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21 HYDROXYLASE DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA

21 HYDROXYLASE DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA
21 羟化酶缺乏症 先天性肾上腺增生
批准号：
6246628
负责人：
SELMA FELDMAN WITCHEL
金额：
$1.91万
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：
1996
资助国家：
美国
项目状态：
已结题
起止时间：
1996-12-01 至 1997-11-30
来源：
https://reporter.nih.gov/project-details/6246628
关键词：
clinical research congenital adrenal hyperplasia enzyme deficiency family genetics gene mutation genotype hormone regulation /control mechanism human genetic material tag human subject hypothalamic pituitary axis oxygenases phenotype pituitary adrenal axis

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中文摘要
翻译
本研究的目的是利用先天性肾上腺皮质增生症， 类固醇合成的先天性错误，以提高有关 与高雄激素血症相关的疾病的病理生理学。 一 第二个目标是更好地了解下丘脑-垂体- 肾上腺轴功能 我们将临床特征，荷尔蒙 （生物化学）表型和基因型。 从这获得的信息 这项研究将有助于为先天性心脏病患儿制定最佳治疗方案。 肾上腺皮质增生与鉴别哪些儿童轻度 需要糖皮质激素治疗雄激素过多症和/或 盐皮质激素类药物
英文摘要
The goal of this study is 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. We are correlating 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.
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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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