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Introduction Autosomal recessive defect in 5-reductase in XY males impaired conversion of testosterone to dihydrotestosterone (DHT) ambiguous genitalia until puberty, where elevated testosterone levels leads to masculinization DHT plays an important role in the development of the external genitalia Epidemiology not life threatening usually identified in the neonatal period due to ambiguous genitalia Presentation Physical symptoms normal internal gonads ambiguous genitalia gynecomastia is very rare Evaluation Usually diagnosed in infancy Laboratory testing karyotyping testosterone-to-DHT ratio Differential Diagnosis Androgen insensitivity syndrome 17-hydroxysteroid dehydrogenase 3 deficiency Treatment Patient education Gender assignment In those with maintained female gender role gonadectomy estrogen therapy In those with maintained male gender role surgical intervention Prognosis, Prevention, and Complications Complications if cryptorchidism, increased risk of testicular cancer

Rinderknecht E, Humbel RE

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