5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitalia

ABSTRACT

5-alpha reductase is an enzyme which is responsible for the conversion of testosterone to dihydrotestosterone (DHT) in the peripheral tissues. It plays a key role in the development of male external genitalia. The present study was carried to make a clinical presentation of fivemale patients diagnosed with 5-alpha reductase deficiency resulting in the developmental disorder of male sexuality as well as to draw attention to the patients’ medical history, physical examination and laboratory features.A test group comprising of five male subjects previously diagnosed with 5-alpha reductase deciency after being hospitalized and a series of examinations between April 2007 and July 2014, were enrolled in the study. Physical examination, hormonal profiles, radiological findings and karyotype analyses of the patients were carried out and their previous medical history was recorded. All the patients with karyotype 46 XY were raised as a female. They had external genitalia similar to each other and expressed a lower level of DHT. The patients with a disorder of male sex development, who expressed lower levels of dihydrotestosterone, must be checked for 5-alpha reductase deficiency.