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Description

21-hydroxylase deficiency is an inherited disorder caused by a mutation in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is involved in the production of hormones called glucocorticoids and mineralocorticoids. These hormones help regulate the body's response to stress, the balance of salt and water in the body, and other processes. When the CYP21A2 gene is mutated, the body does not produce enough 21-hydroxylase enzyme, leading to a buildup of hormones in the body and a variety of symptoms. Symptoms of 21-hydroxylase deficiency can include salt craving, low blood pressure, low blood sugar, and abnormal genitalia in males. In some cases, the disorder can also cause infertility. Treatment for 21-hydroxylase deficiency typically involves hormone replacement therapy and lifestyle changes.

Synonyms

• adrenal hyperplasia III
• CAH1
• classical CAH
• classical congenital adrenal hyperplasia
• congenital adrenal hyperplasia 1
• CYP21 deficiency

Symptoms (patient's findings)

• amenorrhea

Basic Lab Tests (measurements)

• plasma
  •      androstenedione
  •      17-hydroxyprogesterone
  •      dehydroepiandrosterone
  •      aldosterone
  •      cortisol
  •      renin
• serum
  •      potassium
  •      free testosterone
  •      testosterone
  •      chloride
• urine
  •      17-alpha-hydroxylase
  •      pH
  •      ammonia
  •      17-ketosteroids
  •      aldosterone
  •      anion gap
  •      pregnanetriol

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: