Clinical case of mosaic form of Shereshevsky – Turner syndrome in a child

The article presents the clinical and anamnestic characteristics and the results of laboratory and instrumental studies of an 8-year-old girl with a mosaic variant of Shereshevsky – Turner syndrome. The structure of the syndrome includes short stature and gonadal dysgenesis with developing hypergonadotropic hypogonadism. Early detection of chromosomal abnormalities allows timely initiation of effective symptomatic therapy, which contributes to timely prevention of complications, improvement of quality of life and functioning of internal organs.

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Publication Details

Journal
Journal of Volgograd State Medical University
Published
2025-06-08
DOI
https://doi.org/10.19163/1994-9480-2025-22-1-177-181
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
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article

Clinical case of mosaic form of Shereshevsky – Turner syndrome in a child

V. Sh. Sangadzhieva, A. A. Antonova, M. Ya Ledyaev, Elena I. Kashirskaya et al.
Journal of Volgograd State Medical University
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Clinical case of mosaic form of Shereshevsky – Turner syndrome in a child

V. Sh. Sangadzhieva, A. A. Antonova, M. Ya Ledyaev, Elena I. Kashirskaya, Raikhan M. Shukataeva
article en

Abstract

The article presents the clinical and anamnestic characteristics and the results of laboratory and instrumental studies of an 8-year-old girl with a mosaic variant of Shereshevsky – Turner syndrome. The structure of the syndrome includes short stature and gonadal dysgenesis with developing hypergonadotropic hypogonadism. Early detection of chromosomal abnormalities allows timely initiation of effective symptomatic therapy, which contributes to timely prevention of complications, improvement of quality of life and functioning of internal organs.

Journal of Volgograd State Medical UniversityVol. 22(1)
Volgograd State Medical University (RU), Astrakhan State Medical University (RU), 17th City Children's Clinical Polyclinic (BY)
Openalex Percentile: Top 85%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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