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

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dc.contributor.authorPekkolay, Zafer
dc.contributor.authorKilinc, Faruk
dc.contributor.authorTuzcu, Sadiye Altun
dc.contributor.authorSoylu, Hikmet
dc.contributor.authorTuzcu, Alpaslan Kemal
dc.date.accessioned2024-04-24T17:20:22Z
dc.date.available2024-04-24T17:20:22Z
dc.date.issued2017
dc.departmentDicle Üniversitesien_US
dc.description.abstract5-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 five male 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.cen_US
dc.identifier.doi10.25179/tjem.2017-56481
dc.identifier.endpage63en_US
dc.identifier.issn1301-2193
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85020223230
dc.identifier.scopusqualityQ4
dc.identifier.startpage60en_US
dc.identifier.urihttps://doi.org/10.25179/tjem.2017-56481
dc.identifier.urihttps://hdl.handle.net/11468/18982
dc.identifier.volume21en_US
dc.identifier.wosWOS:000406492400007
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofTurkish Journal of Endocrinology and Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject5-Alpha Reductase Deficiencyen_US
dc.subjectDihydrotestosteroneen_US
dc.subjectAmbiguous Genitaliaen_US
dc.title5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitaliaen_US
dc.title5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitalia
dc.typeArticleen_US

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