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
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-12-01 至 1997-11-30
• 项目状态: 已结题
• 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

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.

本研究的目的是利用先天性肾上腺增生症， 类固醇生成的先天错误，以提高对类固醇生成的认识 与高雄激素血症相关的疾病的病理生理学。一个 次要目标是更好地了解下丘脑-垂体- 肾上腺轴功能。我们正在将临床特征、激素 (生化)表型和基因。从这一点上获得的信息 这项研究将有助于开发先天性心脏病儿童的最佳治疗方法 肾上腺增生症与轻症儿童的鉴别 高雄激素血症需要糖皮质激素和/或 盐皮质激素药物。