Evaluation of sexual function and micro-testicular sperm extraction in men with mosaic Turner syndrome

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dc.contributor.authorSalvarci, Ahmet
dc.contributor.authorZamani, Aysegul
dc.date.accessioned2024-02-23T14:37:43Z
dc.date.available2024-02-23T14:37:43Z
dc.date.issued2018
dc.departmentNEÜen_US
dc.description.abstractBackground. Men with mosaic Turner syndrome (TS) having karyotype 45, X/46, XY are infrequently seen. Their sexual function and fertility potential are not well documented. We describe the sexual function and outcomes of sperm extraction in 5 such men who were evaluated between 2008 and 2017. Methods. Five phenotypic men diagnosed to have mosaic TS underwent detailed physical examination, semen analysis and evaluation of follicle-stimulating hormone, luteinizing hormone, prolactin and total testosterone. Blood, testis, oral mucosa and skin fluorescence in situ hybridization (FISH) analyses were done for evaluating the karyotype. Genomic DNA was extracted from peripheral blood for molecular analysis of azoospermic factor (AzF) deletions. Sexual function was assessed using the International Index of Erectile Function-5 (IIEF-5). One patient also underwent micro-testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI). Results. All 5 men had a mosaic 45, X/46, XY genotype and the sex-determining region (SRY) was positive in DYZ1negative cells. None had a deletion in the AzF a, b or c regions. Sperm was detected in 3 patients through micro-TESE but ICSI could be done in only 1 patient. No embryo development was identified in time lapse (Embryoscope (c)) follow-up. It was observed that the rate of 46, XY was particularly high in gonadal tissues in the mosaic structure in patients detected to have sperms. Conclusion. Patients with TS having 45, X/46, XY, SRY(+), with no AzF deletions, and a high percentage of 46, XY in the peripheral blood, especially in gonadal tissues, could have a healthy sexual life and possibly father a child through in vitro fertilization or ICSI upon detection of sperms with micro-TESE.en_US
dc.identifier.doi10.4103/0970-258X.261196
dc.identifier.endpage278en_US
dc.identifier.issn0970-258X
dc.identifier.issue5en_US
dc.identifier.pmid31267991en_US
dc.identifier.scopus2-s2.0-85068601020en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage274en_US
dc.identifier.urihttps://doi.org/10.4103/0970-258X.261196
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16214
dc.identifier.volume31en_US
dc.identifier.wosWOS:000473690700004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAll India Inst Medical Sciencesen_US
dc.relation.ispartofNational Medical Journal Of Indiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleEvaluation of sexual function and micro-testicular sperm extraction in men with mosaic Turner syndromeen_US
dc.typeArticleen_US

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