Climacteric : the journal of the International Menopause Society · 2026
Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Cheng Yun, Cheng Hsin-Hsin, Lee Chen-Hao, Huang Kun-Long, Lin Yu-Ju, Hsu Te-Yao, Lan Kuo-Chung
Аннотация
OBJECTIVE: This study aimed to evaluate reproductive potential in women with Turner syndrome (TS), focusing on 45,X/46,XX mosaicism and the impact of mosaic ratio on reproductive outcomes.
METHOD: The study retrospectively analyzed 145 TS patients diagnosed postnatally by peripheral blood karyotyping from January 1990 to May 2023. Karyotypes were categorized into 45,X monosomy, 45,X mosaicism with Y chromosome and 45,X mosaicism without Y chromosome.
RESULTS: The predominant karyotype was 45,X/46,XX mosaicism (71.0%), accounting for most cases with preserved reproductive potential. Within this subgroup, spontaneous menarche (SM) occurred in 97.7% of cases with <40% 45,X cells, while 84.2% of pregnancies occurred in those with <10% 45,X cells. Among patients aged ≥15 years with mosaic karyotypes containing 46,XX and no structural abnormalities, SM occurred in 95.3% of those with <40% 45,X cells, but in none with ≥40% (p < 0.001). In contrast, cases of 45,X monosomy, Y-containing mosaicism, structural X abnormalities, 45,X/46,X with marker chromosomes or 45,X/47,XXX showed no pregnancies and minimal SM. Recurrent pregnancy loss (RPL) was the diagnostic indication in 34% of cases, likely enriching milder mosaicism.
CONCLUSIONS: Women with 45,X/46,XX mosaicism retain reproductive potential, particularly when 45,X cell ratios are low. Early diagnosis via peripheral blood karyotyping supports timely fertility counseling and ovarian care.
METHOD: The study retrospectively analyzed 145 TS patients diagnosed postnatally by peripheral blood karyotyping from January 1990 to May 2023. Karyotypes were categorized into 45,X monosomy, 45,X mosaicism with Y chromosome and 45,X mosaicism without Y chromosome.
RESULTS: The predominant karyotype was 45,X/46,XX mosaicism (71.0%), accounting for most cases with preserved reproductive potential. Within this subgroup, spontaneous menarche (SM) occurred in 97.7% of cases with <40% 45,X cells, while 84.2% of pregnancies occurred in those with <10% 45,X cells. Among patients aged ≥15 years with mosaic karyotypes containing 46,XX and no structural abnormalities, SM occurred in 95.3% of those with <40% 45,X cells, but in none with ≥40% (p < 0.001). In contrast, cases of 45,X monosomy, Y-containing mosaicism, structural X abnormalities, 45,X/46,X with marker chromosomes or 45,X/47,XXX showed no pregnancies and minimal SM. Recurrent pregnancy loss (RPL) was the diagnostic indication in 34% of cases, likely enriching milder mosaicism.
CONCLUSIONS: Women with 45,X/46,XX mosaicism retain reproductive potential, particularly when 45,X cell ratios are low. Early diagnosis via peripheral blood karyotyping supports timely fertility counseling and ovarian care.