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JOURNAL OF CHILD - COCUK DERGISI, vol.25, no.4, pp.285-289, 2025 (ESCI, TRDizin)
Background: Klinefelter syndrome (KS) is often underdiagnosed in childhood due to subtle phenotypic features. Aim: This study aimed to evaluate body measurements and proportions in patients with KS and explore the diagnostic value of auxological findings in early-life Methods: This retrospective observational cohort study included 16 patients with KS confirmed by lymphocyte karyotyping. Anthropometric measurements were performed by a single observer using standardized methods. Standard deviation scores (SDS) for height, weight, body mass index (BMI), head circumference (HC), sitting height (SH), and sitting height/height ratio (SHR) were calculated using national reference data. The leg proportions were evaluated using the Manouvrier's skelic index. Results: At presentation, all patients were prepubertal. The median age was 4.3 (0.1 to 12.7) years and the median SDS values for height, weight, BMI, and HC were-0.3, -0.8, -0.5, and-1.3, respectively. Tall stature was observed in 19% of patients and small HC in 25%. SH was normal, but SHR was low. Atthe final evaluation, the median age was 12 years (5.2-20.3), and the height was 0.6 SDS (1.6 to 2.0); 6% had a tall stature. The SHR improved, the arm span-height difference was normal, and the final height-target height difference was 1.6 SDS (1.1 to 3.1). Small HC persisted in 25%. Long legs were present in 37.5%. Conclusion: Although the height SDS was normal, the difference from the target height was significant. Small HC-a feature not previously reported in KS-was also frequent. In children tallerthan the target heightwith long legs and small HC, KS should be considered.