MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA--PHENOTYPE/GENOTPE

利用先天性肾上腺皮质增生症，先天缺陷 类固醇合成，以提高对类固醇激素的病理生理学的认识 与高雄激素症相关的疾病。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 基因分型。从这项研究中获得的信息将有助于开发 儿童先天性肾上腺皮质增生症的最佳治疗 区分哪些患有轻度高雄激素症的儿童需要治疗 使用糖皮质激素和/或盐皮质激素药物。在.工作 进展表明21-羟基酶缺乏症具有杂合子优势。 检验这一假说的研究正在进行中。

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.