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male pseudohermaphrodism with gynecomastia

Genetics: - associated with defects in HSD17B3 gene Clinical manifestations: 1) unambiguous female external genitalia at birth 2) fail to menstruate at the time of expected puberty 3) virilization with growth of phallus 4) breast development may or may not take place

Related

17 beta-hydroxysteroid dehydrogenase-3 [testicular] (estradiol 17 beta-dehydrogenase 3, HSD17B3)

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 264300

References

OMIM :accession 264300