ESPE Abstracts

Introduction: Turner syndrome (TS) is a genetic disorder characterized by the partial or total absence of an X chromosome. It is the most frequent sex chromosome abnormality in females (1). Patients with TS are susceptible to a variety of metabolic abnormalities. Puberty is a sensitive phase of both physical and hormonal development, and its timing can impact the development of metabolic syndrome. This study aims to clarify the impact of the onset of puberty on the occurrence of metabolic syndrome in patients with Turner syndrome.

Materials and Methods: A retrospective descriptive study including 23 patients diagnosed with turner syndrome and treated in our University Hospital Center between 2015 and 2024. Patients were grouped according to pubertal stage: prepubertal, normal onset of puberty and delayed puberty. Extensive evaluations of anthropometric measurements, blood pressure reading, lipid profiles, fasting blood glucose, insulin levels were carried out. The development of puberty was evaluated by Tanner's classification. The prevalence of metabolic syndrome was assessed using the criteria established by the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III). The statistical analysis was performed by the software SPSS version 21.

Results: The mean age at diagnosis was 16 ±12 years, 47% of the patients fulfilled the criteria for metabolic syndrome. The greatest prevalent of metabolic syndrome was seen in the delayed puberty group (43%), succeeded by the prepubertal group (25%) and the group with normal onset of puberty (17%). Abdominal obesity was found in 56% of the delayed puberty group, against 38% in the early puberty group and 20% in the normal puberty group. Moreover, elevated fasting blood glucose and dyslipidemia were more frequent in patients with delayed puberty, elevated triglycerides was found in 47% of cases and reduced HDL in 38% of patients. Hypertension was not found in any of the patients. There was a significant correlation between delayed puberty and the onset of metabolic syndrome (P < 0.05).

Discussion and Conclusion: The high incidence of metabolic syndrome in TS is linked to a mixture of genetic, hormonal and lifestyle factors (2). Metabolic syndrome has a notable association with delayed or absent pubertal development. This study highlights the importance of early diagnosis and prompt management of metabolic syndrome in individuals with Turner syndrome, particularly for those with delayed puberty. A multidisciplinary approach is crucial to ensure an optimal metabolic profile and prevent long-term cardiovascular and metabolic complications.