Endocrine Abstracts

JOINT2973

Introduction: Turner Syndrome (TS) is a partial or total monosomy of the X chromosome. It presents with multisystemic manifestations, including short stature, cardiac, nephrological conditions, and other endocrinometabolic disorders such as gonadal failure. Careful monitoring is required, with particular emphasis on pubertal development, bone health, and fertility. This study aimed to describe the pubertal development of adolescents with TS and the necessary therapeutic interventions. A retrospective, descriptive study of children and adolescents with TS followed at a tertiary hospital between 2010 and 2024. Data was collected from medical records.

Methods: 39 patients with TS were included. Three diagnosed prenatally, five in the neonatal period, and the remaining at a median age of 7. 6 years. They presented with different genotypes: 16 (41. 0%) had complete X chromosome monosomy, 14 (35. 9%) had mosaicism, and 9 (23. 1%) had other chromosomal abnormalities.

Results: Among the adolescents, 14 (37. 8%) developed spontaneous puberty with menarche at a median age of 12. 3 years (range: 11. 3-15. 7 years). Their median gonadotropin levels were 5. 4 mIU/mL and 4. 0 mIU/mL for FSH and LH. 23 adolescents (62. 2%) required hormone replacement therapy (HRT) with transdermal estrogens initiated at a median age of 12. 8 years (range: 11. 6-16. 3 years). Pre-treatment gonadotropin levels confirmed hypergonadotropic hypogonadism, with median FSH levels of 78. 1 mIU/mL and LH levels of 17. 4 mIU/mL. In this group, menarche occurred at a median age of 15. 0 years (range: 12. 6-18. 4 years), approximately 1. 3 years after initiating therapy. Anti-Müllerian hormone (AMH) levels were measured in 22 of the 37 patients, with a median of 0. 20 pmol/l (range: 0-25. 1 pmol/l). The spontaneous menarche group had a median AMH of 6. 32 pmol/l, while the induced puberty group had 0. 15 pmol/l. Thirteen patients (35%) were referred for fertility counseling, and 3 underwent oocyte cryopreservation. Two patients, still under the age of 10, have not yet begun puberty but are under close follow-up.

Discussion: The results emphasize the genotypic and phenotypic diversity of TS, highlighting the need for personalized monitoring and intervention. Hormone replacement therapy is vital for inducing pubertal development and optimizing bone mass in patients with hypergonadotropic hypogonadism due to gonadal dysgenesis. A significant number of patients experienced spontaneous puberty, and about one-third were referred for fertility preservation. Oocyte cryopreservation, though rare, offers a reproductive option for some of these young women.