Endocrine Abstracts

The XX male syndrome, also called ‘de la Chapelle syndrome’, has been renamed as ‘46, XX testicular disorder of sex development’ (DSD) in 2006. It occurs in about 1/20 000 male newborns. We describe a 57-years-old male who referred to our andrological outpatient clinic because of erectile dysfunction. He was a smoker and suffered from 15 years of type 2 diabetes mellitus; he was also carrying a euthyroid multinodular goiter. The physical examination included the measurement of height (162 cm), body weight (69 kg), body mass index (BMI 26); moderate gynecomastia and regular external sex organs were present. No maldescended testis history at anamnesis. Prostate size was normal at ultrasound. Testicular volume was very low: right 1–2 ml, left 4–5 ml, with reduced consistency. Standard laboratory procedures to assess liver and kidney functions and blood count were normals. Serum levels of LH and FSH were high; testosterone (T) and prostate-specific antigen (PSA) levels were very low. Semen analysis, performed according to the WHO Laboratory Manual, revealed azoospermia in 2 different determinations, even after ejaculate centrifugation. Bone mineral density (BMD) revealed osteoporosis. A testis biopsy showed a histological profile of Sertoli Only Cell Syndrome. Karyotyping on peripheral blood lymphocytes was performed and SRY gene was localized using fluorescent in situ (hybridisation (FISH) with a SRY probe. FISH study ruled out the presence of a Y-bearing cell line, and confirmed translocation of SRY to Xp terminal part. The patient then underwent hormonal substitutive therapy with mucoadesive buccal testosterone (30 mg BID) with testosterone level normalization and recovery from erectile dysfunction. Our report indicates that DSD diagnosis is difficult and frequently late. Early diagnosis allows early parental counseling and alerts the physicians for further management.