GTR Home > Conditions/Phenotypes > 3 beta-Hydroxysteroid dehydrogenase deficiency

Summary

3-beta (ß)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3ß-HSD deficiency lack many of the hormones that are made in these glands. 3ß-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation. There are three types of 3ß-HSD deficiency: the salt-wasting, non-salt-wasting, and non-classic types. In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after ... birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting. People with the non-salt-wasting type of 3ß-HSD deficiency produce enough hormone to allow sodium reabsorption in the kidneys. Individuals with the non-classic type have the mildest symptoms out of all the types and do not experience salt wasting. In males with any type of 3ß-HSD deficiency, problems with male sex hormones lead to abnormalities of the external genitalia. These abnormalities range from having the opening of the urethra on the underside of the penis (hypospadias) to having external genitalia that do not look clearly male or female (ambiguous genitalia). The severity of the genital abnormality does not consistently depend on the type of the condition. Because of the hormone dysfunction in the testes, males with 3ß-HSD deficiency are frequently unable to have biological children (infertile). Females with 3ß-HSD deficiency may have slight abnormalities of the external genitalia at birth. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they experience irregular menstruation, premature pubic hair growth, and/or have excessive body hair growth (hirsutism). Females with 3ß-HSD deficiency are typically infertile. [from GHR] more

Available tests

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Associated genes

  • Also known as: RP5-871G17.2, HSD3B, HSDB, SDR11E2, HSD3B2
    Summary: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Clinical features

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  • Male pseudohermaphroditism
  • Hypospadias
  • Adrenal hyperplasia

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