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A rare case of male sex reversal syndrome (46, XX) with negative SRY gene: a disorder of sexual differentiation (DSD)
- Source :
- African Journal of Urology, Vol 27, Iss 1, Pp 1-4 (2021)
- Publication Year :
- 2021
- Publisher :
- SpringerOpen, 2021.
-
Abstract
- Background Male 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 presentation Herby, 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. Conclusion Therefore, any case of non-obstructive azoospermia should be offered genetic testing trying to exclude non-treatable cases and for genetic counseling.
- Subjects :
- Urology
Genetic counseling
030232 urology & nephrology
Hypergonadotropic hypogonadism
Physiology
Y chromosome
Male infertility
03 medical and health sciences
0302 clinical medicine
medicine
XX DSD
Genetics
Azoospermia
AZF
Male Phenotype
business.industry
Sex reversal
medicine.disease
Diseases of the genitourinary system. Urology
Testis determining factor
030220 oncology & carcinogenesis
RC870-923
business
Subjects
Details
- Language :
- English
- ISSN :
- 19619987 and 11105704
- Volume :
- 27
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- African Journal of Urology
- Accession number :
- edsair.doi.dedup.....db776a18fe2f3eed73864cb39fd95dae