Abstract
BackgroundMale sex reversal syndrome is a rare genetic cause of male infertility with an overall incidence of 1/20,000–1/100,000 males. There is mismatching between the genetic make-up and the apparent clinical features. The clinical presentation of such cases is variable ranging from ambiguous genitalia at birth, failed puberty, up to normal male phenotype with infertility and hypogonadism. The exact molecular and genetic bases of this syndrome are still unclear. Most of the recorded cases were SRY positive (i.e. representing 80–90% of all cases), and they showed translocated SRY gene on the Y chromosome. Moreover, fewer cases of male sex reversal (46, XX) were SRY negative.Case presentationHerby, we report a rare case of a 35-year-old infertile male patient who presented with azoospermia, hypergonadotropic hypogonadism, and abnormal classical (46, XX) karyotype, as well as negative FISH for SRY gene. He had a previous negative biopsy and was asking for redoing micro-TESE, whoever he was discouraged as chances to find sperm is eventually nil, and instead, he was prescribed testosterone replacement therapy to correct hypogonadism.ConclusionTherefore, any case of non-obstructive azoospermia should be offered genetic testing trying to exclude non-treatable cases and for genetic counseling.
Highlights
Male sex reversal syndrome is a rare genetic cause of male infertility with an overall incidence of 1/20,000–1/100,000 males
The exact pathogenesis of this rare syndrome is still unknown, whereas in Sex-determining region on the Y chromosome (SRY) positive cases; it was found that the (SRY) gene was translocated into a sex chromosome or an autosome
Due to the rarity and underdiagnosis of such cases, we report this case of SRY negative (46, XX) infertile male aiming at adding to the previously reported cases in the literature hoping to find alternative modalities for managing such cases
Summary
Known as “46, XX male, 46, XX testicular DSD or de la Chapelle syndrome “ is a disorder of sexual differentiation (DSD) in which the gonadal sex (i.e. male phenotype) is not matching with the chromosomal sex (i.e. 46, XX). Genetic testing showed abnormal karyotyping (46, XX) in all examined cells as shown, besides that FISH analysis for the SRY gene was found to be negative. The patient was discouraged from undergoing testicular sperm extraction (TESE) as both testes were atrophic, and chances to find spermatogenic focus are eventually nil due to the absence of genes regulating spermatogenesis. He was prescribed hormone replacement therapy for hypogonadism to correct low testosterone levels for physical and sexual wellbeing in the form of testosterone enanthate 250 mg IM every 3 weeks with regular follow-up every 3 months. Regular self-examination of both testes and scrotal ultrasound assessment was recommended
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