Endocrine Abstracts

JOINT2468

Introduction and aim: Silver-Russell Syndrome (SRS) and Temple Syndrome (TS) are characterized by severe intrauterine growth retardation (IUGR), making them relevant models within the Developmental Origins of Health and Disease (DOHaD) framework. This concept suggests that fetal programming influences the risk of developing adult metabolic disorders. However, clinical data on metabolic abnormalities in paediatric patients with SRS and TS remain scarce. This study aims to describe metabolic complications in a longitudinal cohort of children and adolescents followed at a specialized reference center for the management of SRS and/or TS.

Methods: A retrospective analysis of longitudinal data was conducted on 33 patients with molecularly confirmed diagnoses (31 SRS, 1 TS, 1 SRS/TS). Data were collected at pre-pubertal age, pubertal age, and one year after discontinuation of growth hormone (GH) therapy. Metabolic parameters assessed included overweight/obesity, arterial hypertension, and glucose/insulin regulation abnormalities.

Results: The cohort included 33 patients and consisted of 19 boys (58%). At the pre-pubertal stage (median age: 8.3 years), metabolic abnormalities were already present in 5/33 children (15%), despite a median BMI (Body Mass Index) of -1.4 SD [-2.0; -0.9]. At pubertal age (median age: 15.2 years), 8/33 patients (24%) had at least one metabolic abnormality, while 3/33 (9%) had two, despite a median BMI remaining below average (-1.0 SD [-1.5; 0.3]). Glucose dysregulation was the most frequent and early complication, with one case of type 2 diabetes mellitus (T2DM) identified in the pre-pubertal stage and three cases (T2DM, glucose intolerance, and severe insulin resistance requiring metformin) at pubertal age. At pubertal age, 5 patients had arterial hypertension or a blood pressure > 95th percentile, one patient was obese and 2 were overweight. Follow-up one year after GH therapy discontinuation confirmed these findings in the 9 patients still receiving GH at pubertal age.

Conclusion: Despite the small cohort size, this study highlights that children with SRS and/or TS develop metabolic complications from early childhood, even under specialized follow-up. These abnormalities appear to become more frequent during adolescence but seem independent of GH treatment and excess weight (overweight/obesity).