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Description

Beta-hydroxysteroid dehydrogenase deficiency is a rare genetic disorder caused by a mutation in the HSD3B2 gene. This gene is responsible for producing an enzyme called beta-hydroxysteroid dehydrogenase, which is involved in the metabolism of steroid hormones. When this enzyme is deficient, the body is unable to properly metabolize steroid hormones, leading to a variety of symptoms, including low levels of cortisol, a hormone that helps regulate blood pressure, glucose levels, and the body's response to stress. Other symptoms may include low levels of sex hormones, such as testosterone and estrogen, as well as an increased risk of developing certain types of cancer. Treatment typically involves hormone replacement therapy and lifestyle modifications.

Synonyms

• 3-beta-hydroxysteroid dehydrogenase deficiency
• adrenal hyperplasia II
• HSDB

Symptoms (patient's findings)

• amenorrhea

Basic Lab Tests (measurements)

• plasma
  •      androstenedione
  •      17-hydroxyprogesterone
  •      renin
  •      dehydroepiandrosterone
• serum
  •      testosterone
  •      free testosterone
• urine
  •      17-alpha-hydroxylase
  •      aldosterone
  •      pregnanetriol
  •      17-ketosteroids

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: