17β-hydroxysteroid dehydrogenase type 3 deficiency
- 17β-hydroxysteroid dehydrogenase type 3 deficiency
- an autosomal recessive disorder of sexual development caused by mutation in the HSD17B3 gene (locus: 9q22), which encodes the type 3 enzyme, characterized by male pseudohermaphroditism with variable gynecomastia.
Medical dictionary.
2011.
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