2024年3月22日 · Congenital adrenal hyperplasia (CAH) is the medical name for a group of genetic conditions that affect the adrenal glands. The adrenal glands are a pair of walnut-sized organs above the kidneys. They make important hormones, including: Cortisol. This controls the body's response to illness or stress. Mineralocorticoids such as aldosterone.

Congenital adrenal hyperplasia (CAH) describes a group of hereditary (inherited) genetic disorders affecting your adrenal glands. The two main types of CAH are classic and non-classic. Classic is diagnosed at birth, and nonclassic is typically diagnosed during adolescence.

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect your adrenal glands. These glands produce hormones your body needs to function properly. An imbalance in these hormones can cause symptoms affecting sexual development. Treatment includes various steroids to replace the hormones your body can’t make.

2023年7月17日 · Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands.

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 required for the synthesis of cortisol in the adrenal cortex. [3]

What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls. The adrenal glands are located above the kidneys and produce three types of hormones: People with CAH cannot properly make cortisol and in some cases, are unable to produce aldosterone.

先天性腎上腺增生症 （英語： Congenital adrenal hyperplasia，简称：CAH）是指一组与肾上腺激素生物合成完全（经典形式）或部分（非经典）异常有关的疾病。 这种情况的特点是皮质醇或醛固酮分泌不足（经典型伴有盐分流失），与肾上腺雄激素过度分泌有关。 在经典形式中，代谢失代偿（脱水伴低钠血症、高钾血症和酸中毒伴盐皮质激素缺乏，低血糖伴糖皮质激素缺乏）可能从新生儿期开始危及生命。 受影响的女性在出生时可能会发现生殖器变异。 慢性高雄激素血症可能 …

Congenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex.

Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition.

Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency.