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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)

• plasma
  •      dehydroepiandrosterone sulfate
  •      corticotropin
  •      renin
  •      17-hydroxyprogesterone
  •      dehydroepiandrosterone
  •      luteinizing hormone
  •      androstenedione
  •      progesterone
  •      aldosterone
  •      follicle-stimulating hormone
  •      cortisol
• serum
  •      sodium
  •      potassium
  •      testosterone
• urine
  •      17-alpha-hydroxylase
  •      pregnanetriol
  •      17-ketosteroids
  •      aldosterone
• vital signs
  •      blood pressure

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: