Congenital adrenal hyperplasia
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British pronunciation/kəndʒˈɛnɪtəl ɐdɹˈiːnəl hˌaɪpəplˈeɪziə/
American pronunciation/kəndʒˈɛnɪɾəl ɐdɹˈiːnəl hˌaɪpɚplˈeɪʒə/
CAH

"congenital adrenal hyperplasia"の定義と意味

Congenital adrenal hyperplasia
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先天性副腎過形成, 先天性副腎疾患

a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands

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.

congenital adrenal hyperplasia

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