An offbeat presentation of primary male infertility: de la Chapelle syndrome

In 20-30% cases of infertility, a primary defect is found in the male partner and contribute to 50% of patients overall. Studies have shown that the prevalence of both numerical and structural chromosomal abnormalities is increased in such men. A few genes have been implicated in sex development during gonadal and functional differentiation, where the maintenance of the somatic sex as either male or female is achieved by the suppression of the alternate route. One such entity in the vast group of male infertility etiologies is the de la Chapelle syndrome or 46, XX testicular disorder of sex differentiation (DSD), which is a rare disorder characterized by discordance between the male phenotype and the female karyotype. This syndrome's exact molecular and genetic basis is yet to be described in full potential. Due to the rare diagnosis of such cases, we report this case of infertile male diagnosed as SRY-positive 46, XX testicular DSD, aiming to add to the previously reported cases in the literature.