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MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA--PHENOTYPE/GENOTPE

MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA--PHENOTYPE/GENOTPE
先天性肾上腺增生症的分子诊断--表型/基因型
批准号：
6276740
负责人：
SELMA FELDMAN WITCHEL
金额：
$1.51万
依托单位：
CHILDREN'S HOSP PITTSBURGH/UPMC HLTH SYS
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
项目状态：
已结题
起止时间：
1997-12-01 至 1998-11-30
来源：
https://reporter.nih.gov/project-details/6276740
关键词：
child (0-11) clinical research congenital adrenal hyperplasia endocrine disorder diagnosis enzyme deficiency gene mutation genotype hormone regulation /control mechanism human genetic material tag human subject hypothalamic pituitary adrenal axis oxygenases pathologic process phenotype

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中文摘要
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英文摘要
To utilize the congenital adrenal hyperplasia, inborn errors of steroidogenesis, to improve knowledge regarding the pathophysiology of disorders associated with hyperandrogenism. A secondary goal is better understanding of how the hypothalamic-pituitary-adrenal axis functions. Correlation of clinical features, hormonal (Biochemical) phenotype, and genotype. The information obtained from this study will help develop optimal treatment for children with congenital adrenal hyperplasia and differentiate which children with mild hyperandrogenism require treatment with glucocorticoid and/or mineralocorticoid medications. Work in progress suggests a heterozygote advantage for 21-hydroxylase deficiency. Studies are being developed to test this hypothesis.
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STUDIES OF ABNORMAL SEXUAL DIFFERENTIATION AND DEVELOPMENT:SERUM INHIBIN B & FSH
STEROIDOGENESIS IN HYPERANDROGENISM
EVALUATION & TREATMENT OF ABNORMALITIES OF GONADAL OR PUBERTAL DEVELOPMENT
MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA: PHENOTYPE/GENOTYPE
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