Endocrine Abstracts

Introduction: Testicular disorder of sexual development (XX male syndrome; Chapelle syndrome) is a rare clinical condition. Incidence is 1:20 000 in newborn males. Characteristics of syndrome include hypogonadism, gynecomastia, and infertility resulting from the azoospermia. Diagnosis is mainly established after puberty. Clinical manifestations could be heterogeneous, but external genitalia appear to be completely virilized in 90% of 46,XX males: SRY-positive. Other manifestations such as hypospadias, undescended testes, or various degrees of inadequate virilization in the external genitalia are seen in 10% of the cases: SRY-negative.

Case report: In this paper we described a 31-year-old male with complete masculinization referred to geneticist because of a history of several years of infertility and established azoospermia. He had hypergonadotropic hypogonadism. FSH was elevated, LH was elevated, testosteron was lower. Peripheral blood karyotype showed a normal female karyotype (46,XX). FISH analysis revealed that SRY locus had been translocated to the short (p) arm of the X chromosome. A testosterone replacement therapy was initiated.

Conclusion: Etiology of infertility is heterogeneous. Karyotype should be performed in all males with azoospermia or severe oligospermia. Also, there is necessity of multidisciplinary approach.