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GTR Home > Conditions/Phenotypes > 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Synonyms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Familial incomplete male pseudohermaphroditism, type 2; Male pseudohermaphroditism due to 5-alpha-reductase deficiency; Pseudovaginal perineoscrotal hypospadias; Steroid 5-Alpha-Reductase Deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , SRD5A2
    Summary: steroid 5 alpha-reductase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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