April - June 2015, Volume 11, Issue 2

Dinu Draganescu D, Militaru M, Trifa A

A Case of 46,XX Testicular Disorder of Sex Development: Clinical, Molecular and Cytogenetic Studies

Acta Endo (Buc) 2015, 11 (2): 233-239
doi: 10.4183/aeb.2015.233

Aim. To investigate the cause of infertility in an azoospermic man and to describe the phenotype of a new 46,XX male case. Case report. We present the case of an infertile man, 33 years old, with a history of several years of infertility, diagnosed with the 46,XX male syndrome, SRY positive. The patient was diagnosed by clinical, hormonal, ultrasound and genetic criteria. Our patient was born at 39 weeks of pregnancy, from unrelated parents. The mother’s age was 22 years old and father’s age was 23 years old at the time of the conception. Both of his parents were exposed to chemical noxae before his conception. The case we report is a SRY positive 46,XX male with complete masculinization, confirmed by FISH and molecular analyses, caused by an X/Y chromosome inter-change during paternal meiosis. Conclusions. In our case, the SRY translocation, could probably be related to the paternal exposure to external factors like chemical noxae, but more data are necessary. Cytogenetic and molecular analyses are necessary for an accurate diagnosis, as well as endocrine testing and pelvis ultrasound.

Keywords: 46,XX testicular DSD, infertility, SRY gene, molecular analyses, FISH.

Correspondence: Mariela Militaru MD, Genetic Department, “Iuliu Ha?ieganu” University of Medicine and Pharmacy, Victor Babe? no.8, 400012, Cluj-Napoca, Romania, phone: +40264597256, E-mail: dr.mariela.militaru@gmail.com