Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are avail...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2018-03-01
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| Series: | Endocrine Connections |
| Subjects: | |
| Online Access: | http://www.endocrineconnections.com/content/7/3/395.full.pdf+html |