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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
20-22-desmolase deficiency

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Description

Lipoid congenital adrenal hyperplasia (lipoid CAH) is a rare, inherited disorder caused by a deficiency of the enzyme steroid sulfatase (STS). This enzyme is responsible for breaking down cholesterol and other lipids in the body. Without it, cholesterol and other lipids accumulate in the adrenal glands, leading to an overproduction of hormones, such as cortisol and androgens. This can cause a variety of symptoms, including early puberty, infertility, and abnormal sexual development. Treatment typically involves hormone replacement therapy and lifestyle modifications.

Synonyms
  • adrenal hyperplasia I
  • LCAH
  • lipoid congenital adrenal hyperplasia
  • StAR deficiency
  • steroid acute regulatory protein deficiency

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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