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- Folsom, Lisal J.; Hjaige, Mariam; Liu, Jiayan; Eugster, Erica A.; Auchus, Richard J.
- Molecular and cellular endocrinology 2019 v.489 pp. 3-8
- genetic analysis, etc ; biosynthesis; enzymes; female genitalia; females; genes; germ cells; gonadectomy; males; masculinization; mutation; neoplasms; patients; phenotype; puberty; risk; testes; testosterone; Show all 18 Subjects
- ... 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is an autosomal recessive disorder of male sex development that results in defective testosterone biosynthesis. Although mutations in the cognate HSD17B3 gene cause a spectrum of phenotypic manifestations, the majority of affected patients are genetic males having female external genitalia. Many cases do not present until puberty, at whi ...