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
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 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

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.

利用先天性肾上腺皮质增生症， 类固醇生成，以提高有关的病理生理学知识， 与高雄激素血症有关的疾病。 次要目标更好 了解下丘脑-垂体-肾上腺轴的功能。 临床特征、激素（生化）表型和 基因型 从这项研究中获得的信息将有助于开发 先天性肾上腺皮质增生症患儿的最佳治疗方法， 区分哪些轻度高雄激素血症儿童需要治疗 糖皮质激素和/或盐皮质激素药物。 工作 研究进展表明21-羟化酶缺乏的杂合子优势。 目前正在开展研究来检验这一假设。