46XX Testicular Disorder of Sex Development

Abstract

In this case report, we present the case of a 31-year-old man who presented with primary infertility, azoospermia and occasional sexual dysfunction. History and general physical examination were unremarkable. Local examination showed bilateral low volume testes and remaining aspects of the male reproductive tract were unremarkable. Detailed investigation showed a hypergonadotropic hypogonadism suggestive of primary testicular failure. Genetic screening showed a 46XX karyotype and Y chromosome testing was positive for sex-determining region (SRY) gene. Ultrasound abdomen was normal renal system and adrenal glands. A diagnosis of 46XX testicular disorders of sex development (DSD) was made. The incidence of this disorder is estimated to be 1:20,000 males. Such syndromic male partners generally have normal external genitalia and discover this disorder only in adulthood because of infertility. Such men have small volume testes, azoospermia and hypergonadotropic hypogonadism. Genetic and endocrine consultations are necessary to manage hypergonadotropic hypogonadism. Testicular sperm extraction is not recommended as there are deletions in all regions of Y chromosome, and adoption or assisted reproduction technology with a sperm donor are fertility options.

Keywords: Abnormal karyotype; SRY positive; azoospermia; primary infertility.