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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
17-20 desmolase deficiency

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Description

17-alpha-hydroxylase deficiency is an inherited disorder caused by a mutation in the CYP17A1 gene. This gene provides instructions for making an enzyme called 17-alpha-hydroxylase, which is involved in the production of hormones called androgens. Androgens are responsible for the development of male sexual characteristics. In people with 17-alpha-hydroxylase deficiency, the enzyme is either not produced or does not function properly, leading to a decrease in androgen production. This can cause a variety of symptoms, including ambiguous genitalia in newborns, delayed puberty, infertility, and an increased risk of developing certain types of cancer. Treatment typically involves hormone replacement therapy.

Synonyms
  • 17-alpha-hydroxylase deficiency
  • adrenal hyperplasia V
  • CYP17A1 deficiency
Symptoms (patient's findings)
  • amenorrhea
Signs (examiner's findings)
  • hypertension
Basic Lab Tests (measurements)

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