Middle East Fertility Society Journal (Jan 2010)

A case report of an XX male with complete masculinization but absence of the SRY gene

  • Ghalia Abou Alchamat,
  • Marwan Alhlabi,
  • Muhyiddin Issa

DOI
https://doi.org/10.1016/j.mefs.2010.03.010
Journal volume & issue
Vol. 15, no. 1
pp. 51 – 53

Abstract

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A 34-year old man with complete masculinization and a history of several years of infertility was referred to us for genetic reviewing. His semen analysis showed azoospermia. Conventional chromosomal analysis indicates a 46,XX karyotype, molecular analyses excluded the presence of SRY (the sex-determining region of the Y chromosome) gene. This case is one of the rare cases reported in the literature in whom testicular differentiation and complete virilization were found in a 46,XX chromosomal constitution, with the absence of SRY gene. This finding suggests that other genes downstream from SRY play an important role in sex determination. Through reporting this rare case and reviewing previous literatures, the aim of this report is to highlight the value of genetically screening all males with azoospermia who present for evaluation of infertility, since the phenotype does not always correlate with the genotype.

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