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

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.

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).

All 5 men had a mosaic 45,X/46,XY genotype and the sex-determining region (SRY) was positive in DYZ1- negative 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©) 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.

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.