A clinical case of a mosaic variant of the Shereshevsky–Turner syndrome in combination with hyperandrogenism
Fetisova I.N., Smirnova A.V., Malyshkina A.I., Fetisov N.S.
Relevance: Mixed types of infertility in combination with genetic disorders are particularly difficult to diagnose and treat. The Shereshevsky–Turner syndrome (STS) is the most common chromosomal pathology with total or partial monosomy of chromosome.
Case report: A clinical case of a 38-year-old patient with mosaic variant of STS syndrome with karyotype 45,X[4]/46,X[16] in combination with hyperandrogenism represented. The patient underwent treatment using assisted reproductive technologies: three stimulation protocols, preimplantation genetic testing for aneuploidy, two cryotransfers of embryos with normal karyotype. Clinical pregnancy was not achieved. Current data on the diagnosis and treatment of patients with STS syndrome, possibilities of realization of reproductive function are represented. Based on the international experience, the risks of developing cardiovascular diseases and metabolic disorders in this category of patients were assessed.
Conclusion: The mosaic variant of STS often have no specific clinical symptoms specific for this syndrome, and therefore is diagnosed quite late. The peculiarity of this clinical case is the presence of combined chromosomal and endocrine pathology, pronounced ovarian hyperandrogenism with virilization of the genitals, as well as the presence of a male factor infertility in the married couple. In this regard, treatment of infertility in this case is very difficult.
Authors' contributions: Fetisova I.N., Smirnova A.V. – the concept and design of the study, article writing; Fetisova I.N., Smirnova A.V., Fetisov N.S. – material collection and processing; Malyshkina A.I. – article editing.
Conflicts of interest: The authors have no conflicts of interest to declare.
Funding: The article was conducted without any sponsorship.
Patient Consent for Publication: The patients provided an informed consent for the publication of their data.
For citation: Fetisova I.N., Smirnova A.V., Malyshkina A.I., Fetisov N.S. A clinical case of a mosaic variant of the Shereshevsky–Turner syndrome in combination with hyperandrogenism.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (2): 136-142 (in Russian)
https://dx.doi.org/10.18565/aig.2024.265
Keywords
the Shereshevsky–Turner syndrome
karyotype
mosaicism
gonadal dysgenesis
infertility
hyperandrogenism
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Received 22.10.2024
Accepted 26.11.2024
About the Authors
Irina N. Fetisova, Dr. Med. Sci., Professor, Professor at the Department of Obstetrics, Gynecology and Medical Genetics, Ivanovo State Medical University,Ministry of Health of Russia; Leading Researcher at the Laboratory of Clinical Biochemistry and Genetics, Ivanovo Scientific-Research Institute of Maternity and Childhood named after V.N. Gorodkov, Ministry of Health of Russia, 153045, Russia, Ivanovo, Victory str., 20, fet1sovairina@yandex.ru, https://orcid.org/0000-0002-5769-1645
Anastasia V. Smirnova, PhD, Associate Professor at the Department of Obstetrics, Gynecology and Medical Genetics, Ivanovo State Medical University, Ministry of Health
of Russia; gynecologist, Ivanovo Scientific-Research Institute of Maternity and Childhood named after V.N. Gorodkov, Ministry of Health of Russia, 153045, Russia, Ivanovo, Victory str., 20, +7(920)344-38-30, anguseva@yandex.ru, eLibrary SPIN: 1871-4605, https://orcid.org/0000-0002-6811-6830
Anna I. Malyshkina, Dr. Med. Sci., Professor, Director, Ivanovo Scientific-Research Institute of Maternity and Childhood named after V.N. Gorodkov, Ministry of Health
of Russia, 153045, Russia, Ivanovo, Victory str., 20; Head of the Department of Obstetrics, Gynecology and Medical Genetics, Ivanovo State Medical University,
Ministry of Health of Russia, anna_IM@mail.ru, https://orcid.org/0000-0002-1145-0563
Nikolai S. Fetisov, PhD, Researcher at the Laboratory of Clinical Biochemistry and Genetics, geneticist at the Department of Assisted Reproductive Technologies, Ivanovo Scientific-Research Institute of Maternity and Childhood named after V.N. Gorodkov, Ministry of Health of Russia, 153045, Russia, Ivanovo, Victory str., 20,
ivgenlab@gmail.com, https://orcid.org/0000-0002-6455-477Х
Corresponding author: Anastasia V. Smirnova, anguseva@yandex.ru
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