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 · The most common cause of CAH is the lack of the enzyme protein known as 21-hydroxylase. Sometimes, CAH is called 21-hydroxylase deficiency. The body needs this enzyme to make proper amounts of hormones. Very rarely, a lack of other much rarer enzymes also can cause CAH. CAH is a genetic condition. That means it's passed from parents to children.

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.

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. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some ...

21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia and hyperkalemia. Accumulated hormone precursors are shunted into …

2020年9月23日 · CAH is a disease of multiple hormonal imbalances. Mutations in CYP21A2 (the gene encoding 21-hydroxylase, a cytochrome P-450 enzyme) result in lack of 21-hydroxylase, which is required for...

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 adrenal hyperplasia. Mutations in the gene cause 21-hydroxylase deficiency.

Classic 21-OHD CAH is caused by a genetic pathogenic variant in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, blood hormone testing and may be confirmed by the results of genetic testing. Classic 21-OHD CAH can be diagnosed through a newborn screen. Summary.

2023年9月7日 · 21OHD is an autosomal recessive inherited disorder due to a mutation of CYP21A2 located on chromosome 6p21.3 encoding for 21-hydroxylase (a cytochrome P-450 enzyme). Biallelic pathogenic variants of CYP21A2 compromise 21-hydroxylase activity leading to 21OHD (Merke and Auchus 2020).

3 天之前 · Abstract. Of all types of congenital adrenal hyperplasia (CAH) 95-99% is 21-hydroxylase deficiency (21OHD) which is an autosomal recessive disease. 21OHD is due to an insufficiency of 21-hydroxylase enzyme which is encoded by the CYP21A2 gene and involved in cortisol and aldosterone production. The clinical presentation differs widely from severe classic to mild nonclassic CAH. 21OHD ...