PMID- 31267991
OWN - NLM
STAT- MEDLINE
DCOM- 20191014
LR  - 20191014
IS  - 2583-150X (Electronic)
IS  - 0970-258X (Linking)
VI  - 31
IP  - 5
DP  - 2018 Sep-Oct
TI  - Evaluation of sexual function and micro- testicular sperm extraction in men with 
      mosaic Turner syndrome.
PG  - 274-278
LID - 10.4103/0970-258X.261196 [doi]
AB  - BACKGROUND: 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 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(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.
FAU - Salvarci, Ahmet
AU  - Salvarci A
AD  - Department of Urology, Novafertil IVF Center, Meram Yeni Yol No. 75, Meram, 42090 
      Konya, Turkey.
FAU - Zamani, Aysegul
AU  - Zamani A
AD  - Department of Medical Genetics, Necmettin Erbakan University, Meram, 42060 Konya, 
      Turkey.
LA  - eng
PT  - Journal Article
PL  - India
TA  - Natl Med J India
JT  - The National medical journal of India
JID - 8809315
RN  - 0 (Sex-Determining Region Y Protein)
SB  - IM
MH  - Adult
MH  - Azoospermia/*diagnosis/genetics/therapy
MH  - Chromosomes, Human, Y/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping/*methods
MH  - Male
MH  - *Mosaicism
MH  - Semen Analysis
MH  - Sex-Determining Region Y Protein/genetics
MH  - Sperm Injections, Intracytoplasmic
MH  - *Sperm Retrieval
MH  - Testis
MH  - Treatment Outcome
MH  - Turner Syndrome/*complications/genetics
MH  - Young Adult
COIS- None
EDAT- 2019/07/04 06:00
MHDA- 2019/10/15 06:00
CRDT- 2019/07/04 06:00
PHST- 2019/07/04 06:00 [entrez]
PHST- 2019/07/04 06:00 [pubmed]
PHST- 2019/10/15 06:00 [medline]
AID - NatlMedJIndia_2018_31_5_274_261196 [pii]
AID - 10.4103/0970-258X.261196 [doi]
PST - ppublish
SO  - Natl Med J India. 2018 Sep-Oct;31(5):274-278. doi: 10.4103/0970-258X.261196.