Abstract

We propose to continue our clinical investigation of CAH which consists of a family of disorders of inherited enzymatic defects of adrenal steroidogenesis. We shall concentrate on the defect of steroid 21-hydroxylation and describe the hormonal and genetic basis for the clinical spectrum of virilization. The hormonal studies will distinguish the function of the fasciculata and glomerulosa in the 21-hydroxylase defect to examine the basis for salt-wasting and non-salt-wasting forms of CAH due to 21-hydrox-ylase deficiency. We will study gonadal function in patients with 21-hydroxylase deficiency. Pilot studies to demonstrate the feasibility of screening for CAH will be continued. Finally, we will study aldosterone regulation in CAH due to 21-hydroxylase deficiency and in dexamethasone suppressible hyperaldosteronism. These studies will provide a rational basis for genetic counselling and will also provide improved criteria for diagnosis and treatment of various forms of steriod 21-hydroxylase deficiency so that growth and puberty can proceed normally in these patients.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD000072-23
Application #
3310032
Study Section
Endocrinology Study Section (END)
Project Start
1977-06-01
Project End
1987-05-31
Budget Start
1986-06-01
Budget End
1987-05-31
Support Year
23
Fiscal Year
1986
Total Cost
Indirect Cost

  Institution

Name
Weill Medical College of Cornell University
Department
Type
Schools of Medicine
DUNS #
201373169
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

Khattab, Ahmed; Yuen, Tony; Al-Malki, Sultan et al. (2016) A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance. Ann N Y Acad Sci 1364:5-10
Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Haggerty, Rita et al. (2012) Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol 167:103-10
Lin-Su, Karen; Harbison, Madeleine D; Lekarev, Oksana et al. (2011) Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. J Clin Endocrinol Metab 96:1710-7
Ba?, Firdevs; Kayserili, Hülya; Darendeliler, Feyza et al. (2009) CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol 1:116-28
New, Maria I (2006) Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 91:4205-14
Nimkarn, Saroj; New, Maria I (2006) Prenatal diagnosis and treatment of congenital adrenal hyperplasia. Pediatr Endocrinol Rev 4:99-105
Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Baker, Susan W et al. (2004) Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia. Arch Sex Behav 33:97-104
Day, D J; Speiser, P W; Schulze, E et al. (1996) Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 5:2039-48
Day, D J; Speiser, P W; White, P C et al. (1995) Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction. Genomics 29:152-62
Zerah, M; Rheaume, E; Mani, P et al. (1994) No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency. J Clin Endocrinol Metab 79:1811-7

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