Endocrine Abstracts

Introduction: 46, XX male syndrome–testicular disorder of sexual differentiation (DSD) is a rare condition, that was first described by la Chapelle et al. in 1964. The phenotypes of 46, XX testicular DSD include males with normal phenotype, males with genital ambiguities or males with true hermaphrodites. The diagnosis may be more difficult in adults with normal gender development than in children. Here, we present hormonal and cytogenetic conditions of an adult male who was diagnosed as primary hypogonadism with 46, XX male syndrome.

Case: A 39-year-old male presented with erectile dysfunction, decreased sexual desire and infertility. His height and weight were 163 cm and 75 kg, respectively, with a body mass index of 28.3 kg/m2. On physical examination, he had bilateral painless gynecomastia. His testicles were in the scrotum, but they were small and soft. The size of the penis was small. In laboratory analysis, FSH and LH levels were over the upper normal limit, and total testosterone level was below the normal limit (Table 1). Hormonal analyses showed hypergonadotropic hypogonadism. Scrotal ultrasonography showed small testicles localized in the scrotum (right testicle was 80 × 15 mm, left testicle was 9 × 10 × 17 mm). Spermiogram was performed and it was found to be compatible with azoospermia. Karyotype analysis was performed and 46, XX was detected. FISH analysis and molecular analysis for SRY gene was performed, but the result has not been released yet. After testosterone replacement therapy, the patient’s complaints decreased at follow-up.

Conclusion: Hypergonadotropic hypogonadism that develops due to genetic causes is rarely seen. One of them is 46, XX karyotype testicular DSD disorder, which is an uncommon sex reversal syndrome characterized by a female karyotype in discordance with a male phenotype. Diagnosis depend on karyotype, molecular and cytogenetic analysis. Klinefelter’s syndrome and mosaic forms should be considered in the differential diagnosis of these rare syndromes, which are differentiated by karyotype analysis. Proper treatment with the timely diagnosis will contribute positively to bone mineral density and their sexual development.