先天性 肾上腺皮质 增生症（CAH）是较常见的 常染色体隐性遗传病，由于 皮质激素 合成过程中所需酶的先天缺陷所致。 皮质醇 合成不足使血中浓度降低，由于负反馈作用刺激垂体分泌促 …

先天性肾上腺皮质增生症(cah)是一组因肾上腺皮质激素合成途径中酶缺陷引起的常染色体隐性遗传病，临床上可表现为两性畸形、假性性早熟或婴儿肾上腺危象，易漏诊或误诊。

Diagnosis of classic CAH during neonatal age activates concerns and anxiety in parents related to the risk of electrolyte crises, genital ambiguity at birth, and the effects of hyperandrogenism on …

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [1] [2] It results from the deficiency of one of the five enzymes …

2023年7月26日 · Congenital adrenal hyperplasia (CAH) in its severe salt-wasting form is a challenge for pediatric endocrinologists in order to maintain water and sodium homeostasis, …

2024年12月24日 · The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in …

2024年1月11日 · Most people with congenital adrenal hyperplasia (CAH) lack an enzyme called 21-hydroxylase. The adrenal glands need this enzyme to make enough cortisol and …

Infants with CAH may very quickly develop adrenal insufficiency, hypoglycemia, metabolic acidosis, dehydration and shock. There are two classifications of CAH due to 21 hydroxylase …

2009年7月1日 · Congenital adrenal hyperplasia (CAH) refers to a family of inherited disorders of adrenal steroidogenesis. The common functional defect in each disorder is impaired cortisol …

2023年6月1日 · Congenital adrenal hyperplasia (CAH) affects your adrenal glands. These glands sit atop your kidneys and produce different hormones cortisol and aldosterone. Both are …