3-beta-hydroxysteroid dehydrogenase deficiency
Other Names for this Disease
- 3-beta-HSD deficiency
- 3b-hydroxysteroid dehydrogenase deficiency
- Adrenal hyperplasia 2
- Adrenal hyperplasia II
- HSD3B deficiency
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congenital adrenal hyperplasia which refers to a group of conditions that interfere with the body's ability to make hormones. More specifically, people with this condition lack many of the hormones made in the gonads (testes in males; ovaries in females) and the adrenal glands. The signs and symptoms present in each person depend on many factors including the type of 3-beta-hydroxysteroid dehydrogenase deficiency (there are three distinct forms), the age of diagnosis, and the sex of the affected person. In general, the salt-wasting form is the most severe type and can even be life-threatening. People with this form are generally diagnosed at birth based on symptoms related to abnormal salt reabsorption (i.e. dehydration, poor feeding, vomiting). Males with any form of the condition often have abnormalities of the external genitalia and are frequently infertile. Females with the condition may have slight genital abnormalities at birth, but often go on to experience irregular menstruation, hirsutism, and infertility as they get older. 3-beta-hydroxysteroid dehydrogenase deficiency is caused by changes (mutations) in the HSD3B2 gene and is inherited in an autosomal recessive manner. Treatment varies but may include medications and/or surgery.3-beta-hydroxysteroid dehydrogenase deficiency is a form of
Last updated: 11/17/2015
- 3-beta-hydroxysteroid dehydrogenase deficiency. Genetics Home Reference. April 2015; http://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency.
- Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am. March 2001; 30(1):81-99.
- Genetics Home Reference (GHR) contains information on 3-beta-hydroxysteroid dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
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