Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio

Climacteric 2026

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Authors: Yun Cheng, Hsin-Hsin Cheng, Chen‐Hao Lee, Kun-Long Huang, Yu‐Ju Lin, Te-Yao Hsu, Kuo‐Chung Lan
DOI: 10.1080/13697137.2026.2631499
Cited by: 0
References: 50

Abstract

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

Fields of Study & Subjects

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Sexual Differentiation and Disorders Reproductive Biology and Fertility

Publication details

Journal / source
Climacteric
Volume
29
Issue
3
Pages
455–461
Publication date
10 March 2026
Language
EN