Endocrinology Research and Practice
Case Report

46,XX Male Syndrome

1.

Dışkapı Eğitim ve Araştırma Hastanesi, Endokrinoloji ve Metabolizma Hastalıkları Kliniği, Ankara, Türkiye

2.

Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey

3.

Ankara Yıldırım Beyazıt University Faculty of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey

4.

Dışkapı Eğitim ve Araştırma Hastanesi, Hücre Araştırma ve Genetik Tanı Merkezi, Ankara, Türkiye

Endocrinol Res Pract 2013; 17: 46-48
DOI: 10.4274/Tjem.2064
Read: 1196 Downloads: 324 Published: 01 June 2013

ABSTRACT

46, XX male syndrome – testicular disorder of sexual differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. 

 

 

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