3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Common Name(s)

3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency.
 

Author(s): N Hattori, T Ishihara, K Moridera, M Hino, K Ikekubo, H Kurahachi

Journal: Endocr. J.. 1993 Feb;40(1):107-9.

 

Late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency has been reported with increasing frequency, but only a few adult women have been found to have this disorder in Japan. We report a 26-year-old Japanese hirsute woman with partial 3 beta-hydroxysteroid ...

Last Updated: 29 Nov 1994

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Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency in young girls with hirsutism and premature pubarche.
 

Author(s): Y Nishi

Journal: Endocrinol. Jpn.. 1990 Oct;37(5):763-7.

 

Two young girls with hirsutism and premature pubarche showed nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. Post-ACTH increased serum delta 5-17-hydroxypregnenolone and increased ratio of delta 5-17-hydroxypregnenolone/17-hydroxyprogesterone are the most ...

Last Updated: 17 May 1991

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Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency with hyperaldosteronism.
 

Author(s): K Hashimoto, S Makino, T Takao, M Sugawara, S Suemaru, Z Ota

Journal: Endocrinol. Jpn.. 1988 Oct;35(5):675-83.

 

The patient was admitted to our hospital at 19 and again at 22-yr of age for hirsutism and hypertension. Her baseline and ACTH-stimulated plasma 17-hydroxy pregnenolone, dehydroepiandrosterone and dehydroepiandrosterone sulfate were increased whereas plasma 17-hydroxy progesterone ...

Last Updated: 16 Mar 1989

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Reviews from the PubMed Database

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The terms "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
 
 
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