Predictors of spontaneous puberty and premature ovarian insufficiency in girls with Turner syndrome
Turchinets A.I., Uvarova E.V., Kumykova Z.Kh., Mamedova F.Sh.
Background: Turner syndrome is one of the most common sex chromosome abnormalities associated with premature ovarian insufficiency. Phenotypic manifestations often do not correlate with the karyotype of Turner syndrome; 20% of girls exhibit timely sexual development, and 5–10% experience spontaneous menstruation. Therefore, identifying significant predictors of preserved ovarian function in this cohort of patients is essential.
Objective: To investigate the prognostic markers of spontaneous puberty and premature ovarian insufficiency in girls with Turner syndrome, focusing on age and karyotype.
Materials and methods: This retrospective study included 122 girls with Turner syndrome, aged 9–17 years, who were observed in the 2nd Gynecological Department of V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia. Patients were divided into groups based on age and karyotype variants, with subsequent rankings according to the preservation of ovarian function. Clinical and medical history data, serum hormone levels, and ultrasound findings of the gonads and mammary glands were also assessed.
Results: Spontaneous puberty was observed in 49% of the patients, with 11% experiencing menarche at a mean age of 12.62 (0.37) years; however, 41% displayed no signs of puberty. During the examination, premature ovarian insufficiency was diagnosed in 81% of the patients. No association was found between the absence of spontaneous sexual development and the set of chromosomes, including X monosomy; however, the risk of premature ovarian insufficiency was associated with ploidy of the X chromosome. The risk of detecting FSH levels greater than 25 IU/L had an inverse correlation with ovarian volume, increasing at a value of less than 1.29 cm³.
Conclusion: Despite the karyotype and characteristics of sexual development, ovarian reserve should be assessed in patients with Turner syndrome starting from prepubertal age. This assessment should consider the dynamics of blood hormone levels and ovarian volume measured using ultrasound, which serves as a valuable marker for the risk of ovarian insufficiency in this cohort of patients.
Authors’ contributions: Uvarova E.V., Turchinets A.I. – conception and design of the study, data analysis; Mamedova F.Sh., Kumykova Z.Kh. – data collection and processing; Turchinets A.I. – drafting of the manuscript; Uvarova E.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, Ministry of Health of Russia.
Patient Consent for Publication: All patients provided informed consent for the publication of their data.
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., Uvarova E.V., Kumykova Z.Kh., Mamedova F.Sh.
Predictors of spontaneous puberty and premature ovarian insufficiency in girls with Turner syndrome.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2024; (12): 86-93 (in Russian)
https://dx.doi.org/10.18565/aig.2024.239
Keywords
Turner syndrome
adolescent girls
ovarian reserve
premature ovarian insufficiency
spontaneous puberty
karyotype
mosaicism
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Received 22.09.2024
Accepted 28.11.2024
About the Authors
Anna I. Turchinets, PhD student, 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/0000-0002-4478-9133Elena 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
Zaira Kh. Kumykova, PhD, Senior Researcher at the Departament 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
Fatima Sh. Mamedova, PhD, Physician at the Department of Ultrasound Diagnostics of the Department of Neonatology and Pediatrics, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4; Teaching Assistant at the Department of Radiation Diagnostics of Pediatric Age, RMACPE,
Ministry of Health of Russia, f_mamedova@oparina4.ru, https://orcid.org/0000-0003-1136-7222
Corresponding author: Anna I. Turchinets, Ponomarevaanna28@gmail.com
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