Association of clinical, laboratory, and morphological characteristics of the ovaries in girls with Turner syndrome and spontaneous puberty
Turchinets A.I., Badlaeva A.S., Uvarova E.V., Asaturova A.V., Kamaletdinov N.S., Kiseleva I.A., Kumykova Z.Kh., Gavisova A.A.
Objective: To present the characteristics of the ovarian reserve in girls with Turner syndrome based on morphological, clinical, laboratory, and instrumental parameters.
Materials and methods: A comparative morphological, morphometric, and immunohistochemical study of the ovarian cortex fragments was conducted in 20 girls. This group included 10 patients with Turner syndrome and spontaneous puberty, who exhibited no clinical or laboratory signs of premature ovarian insufficiency, and 10 girls with paraovarian cysts. The study examined the relationship between the morphological characteristics of the obtained samples and the stage of sexual development according to Tanner, ultrasound parameters of the ovaries, results of cytogenetic studies of blood lymphocytes, and hormonal status of girls with Turner syndrome.
Results: All girls with paraovarian cysts and 9 of 10 patients with Turner syndrome had follicles in the ovarian cortex, and abnormal morphology was observed in all girls with Turner syndrome and 80% in the control group. All follicles from patients with Turner syndrome expressed the oocyte-specific immunohistochemical markers ZP2, GDF9, BMP15, and CD117. Follicle density in Turner syndrome was 6.8 times lower than that in the control group and did not correlate with age, stage of puberty according to the Tanner scale, serum levels of FSH, LH, estradiol, AMH, inhibin B, testosterone, antral follicle count, or ovarian volume. However, this was associated with the presence of a 46,XX, or 47,XXX cell clone in the karyotype. Healthy follicles in the ovarian cortex were not detected in girls with Turner syndrome who had FSH and AMH levels > 15 IU/l and < 0.307 ng/ml, respectively. Among patients with X-chromosome mosaicism without structural anomalies, a positive correlation was found between follicle density and inhibin B level in the blood.
Conclusion: The prospects for performing the ovarian cortex cryopreservation procedure in girls with Turner syndrome may be determined by the combined presence of X-chromosome mosaicism without structural abnormalities, normal serum FSH levels for the corresponding age, inhibin B levels appropriate for the stage of sexual development according to Tanner, and detectable AMH levels.
Authors' contributions: Uvarova E.V., Asaturova A.V. – conception and design of the study; Badlaeva A.S., Turchinets A.I., Kamaletdinov N.S., Kiseleva I.A., Gavisova A.A. – collection and processing of material; Turchinets A.I., Badlaeva A.S. – data analysis; Badlaeva A.S., Turchinets A.I. – drafting of the manuscript; Uvarova E.V., Asaturova A.V., Kumykova Z.Kh. – editing
of the manuscript.
Conflicts of interest: The authors have no conflicts of interest to declare.
Funding: There was no funding for this study.
Ethical Approval: The study was reviewed and approved by the Research Ethics Committee of the V.I. Kulakov
NMRC for OG&P on October 22, 2022.
Patient Consent for Publication: The parents (legal representatives) of patients provided informed consent for the publication
of data and associated images.
Authors' Data Sharing Statement: The data supporting the findings of this study are available upon request from the corresponding author after approval from the principal investigator.
For citation: Turchinets A.I., Badlaeva A.S., Uvarova E.V., Asaturova A.V., Kamaletdinov N.S., Kiseleva I.A.,
Kumykova Z.Kh., Gavisova A.A. Association of clinical, laboratory, and morphological characteristics of
the ovaries in girls with Turner syndrome and spontaneous puberty.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (5): 97-109 (in Russian)
https://dx.doi.org/10.18565/aig.2025.42
Keywords
References
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Received 20.02.2025
Accepted 30.04.2025
About the Authors
Anna I. Turchinets, PhD student, Physician at the Department of Pediatric and Adolescent Gynecology, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia,117997, Russia, Moscow, Ac. Oparin str., 4, +7(926)522-87-39, Ponomarevaanna28@gmail.com, https://orcid.org/0000-0002-4478-9133
Alina S. Badlaeva, PhD, Senior Researcher at the 1st Pathology Department, Physician at the 1st Pathology Department, V.I. Kulakov NMRC for OG&P, Ministry of Health
of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, alinamagnaeva03@gmail.com, https://orcid.org/0000-0001-5223-9767
Elena V. Uvarovа, Corresponding Member of the Russian Academy of Sciences, Dr. Med. Sci., Professor at the Department of Obstetrics, Gynecology and Perinatology,
I.M. Sechenov First MSMU, Ministry of Health of Russia (Sechenov University); Head of the Department of Pediatric and Adolescent Gynecology, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, elena-uvarova@yandex.ru, https://orcid.org/0000-0002-3105-5640
Aleksandra V. Asaturova, Dr. Med. Sci., Head of the 1st Pathology Department, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow,
Ac. Oparin str., 4, a_asaturova@oparina4.ru, https://orcid.org/0000-0001-8739-5209
Nail S. Kamaletdinov, Embryologist at the 1st Gynecological Department, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow,
Ac. Oparin str., 4, sunsh86@mail.ru
Irina A. Kiseleva, PhD, Clinical Care Supervisor at the Department of Pediatric and Adolescent Gynecology, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, kiseleva_i@oparina4.ru
Zaira Kh. Kumykova, PhD, Senior Researcher at the Department of Pediatric and Adolescent Gynecology, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, zai-kumykova@yandex.ru, https://orcid.org/0000-0001-7511-1432
Alla A. Gavisova, Dr. Med. Sci., Head of the 1st Gynecological Department, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow,
Ac. Oparin str., 4, gavialla@yandex.ru
Corresponding author: Anna I. Turchinets, Ponomarevaanna28@gmail.com