2023年7月31日 · 21-hydroxylase deficiency is an autosomal recessive disorder caused by a deficiency in one of the enzymes required for the synthesis of cortisol in the adrenal glands. 21-Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia but can be a challenge to diagnose and treat.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands. [1] It is classified as an inherited metabolic disorder.

2024年3月22日 · People with classic CAH can be seriously affected by a lack of cortisol, aldosterone or both. This is known as an adrenal crisis. It can be life-threatening. External genitals that don't look typical. In female infants, some parts of the genitals on the outside of the body may look different than usual.

21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens.

21-Hydroxylase deficiency causes 90% of all cases of congenital adrenal hyperplasia. Incidence ranges from 1/13,000 to 1/16,000 live births (1, 2). Disease severity depends on the specific CYP21A2 mutation and degree of enzyme deficiency.

2002年2月26日 · 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex.

21-羟化酶缺乏症（21-hydroxylase deficiency，21-OHD）是 先天性肾上腺增生症 （congenital adrenal hyperplasia，CAH）中最常见的类型，是由于编码21-羟化酶的CYP21A2基因缺陷导致肾上腺皮质类固醇激素合成障碍的一种先天性疾病，呈 常染色体隐性遗传 。经典型患者可发生 ...

2020年7月1日 · 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21- hydroxylase deficiency is responsible for about 95 percent of all cases of congenital

21-羟化酶缺乏症 （英語： 21-OHD）是一种罕见的 常染色体 隐性 遗传病。 [1] 该疾病会导致21-羟化酶缺乏，从而导致 肾上腺前体 向 皮质醇 的缺陷转化，最终导致 先天性肾上腺增生症。 同时，21-OHD还有可能引起严重的 低钠血症 和 高钾血症，同时在一些情况下导致 醛固酮 缺乏。 [2] 而依据21-羟化酶残留活性差异，21-OHD在临床上可分为失盐型、单纯男性化型及非经典型。 [3]

The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of CAY21A2 and is prevalent between 1 in 18,000 and 20,000 in Japan. The clinical guidelines for 21-hydroxylase deficiency in Japan have been revised twice since a diagnostic handbook in Japan was published in 1989.