Endocrine Abstracts

Introduction: De la Chapelle syndrome (46XX male syndrome) is a rare anomaly with the characterstics of discordant chromosomal and gonadal sex. Individuals with classical 46XX male sex reversal syndrome have an apparently normal male phenotype and presents with infertility or sub-fertility.

Case report: Twenty five year old male, married 2 years back, came to take opinion regarding his Infertility. He is a healthy looking male with well developed secondary sexual characteristics and normal external male genital phenotype with a normal sized penis and both testis in scrotum and are of normal consistency and volume. Testicular biopsy shows no active spermatogenesis. He was operated at the age of 14 years for an intracranial mass, the histological analysis shows dysembryoplastic neuroepithelioma, a rare benign neoplasm, cytogenetic analysis of which shows mosiac cell line. Sex karyotype in the mosiac and normal cell line was 46XX.

Conclusion: It is a rare disorder of sexual differentiation where the testes and male genitalia develop in the absence of Y chromosome and possibly without the SRY gene. Usually it is caused by unequal crossing over between X and Y chromosomes during meiosis. Is this condition is associated with increased incidence of neoplasm is still a question, needed to be answered. Klinefelter’s syndrome, another similar condition causing infertility, is known to have increased incidence of neoplasms.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.