AI Summary & Key Takeaways
AI InsightBiochemical evaluations revealed normal male testosterone levels and inapproriately low dihydrotestosterone levels and an elevated testosterone to dihydrotestosterone ratio.
📌 3 Key Takeaways
Abstract
The diagnosis of 5_ alpha reductase deficiency was seen in three adolescent patients with male pseudohermaphroditism. They were brought up as females but they had a 46 XY karyotype. The phenotypes of the subjects were obviously male with male muscle and fat apportionment, a deep voice and no gynecomastia. They had decreased body hair, a scant to absent beard and no temporal hairline recession. Cliteromegaly, bifid scrotum, short vaginal pouch, inguinal gonads were present in three patients. The internal wolffian structures with a vas deferens, epididym and seminal vesicles were normally present. There were no mullerian structures. Biochemical evaluations revealed normal male testosterone levels and inapproriately low dihydrotestosterone levels and an elevated testosterone to dihydrotestosterone ratio.
Özet
Male pseudohermafrodit olan 3 adelösan hastada 5 alpha redüktaz eksikliği tespit edildi. Her 3 hasta da kız çocuğu olarak yetiştirilmişlerdi, fakat karyotipleri 46 XY'idi. Fenotipleri ise erkek tipi kas yapısı, erkek tipi yağ dağılımı ve jinekomasti olmamasıyla erkek görünümündeydi. Vücut kılları ve sakalları yok denecek kadar azdı ve erkek tipi temporal saç çizgisi oluşmamıştı. Her 3 hastada da klitoromegali, bifid scrotum, kısa vajinal poş ve ingüinal gonadlar mevcuttu. İnternal wolfian yapılar, vas deferens, epididymis ve vesica seminalis normal olarak mevcuttu. Müllerien yapılar yoktu. Biyokimyasal testlerde ise, normal erkek testosteron değerleri, düşük dihidrotestosteron ve yükselmiş testosteron dihidrotestosteron oranı mevcuttu.