau de Longchamps, Paris, France
    Am J Hum Genet 48:79-88. 1991
    ....
  28. ncbi Nonclassic adrenal hyperplasia
    Phyllis W Speiser
    Schneider Children s Hospital, 269 01 76th Ave, New Hyde Park, NY 11040, USA
    Rev Endocr Metab Disord 10:77-82. 2009
    ..This article will review relevant clinical, hormonal and genetic aspects of nonclassic adrenal hyperplasia...
  29. pmc Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    P W Speiser
    Department of Pediatrics, Cornell University Medical College, New York 10021
    J Clin Invest 90:584-95. 1992
    ..These data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21. Accurate prenatal diagnosis should be possible in most cases using the described strategy...
  30. ncbi Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype
    X Chu
    Institute for Legal Medicine, Johannes Gutenberg University, Mainz, FRG
    Exp Clin Immunogenet 9:80-5. 1992
    ..The findings were confirmed by PCR amplification of a 1.8-kb fragment of the CYP21 gene. This PCR system is specific for CYP21A/B recombinant genes and may be used for screening among CAH patients carrying this type of deletion...
  31. ncbi Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia
    M Barbaro
    Department of Pediatrics, University of Bologna and S Orsola Malpighi Hospital, 40139 Bologna, Italy
    J Clin Endocrinol Metab 89:2402-7. 2004
    ..This impairment of activity was confirmed in vivo by detection of heterozygote carriers by the ACTH test...
  32. ncbi Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect
    S Kleinle
    Department of Internal Medicine III, Division of Clinical Endocrinology and Metabolism, Medical University of Vienna, A 1090 Vienna, Austria
    J Clin Endocrinol Metab 94:3954-8. 2009
    ....
  33. ncbi p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency
    R Menassa
    Laboratoire d Endocrinologie Moléculaire et Maladies Rares, Centre de Biologie et de Pathologie Est, Bron Cedex, France
    J Clin Endocrinol Metab 93:1901-8. 2008
    ..To determine the severity of rare mutations is essential for genetic counseling and better understanding of the structure-function of the cytochrome P450c21...
  34. ncbi Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene
    A Wedell
    Rolf Luft Center for Diabetes Research, Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 91:236-40. 1993
    ..Thus, also rare mutations can spread via the pseudogene and can therefore be expected to arise independently in unrelated individuals...
  35. pmc Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene
    Y Higashi
    Proc Natl Acad Sci U S A 83:2841-5. 1986
    ..Tandem arrangement of the highly homologous pseudo- and genuine genes in close proximity could account for the high incidence of P-450(C21) gene deficiency by homologous gene recombination...
  36. ncbi Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    C Deneux
    Service d endocrinologie et médecine de la reproduction, Hopital Necker, 75015 Paris, France
    J Clin Endocrinol Metab 86:207-13. 2001
    ..Therefore, the phenotype cannot be accurately predicted from the genotype. Variability in phenotypic expression may be conditioned by mechanisms other than genetic heterogeneity at the CYP21 locus...
  37. ncbi Structure of a substrate complex of mammalian cytochrome P450 2C5 at 2.3 A resolution: evidence for multiple substrate binding modes
    Michael R Wester
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, MEM 255, La Jolla, California 92037, USA
    Biochemistry 42:6370-9. 2003
    ....
  38. ncbi Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults
    Anne Bachelot
    Department of Endocrinology and Reproductive Medicine, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Horm Res 69:203-11. 2008
    ....
  39. ncbi Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency
    Hsien Hsiung Lee
    King Car Food Industrial Co, Yuan Shan Research Institute, No 326 Yuan Shan Rd, Sec 2, Yuan Shan, Ilan 264, Taiwan, Republic of China
    Mol Genet Metab 79:214-20. 2003
    ..Possibly, the additional 111-base duplicated coding sequence may be generated by multiple intergenic recombinations, while there seems to be no relationship with deletion of the CYP21P-C4B regions...
  40. ncbi A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online
    N Krone
    University Children s Hospital, Ludwig Maximilians University Munich, Germany
    Hum Mutat 14:90-1. 1999
    ..This novel mutation has not been reported to occur in the CYP21P alleles and it was not found in the CYP21P alleles in this CAH family...
  41. ncbi Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
    H H Lee
    Department of Medical Research, Division of Molecular Medicine, China Medical College Hospital, No 2, Yue Der Road, Taichung 404, Taiwan, Republic of China
    Clin Chem 46:606-11. 2000
    ..The presence of the chimeric CYP21P/CYP21 molecule can not be detected by conventional PCR methods and therefore may be lost in PCR amplification. This leads to a false result and diagnostic discordance...
  42. ncbi Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    N Krone
    Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany
    Exp Clin Endocrinol Diabetes 114:111-7. 2006
    ..Knowledge of the residual 21-hydroxylase function improves both genetic counselling and individual clinical management in CAH patients...
  43. ncbi Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
    M Barbaro
    Department of Pediatrics, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy
    J Mol Med (Berl) 84:521-8. 2006
    ..All four mutations are, thus, associated with severe enzyme deficiency and are predicted to cause classic CAH if found in trans with other mutations causing severe enzyme deficiency...
  44. ncbi CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions
    Ana Friães
    Centro de Genética Humana, Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal
    Mol Genet Metab 88:58-65. 2006
    ..9%. With this study the molecular basis of CAH was characterized, for the first time, in Portuguese patients, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling...
  45. ncbi Diversity of the CYP21P-like gene in CYP21 deficiency
    Hsien Hsiung Lee
    King Car Food Industrial Co, Yuan Shan Research Institute, Taiwan, Republic of China
    DNA Cell Biol 24:1-9. 2005
    ..Most of these gene arrangements probably exist in the C4A-XCYP21-TNXB and C4A-CYP21P/CYP21-TNXB gene loci. The existence of the C4A-CYP21P-TNXA/TNXB locus might not be common in CAH patients with 21-hydroxylase deficiency...
  46. pmc Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess
    M I New
    Pediatric Endocrinology, New York Presbyterian Hospital, Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 96:12790-7. 1999
    ..In 1998, we reported a mild form of this disease, which may represent an important cause of low-renin hypertension...
  47. ncbi Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms
    G Rumsby
    Department of Chemical Pathology, University College London Medical School, UK
    Clin Endocrinol (Oxf) 48:707-11. 1998
    ....
  48. ncbi Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
    H H Lee
    Department of Obstetrics and Gynecology, Veterans General Hospital Taipei, Shih Pai, Taiwan, Republic of China
    Hum Genet 103:304-10. 1998
    ..Since these mutations are not found in the neighboring CYP21P pseudogene, gene conversion should not be the cause of these novel mutations...
  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 Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients
    F C Soardi
    Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas CBMEG UNICAMP, Campinas, Sao Paulo, Brazil
    J Clin Endocrinol Metab 93:2416-20. 2008
    ..Most patients with 21-hydroxylase deficiency carry CYP21A1P-derived mutations, but an increasing number of novel and rare mutations have been reported in disease-causing alleles...
  51. ncbi CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands
    P F Koppens
    Department of Pediatrics, Erasmus University Medical Center Rotterdam and Sophia Children s Hospital, Rotterdam, The Netherlands
    Eur J Hum Genet 8:827-36. 2000
    ..Apparent 'large-scale' CYP21-CYP21P gene conversions lead to hybrid genes that are very similar to those found in CYP21 deletions, so these haplotypes have probably resulted from a meiotic double unequal crossover...
  52. ncbi Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis
    Yulia Grischuk
    Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia
    J Clin Endocrinol Metab 91:4976-80. 2006
    ..Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene...
  53. ncbi The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene
    C Y Yu
    Department of Biochemistry, Oxford University, U K
    J Immunol 146:1057-66. 1991
    ..A PvuII restriction length polymorphism has been detected within the region of DNA coding for C4a. The intergenic region between C4 and the neighboring 21-hydroxylase gene, CYP21, is approximately 3028 bp in size...
  54. ncbi Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
    Hsien Hsiung Lee
    King Car Food Industrial Co, Ltd, Yuan Shan Research Institute, Taiwan, Republic of China
    J Hum Genet 47:517-22. 2002
    ..It is plausible that both consensus sequences are responsible for the gene conversion of these two chimeric genes...
  55. 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...
  56. ncbi Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
    Tiina Robins
    Department of Molecular Medicine and Surgery, Center for Molecular Medicine CMM L8 02, Karolinska Institutet Karolinska University Hospital, 17176, Stockholm, Sweden
    J Mol Med (Berl) 85:247-55. 2007
    ..This has relevance for diagnosis, prognosis, and genetic counseling for affected families...
  57. ncbi The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region
    P A Donohoue
    Department of Pediatrics, University of Iowa College of Medicine, Iowa City, USA
    Tissue Antigens 46:163-72. 1995
    ..A model is proposed which accounts for the CAH-linked mutant haplotype arising from a nonmutant homologue via three crossings-over...
  58. pmc Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency
    G Guerra-Junior
    Department of Pediatrics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP 13083 970, Brazil
    Clin Exp Immunol 155:182-8. 2009
    ..Considering this redundant gene cluster, C4 seems to be a well-protected gene segment along the evolutionary process...
  59. ncbi Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia
    Tiina Robins
    Department of Molecular Medicine and Surgery, Center for Molecular Medicine CMM L8 02, Karolinska Institutet Karolinska University Hospital, S 17176 Stockholm, Sweden
    Mol Endocrinol 20:2946-64. 2006
    ..Structural features deduced from the models are in good correlation with clinical severity of CYP21 mutants, which shows the applicability of a modeling approach in assessment of new CYP21 mutations...
  60. ncbi Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Nils Krone
    Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitatskinderklinik, Schwanenweg 20, D 24105 Kiel, Germany
    J Clin Endocrinol Metab 90:445-54. 2005
    ..Studying the enzyme function in vitro helps to understand the phenotypical expression and disease severity of 21-hydroxylase deficiency and also provides new insights into cytochrome P450 structure-function relationships...
  61. ncbi CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations
    Nike M M L Stikkelbroeck
    Department of Pediatric Endocrinology, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
    J Clin Endocrinol Metab 88:3852-9. 2003
    ....
  62. pmc Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
    P C White
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021
    Proc Natl Acad Sci U S A 85:4436-40. 1988
    ..Thus, gene conversions are rarely confused with deletions as a cause of 21-hydroxylase deficiency...
  63. ncbi CYP21 mutations and congenital adrenal hyperplasia
    H H Lee
    Kingcar Food Industrial Co, Ltd, Yuan Shan Research Institute, Taiwan, Republic of China
    Clin Genet 59:293-301. 2001
    ....
  64. ncbi The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency
    Hsien Hsiung Lee
    King Car Food Industrial Co, Yuan Shan Research Institute, 326 Yuan Shan Road, Sec 2, Yuanshan, 264, Ilan, Taiwan, Republic of China
    J Hum Genet 49:65-72. 2004
    ....
  65. 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...
  66. 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
    ..The few differences observed may reflect individual sample variations. This new Brazilian cohort study suggests the presence of new mutations in Brazilian patients with different forms of CAH-21OH...
  67. ncbi Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency
    Y P Yang
    Genetic Testing Center, Texas Department of Health, Denton, TX, USA
    Mol Diagn 6:193-9. 2001
    ..It permits simultaneous detection of a panel of point mutations with only one hybridization per sample and could be automated to study many samples...
  68. ncbi Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity
    Wolfgang Hoepffner
    Children s Hospital of the University of Leipzig, Leipzig, Germany
    Fertil Steril 81:1314-21. 2004
    ..To show that, with appropriate therapy, women with classic congenital adrenal hyperplasia (CAH) can become pregnant...
  69. ncbi Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia
    Sarah Muirhead
    Department of Pediatrics, Children s Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada
    J Pediatr 141:247-52. 2002
    ....
  70. ncbi Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease
    V Dolzan
    Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
    Eur J Endocrinol 149:137-44. 2003
    ..To analyse the mutational spectrum, the associated haplotypes and the genotype-phenotype correlation, and to design a reliable and rational approach for CYP21 mutation detection in Slovenian congenital adrenal hyperplasia (CAH) patients...
  71. ncbi [Hyperplasia of adrenal rests in the testicle: a rare cause of male infertility]
    P San Miguel Fraile
    Servicio de Anatomia Patologica, Centro Medico POVISA, Vigo, Pontevedra
    Actas Urol Esp 27:234-9. 2003
    ..The differential diagnosis with Leydig cell tumor is discussed and it must be established through the clinical, biochemical, radiological and pathological features...
  72. ncbi Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy
    I A Hughes
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Hills Road, Cambridge CB2 2QQ, UK
    Semin Reprod Med 20:229-42. 2002
    ....
  73. ncbi Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants
    A Nordenstrom
    Department of Pediatrics, Karolinska Institutet, Huddinge University Hospital, Sweden
    Pediatrics 108:E68. 2001
    ..The aim of the study was to optimize the procedure for neonatal screening for CAH in preterm infants...
  74. 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
    ..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...
  75. ncbi Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution
    K Kotaska
    Department of Clinical Biochemistry and Pathobiochemistry, 2nd Medical Faculty, Charles University, Faculty Hospital Motol, Prague, Czech Republic
    Cent Eur J Public Health 11:124-8. 2003
    ..Significant differencies in selected regions were determined by ANOVA statistical analysis (One-sample t-test, confidence interval) at value of p<0.05...
  76. ncbi Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia
    Catherine M Hall
    Royal Manchester Children s Hospital, Manchester M27 4HA, United Kingdom
    J Clin Endocrinol Metab 89:419-24. 2004
    ..Both physical and behavioral masculinization were related to each other and to genotype, indicating that behavioral masculinization is a consequence of prenatal androgen exposure...
  77. ncbi Adrenal progestogen and androgen production in 21-hydroxylase-deficient nonclassic adrenal hyperplasia is partially independent of adrenocorticotropic hormone stimulation
    Luis A Sanchez
    Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Birmingham, Alabama, USA
    Fertil Steril 77:750-3. 2002
    ..To test the hypothesis that adrenal steroidogenesis in nonclassic adrenal hyperplasia (NCAH) patients is, at least in part, independent of adrenocorticotropic hormone (ACTH) control...
  78. ncbi Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients
    Liliana B Dain
    Centro Nacional de Genetica Medica, División de Endocrinología Hospital Durand, Servicio de Pediatría Hospital Italiano
    Clin Endocrinol (Oxf) 56:239-45. 2002
    ..To characterize the molecular basis of the 21-hydroxylase deficiency in a group of Argentine patients presenting the classical and nonclassical forms of the disease...
  79. ncbi Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
    Tania A S S Bachega
    Unidade de Endocrinologia do Desenvolvimento e Laboratorio de Hormonios e Genetica Molecular, LIM 42, Disciplina de Endocrinologia, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo 05403 900, Brazil
    J Clin Endocrinol Metab 87:786-90. 2002
    ..We conclude that the variable ACTH-stimulated 17-OHP levels in carriers are not related to CYP21 gene mutations with different impairment of enzyme activity...
  80. ncbi Novel mutations in the human CYP21 gene
    A Levo
    Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, FIN 00310 Helsinki, Finland
    Prenat Diagn 21:885-9. 2001
    ..The rates obtained, approximately 5% and approximately 2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder...
  81. ncbi [From gene to disease: adrenogenital syndrome and the CYP21A2 gene]
    H L Claahsen-van der Grinten
    Universitair Medisch Centrum St Radboud, Postbus 90ioi, 6500o HB Nijmegen
    Ned Tijdschr Geneeskd 151:1174-7. 2007
    ..The severity of the disease depends on the degree of CYP21 deficiency. The diagnosis can be made by measuring levels of 17-hydroxyprogesterone and androstenedione in serum...
  82. ncbi Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia
    Selim Kurtoglu
    Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey
    J Pediatr Endocrinol Metab 16:1311-4. 2003
    ..At 12 years of age an adenoma was found in the cortex of the hyperplastic right adrenal gland. The importance of early diagnosis and compliance with medication in the simple virilizing form of 21-hydroxylase deficiency is stressed...
  83. ncbi Genetics of the adrenal gland
    Constantine A Stratakis
    Section on Endocrinology and Genetics, Developmental Endocrinology Branch DEB, National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, MD 20892 1862, USA
    Rev Endocr Metab Disord 5:53-68. 2004
  84. ncbi Congenital adrenal hyperplasia: phenotype and genotype
    Ieuan Hughes
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, UK
    J Pediatr Endocrinol Metab 15:1329-40. 2002
    ....
  85. ncbi The prevalence of late onset congenital adrenal hyperplasia in hirsute women from Central Anatolia
    Nuri Kamel
    Department of Endocrinology and Metabolic Diseases, Ankara University, School of Medicine, Ankara, Turkey
    Endocr J 50:815-23. 2003
    ..Mild 3-beta HSD deficiency may also be an underlying cause for hirsutism and it may be seen without any clinical presentation. Adrenal hyperactivity is likely to be the main reason of hyperandrogenemia in women with hirsutism...
  86. ncbi Treatment of adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a clinical practice audit
    Howard Y Li
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    Endocr Pract 9:347-52. 2003
    ....
  87. ncbi Monitoring of menstrual cycles, ovulation, and adrenal suppression by saliva sampling in female patients with 21-hydroxylase deficiency
    Nike M M L Stikkelbroeck
    Department of Pediatric Endocrinology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Fertil Steril 80:1030-6. 2003
    ..To investigate the correlation between menstrual cycles, ovulation, and adrenal suppression in congenital adrenal hyperplasia...
  88. ncbi Detection and assignment of CYP21 mutations using peptide mass signature genotyping
    Xuemei Zeng
    SpectraGenetics LLC, 4415 Fifth Avenue, Suite 160, Pittsburgh, PA 15213, USA
    Mol Genet Metab 82:38-47. 2004
    ....
  89. ncbi 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...
  90. ncbi The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás
    Elizabeth Lemos Silveira
    Graduate Program in Endocrinology, Universidade Federal do Rio Grande do Sul UFRGS, Brazil
    J Pediatr Endocrinol Metab 21:455-60. 2008
    ..Based on the number of confirmed CYP21 D CAH cases among the 82,603 screened, the estimated annual incidence of the disease was 1:10,325, lower than the previously reported rate in Brazil...
  91. ncbi Non-classical congenital adrenal hyperplasia
    Catherine Dacou-Voutetakis
    Pediatric Endocrinology, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children s Hospital, Athens, Greece
    Pediatr Endocrinol Rev 3:195-7. 2006
    ..CYP21A2 genotyping of the partner of a prospective mother with NC-CAH is controversial. Most likely it should be performed if the mother carries a classical mutation...
  92. ncbi Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency
    M de-Araujo
    Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas, Brasil
    Braz J Med Biol Res 29:1-13. 1996
    ....
  93. ncbi [Adrenogenital syndrome]
    Kenji Fujieda
    Department of Pediatrics, Asahikawa Medical College
    Nihon Rinsho . 2006
  94. ncbi Mutations in steroid 21-hydroxylase (CYP21)
    P C White
    Division of Pediatric Endocrinology, Cornell University Medical College, New York, New York 10021
    Hum Mutat 3:373-8. 1994
    ..The degree of enzymatic compromise caused by each mutation is correlated with the clinical severity of the deficiency observed in patients carrying that mutation...
  95. ncbi Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency
    S Peter
    Department of Medicine, Princess Margaret Hospital, The University of the West Indies, PO Box CB 12914, Nassau, Bahamas, West Indies
    West Indian Med J 55:110-2. 2006
    ..To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder..
  96. ncbi Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
    R C Wilson
    Department of Pediatrics, New York Hospital Cornell Medical Center, New York 10021, USA
    J Clin Endocrinol Metab 80:2322-9. 1995
    ..This study, has demonstrated that the 10 most common mutations observed in the 21-hydroxylase gene result in phenotypes that are not always concordant with the genotype...
  97. 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
    ..In fully genotyped NC patients, the lowest value of ACTH-stimulated 17OHP was 14 ng/ml. Lower cut-off values might overestimate the diagnosis of the NC form...
  98. ncbi Adrenal 21-hydroxylase cytochrome P-450 genes within the MHC class III region
    P C White
    Immunol Rev 87:123-50. 1985
    ..Thus the 21-OH B gene is normally active in man, but the 21-OH A gene is not...
  99. ncbi The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience
    L Barzon
    Department of Histology, Microbiology and Medical Biotechnologies, University of Padua, Padua, Italy
    J Endocrinol Invest 30:615-23. 2007
    ..Mechanisms leading to reduced 21-hydroxylase expression and activity are still unknown...
  100. pmc P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia
    K J Matteson
    Proc Natl Acad Sci U S A 84:5858-62. 1987
    ....
  101. ncbi Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:4643-9. 2007
    ..Patients with classical congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacological doses of glucocorticoids are an established risk factor for osteoporosis...

Research Grants35

  1. Role of mineralocorticoid receptor in primate ovarian function
    CHARLES CHAFFIN; Fiscal Year: 2009
    ..Overall, these exploratory studies should reveal a novel signaling steroid pathway in the primate ovary that could have clinical significance for contraceptive development, infertility, and potentially ovarian cancer. ..
  2. Regulation of the late-pathway of aldosterone biosynthesis
    CELSO ENRIQUE GOMEZ-SANCHEZ; Fiscal Year: 2012
    ..The late pathway involves the action of the enzyme aldosterone synthase upon DOC within the mitochondria. We have shown that the transfer of DOC into the mitochondria is regulated and propose to isolate the factor involved. ..
  3. INVESTIGATION Of HUMAN COMPLEMENT
    CHESTER ALPER; Fiscal Year: 1999
    ..Finally, we plan to try to explain the evolution and genetic mechanisms of origin of haplotypes with the relatively rare variant of the second component of complement, C2 B. ..
  4. ANDROGEN METABOLISM IN CHILDHOOD
    Maria New; Fiscal Year: 2006
    ..6) The harmonious interaction of molecular geneticists, biochemists, psychoendocrinologists, and clinicians with great experience in dealing with patients. ..
  5. 21-HYDROXYLASE DEFICIENCY - MUTATIONS AND MECHANISMS
    Patricia Donohoue; Fiscal Year: 1993
    ..4.) Determine the DNA sequence of the C4B/CYP21B intragenic region to assess for the presence of an element capable of controlling the expression of both genes. ..
  6. EXTRAADRENAL MINERALOCORTICOSTEROID FORMATION-METABOLISM
    M Casey; Fiscal Year: 1992
    ..In particular, we ask whether there is a role for extraadrenal DOC in the pathogenesis of the premenstrual syndrome...
  7. CHRONIC ANOVULATORY HYPERANDROGENISM: SORTING GENOTYPES
    Selma Witchel; Fiscal Year: 2001
    ..Correlation of clinical features with results of hormonal and genetic evaluations may help unravel the sequence of events leading to chronic anovulatory hyperandrogenism. ..
  8. 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...
  9. MOLECULAR GENETICS OF CONGENITAL ADRENAL HYPERPLASIA
    Perrin White; Fiscal Year: 2001
    ..Transcriptional regulatory elements in CYP11B1 and (especially) CYP11B2 will be identified using sequential deletions of 5' flanking regions in reporter constructs, gel retardation and DNAse I footprinting assays. ..
  10. ANDROGEN METABOLISM IN CHILDHOOD--SUPPLEMENT
    Maria New; Fiscal Year: 2000
    ..Finally, families at risk for 21-OHD will undergo prenatal diagnosis and treatment. ..
  11. THE MOLECULAR BASIS OF ADRENARCHE: DISSECTION OF P450C17
    Richard Auchus; Fiscal Year: 2000
    ..abstract_text> ..
  12. Reproductive Consequences of Prenatal Androgenization
    Vasantha Padmanabhan; Fiscal Year: 2005
    ..Specifically it will establish that discrete, experimentally induced androgen excess of fetal sheep provides the first clear etiology for hyperandrogenic anovulation in adulthood. ..
  13. STUDY OF WOMEN WITH CONGENITAL ADRENAL HYPERPLASIA
    CLAUDE MIGEON; Fiscal Year: 2004
    ..Furthermore, information obtained from this study will contribute to improved medical and surgical treatment of CAH women. ..
  14. Developmental Psychobiology of Premature Adrenarche
    LORAH DORN; Fiscal Year: 2004
    ..Information may lead to prevention/intervention efforts to reduce emotional and behavior problems and cognitive difficulties in children with PA. ..
  15. STRUCTURE AND REGULATION OF CYTOCHROMES P-450
    Peter Hall; Fiscal Year: 1990
    ..These studies of microsomal proteins will make use of well characterized antibodies that cross-react with the above proteins from pig and rat microsomes...
  16. REGULATION OF MURINE 21-HYDROXYLASE GENE EXPRESSION
    Jonathan Seidman; Fiscal Year: 1992
    ..6) Clone the genes encoding the transacting factors. Characterization of these proteins and the genes that encode them should provide considerable insight into the process of tissue-specific gene expression...
  17. HORMONAL REGULATION OF STEROIDOGENESIS
    Synthia Mellon; Fiscal Year: 1990
    ..In situ hybridization histochemistry can then identify loci of differential regulation of each of these enzymes. The feasibility of the proposed experiments has already been demonstrated by our preliminary data...
  18. 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. ..
  19. 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. ..
  20. 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. ..
  21. 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. ..
  22. 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. ..
  23. PSYCHOBIOLOGY OF CONGENITAL ADRENAL HYPERPLASIA (CAH)
    HEINO MEYER BAHLBURG; Fiscal Year: 2002
    ..The findings will contribute to our understanding of psychosexual differentiation in general and to the resolution of ongoing major controversies in the clinical management of patients with intersexuality. ..
  24. 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? ..
  25. 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. ..
  26. ANDROGEN EXCESS DISORDER
    Ricardo Azziz; Fiscal Year: 2004
    ..The institution has committed to releasing the Candidate from other duties in order for him to dedicate at least 50% of his time to the research and mentoring activities. ..
  27. Molecular Defects of Insulin Signaling in PCOS
    Ricardo Azziz; Fiscal Year: 2004
    ..Long term, these studies have the potential of eventually elucidating the etiologic mechanism(s) in some, or most, patients; helping to develop targeted therapies; and guiding the search for molecular markers for PCOS. ..
  28. 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. ..
  29. ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY
    Songya Pang; Fiscal Year: 2002
    ....
  30. Variations of Complement in Immunity and Diseases
    CHACK YU; Fiscal Year: 2007
    ..abstract_text> ..
  31. Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets
    KAREN LOECHNER; Fiscal Year: 2008
    ..Furthermore, they may allow for improved treatment in hypersecretory conditions, such as CAH. ..
  32. REGULATORY MECHANISMS OF GROWTH-PLATE CHONDROCYTES
    Robert Olney; Fiscal Year: 2002
    ..Conversely, by identifying the important regulators of the human growth-plate, we will provide clues to direct the search for the genes responsible for some of the osteochondrodysplasias. ..