Turner-Shereshevsky syndrome. Selection of hormone replacement therapy
DOI: 10.32364/2618-8430-2026-9-1-5
P.A. Kuznetsov1, A.V. Vitebskaya2, A.A. Bykovskaya1, I.B. Kecherukova1, A.E. Alisultanov1
1Pirogov Russian National Research Medical University, Moscow, Russian Federation
2I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russian Federation
Congenital genetic disorders rank among the most challenging conditions in terms of timely diagnosis, effective treatment, management of impaired quality of life, and facilitation of social integration. Turner — Shereshevsky syndrome (Turner syndrome, TS) is one such disorder. Optimization of hormonal status in TS requires a deep understanding of the pathogenetic mechanisms underlying the disease and the resulting endocrine deficiencies. Long-term hormone replacement therapy (HRT) with sex steroids and growth hormone constitutes a cornerstone of management in female patients with TS. Careful replication of physiological endogenous hormone levels at each stage of development allows to offset growth retardation, hypergonadotropic hypogonadism, and the associated anatomical and physiological abnormalities characteristic of this condition. HRT with recombinant human growth hormone over 5–7 years during the prepubertal period, at initial doses of 45–50 µg/kg/day, followed in puberty by gradually increasing doses of estradiol preparations and subsequent addition of a progestin component, enables realization of growth potential, induction of pubertal development, and achievement of physiological estrogen levels in patients with partial or complete loss of one of the sex chromosomes.
Keywords: Turner-Shereshevsky syndrome, Turner syndrome, hormone replacement therapy, recombinant human growth hormone, oxandrolone, estrogen, progesterone.
For citation: Kuznetsov P.A., Vitebskaya A.V., Bykovskaya A.A., Kecherukova I.B., Alisultanov A.E. Turner-Shereshevsky syndrome. Selection of hormone replacement therapy. Russian Journal of Woman and Child Health. 2026;9(1):37–43 (in Russ.). DOI: 10.32364/2618-8430-2026-9-1-5
About the authors:
Pavel A. Kuznetsov — C. Sc. (Med.), Associate Professor of the Department of Obstetrics and Gynecology, Pirogov Russian National Research Medical University; 1 build. 6, Ostrovityanov str., Moscow, 117997, Russian Federation; ORCID iD 0000-0003-2492-3910
Alisa V. Vitebskaya — C. Sc. (Med.), Associate Professor of the Department of Pediatric Diseases, N.F. Filatov Clinical Institute of Children's Health, I.M. Sechenov First Moscow State Medical University (Sechenov University); 8 build. 2, Trubetskaya str., Moscow, 119991, Russian Federation; ORCID iD 0000-0001-5689-0194
Anastasia A. Bykovskaya — student of the Faculty of Medicine, Pirogov Russian National Research Medical University; 1 build. 6, Ostrovityanov str., Moscow, 117997, Russian Federation; ORCID iD 0009-0009-1570-7846
Isabel B. Kecherukova — student of the Faculty of Medicine, Pirogov Russian National Research Medical University; 1 build. 6, Ostrovityanov str., Moscow, 117997, Russian Federation; ORCID iD 0000-0002-6650-6456
Alimurad E. Alisultanov — student of the Faculty of Medicine, Pirogov Russian National Research Medical University; 1 build. 6, Ostrovityanov str., Moscow, 117997, Russian Federation; ORCID iD 0000-0002-1401-1494
Contact information: Pavel A. Kuznetsov, e-mail: poohsmith@mail.ru
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 13.01.2025.
Revised 05.02.2025.
Accepted 28.02.2025.
2. Martin-Giacalone B.A., Lin A.E., Rasmussen S.A. et al. Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network. Am J Med Genet A. 2023;191(5):1339–1349. DOI: 10.1002/ajmg.a.63181
3. Кумыкова З.Х., Батырова З.К. Возможности сохранения и реализации репродуктивной функции у девочек с синдромом Тернера (аналитический обзор). Гинекология. 2018;20(5):56–58. DOI: 10.26442/2079-5696_2018.5.56-58Kumykova Z.Kh., Batyrova Z.K. Possibilities of preservation and realization of reproductive function in girls with Turner syndrome (analytical review). Gynecology. 2018;20(5):56–58 (in Russ.). DOI: 10.26442/2079-5696_2018.5.56-58
4. Lin A.E., Prakash S.K., Andersen N.H. et al. Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years. Am J Med Genet A. 2019;179(10):1987–2033. DOI: 10.1002/ajmg.a.61310
5. Fukami M. Ovarian dysfunction in women with Turner syndrome. Front Endocrinol (Lausanne). 2023;14:1160258. DOI: 10.3389/fendo.2023.1160258
6. Dowlut-McElroy T., Shankar R.K. The Care of Adolescents and Young Adults with Turner Syndrome: A Pediatric and Adolescent Gynecology Perspective. J Pediatr Adolesc Gynecol. 2022;35(4):429–434. DOI: 10.1016/j.jpag.2022.02.002
7. Fiot E., Alauze B., Donadille B. et al. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). Orphanet J Rare Dis. 2022;17(Suppl 1):261. DOI: 10.1186/s13023-022-02423-5
8. Dabrowski E., Jensen R., Johnson E.K. et al. Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype. Horm Res Paediatr. 2019;92(3):143–149. DOI: 10.1159/000502902
9. Lunding S.A., Aksglaede L., Anderson R.A. et al. AMH as Predictor of Premature Ovarian Insufficiency: A Longitudinal Study of 120 Turner Syndrome Patients. J Clin Endocrinol Metab. 2015;100(7):E1030–1038. DOI: 10.1210/jc.2015-1621
10. Варламова Т.В., Уквальберг М.Е. Опыт ведения пациенток с синдромом Тернера. Репродуктивное здоровье детей и подростков. 2024;2(103):119–120.Varlamova T.V., Ukvalberg M.E. Experience in managing patients with Turner syndrome. Pediatric and Adolescent Reproductive Health. 2024;20(103):119–120 (in Russ.).
11. Yang S. Diagnostic and therapeutic considerations in Turner syndrome. Ann Pediatr Endocrinol Metab. 2017;22(4):226–230. DOI: 10.6065/apem.2017.22.4.226
12. Hasegawa Y., Hasegawa T., Satoh M. et al. Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy. Front Endocrinol (Lausanne). 2023;14:1051695. DOI: 10.3389/fendo.2023.1051695
13. Kwon A., Hyun S.E., Jung M.K. et al. Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. Horn Cancer. 2017;8(3):166–173. DOI: 10.1007/s12672-017-0291-8
14. Курьянова Ю.Н., Уварова Е.В., Коган Е.А. Комплексное молекулярно-генетическое обследование пациенток с синдромом Тернера. Репродуктивное здоровье детей и подростков. 2019;15(1):51–66. DOI: 10.24411/1816-2134-2019-11007Kuryanova Yu.N., Uvarova E.V., Kogan E.A. Complex molecular genetic examinations of patients with Turner syndrome. Pediatric and Adolescent Reproductive Health. 2019;15(1):51–66 (in Russ.). DOI: 10.24411/1816-2134-2019-11007
15. Aso K., Koto S., Higuchi A. et al. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocr J. 2010;57(10):909–913. DOI: 10.1507/endocrj.k10e-092
16. Donaldson M., Kriström B., Ankarberg-Lindgren C. et al.; on behalf of the European Society for Paediatric Endocrinology Turner Syndrome Working Group. Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy. Horm Res Paediatr. 2019;91(3):153–163. DOI: 10.1159/000500050
17. Klein K.O., Rosenfield R.L., Santen R.J. et al. Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations. J Clin Endocrinol Metab. 2018;103(5):1790–1803. DOI: 10.1210/jc.2017-02183
18. Дедов И.И., Безлепкина О.Б., Панкратова М.С. и др. Гормон роста — 30 лет клинической практики: прошлое, настоящее, будущее. Проблемы Эндокринологии. 2024;70(1):4–12. DOI: 10.14341/probl13432Dedov I.I., Bezlepkina O.B., Pankratova M.S. et al. Growth hormone — 30 years of clinical practice: past, present, future. Problems of Endocrinology. 2024;70(1):4–12 (in Russ.). DOI: 10.14341/probl13432
19. Дедов И.И., Петеркова В.А. Федеральные клинические рекомендации (протоколы) по ведению детей с эндокринными заболеваниями. М.: Практика; 2014.Dedov I.I., Peterkova V.A. Federal clinical guidelines (protocols) for the management of children with endocrine diseases. M.: Praktika; 2014 (in Russ.).
20. Tanaka T. Perspectives on growth promoting treatment for patients with Turner syndrome in Japan. Clin Pediatr Endocrinol. 2020;29(3):91–97. DOI: 10.1297/cpe.29.91
21. Шандин А.Н., Петеркова В.А. Классификация, диагностика и лечение идиопатической низкорослости. Проблемы Эндокринологии. 2009;55(4):36–44. DOI: 10.14341/probl200955436-44Shandin A.N., Peterkova V.A. Classification, diagnosis, and treatment of idiopathic short stature. Problems of Endocrinology. 2009;55(4):36–44 (in Russ.). DOI: 10.14341/probl200955436-44
22. Menke L.A., Sas T.C., De Muinck Keizer-Schrama S.M. et al. Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome. J Clin Endocrinol Metab. 2010;95(3):1151–1160. DOI: 10.1210/jc.2009-1821
23. Kriström B., Ankarberg-Lindgren C., Barrenäs M.L. et al. Normalization of puberty and adult height in girls with Turner syndrome: results of the Swedish Growth Hormone trials initiating transition into adulthood. Front Endocrinol (Lausanne). 2023;14:1197897. DOI: 10.3389/fendo.2023.1197897
24. Ankarberg-Lindgren C., Gawlik A., Kriström B. et al. Estradiol matrix patches for pubertal induction: stability of cut pieces at different temperatures. Endocr Connect. 2019;8(4):360–366. DOI: 10.1530/EC-19-0025
25. Isojima T., Yokoya S. Growth in girls with Turner syndrome. Front Endocrinol (Lausanne). 2023;13:1068128. DOI: 10.3389/fendo.2022.1068128
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