3-Beta-Hydroxysteroid Dehydrogenase Deficiency


Type of disease: Rare conditions

3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects both men and women. It is characterized by abnormalities in the gonad (ovaries in females and testes in males) and adrenal (regulate hormones and control salt levels in the body) glands. 3β-HSD deficiency impairs hormone production and interferes with sexual development. There are three types of 3β-HSD deficiency: non-salt wasting, salt-wasting, and non-classic. In salt-wasting you loose large amounts of salt through urine. This type is usually diagnosed right after birth. Symptoms include: dehydration, vomiting, and poor feeding. If you have the non-salt wasting type you will be able to produce enough hormones to reabsorb salt. The non-classic type does not include salt-wasting, and has the mildest symptoms. Males with 3β-HSD deficiency often have abnormal external genitalia and cannot have biological children. Females with 3β-HSD deficiency usually have slight abnormalities in external genitalia, and if they do not have the salt-wasting type, are not diagnosed until puberty when they have symptoms including: irregular menstruation, premature pubic hair growth, and excessive body hair growth. Females with 3β-HSD deficiency are usually infertile. Treatment for this condition may include medication to replace certain hormones (glucocorticoids, mineralocorticoids, and sex steroids).

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