"congenital adrenal hyperplasia" 的定义和意义

What is "congenital adrenal hyperplasia"?

Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which produce hormones that control various bodily functions. In CAH, there is a shortage in one of the enzymes needed to make these hormones, leading to problems in the normal production of cortisol, which is a stress hormone, and aldosterone, which is a hormone that helps control salt and water balance in the body. This can result in a range of symptoms, including abnormal development of sexual characteristics, dehydration, low blood sugar, and salt imbalances. CAH is usually detected through newborn testing or when symptoms appear as a baby or in early childhood. Treatment typically involves lifelong hormone replacement therapy to replace the lacking hormones and manage symptoms.