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Journals / Çocuk Dergisi / 2025 / Cilt: 25 Sayı: 4

Small Head Circumference and Height above Target Height as Potential Early Clues for Klinefelter Syndrome: A Retrospective Cohort Study

Aslı Derya Kardelen(ISTANBUL UNIVERSITY)0000-0003-0594-8741
Deniz Özbay Öner(ISTANBUL UNIVERSITY)0000-0003-2649-1226
Özge Bayrak Demirel(ISTANBUL UNIVERSITY)0000-0001-7780-0231
Nur Mine Şükür(ISTANBUL UNIVERSITY)0000-0003-2769-0526
Melek Yıldız(ISTANBUL UNIVERSITY)0000-0002-6603-2983
Şükran Poyrazoğlu(ISTANBUL UNIVERSITY)0000-0001-6806-9678
Ayça Dilruba Aslanger(ISTANBUL UNIVERSITY)0000-0003-1770-1762
Tugba Kalayci(ISTANBUL UNIVERSITY)0000-0002-9963-5916
Güven Toksoy(ISTANBUL UNIVERSITY)0000-0002-8103-9980
Birsen Karaman(ISTANBUL UNIVERSITY)0000-0001-8640-0176
Firdevs Baş(ISTANBUL UNIVERSITY)0000-0001-9689-4464
Feyza Darendeliler(ISTANBUL UNIVERSITY)0000-0003-4786-0780
Pages
285–289
Publication Date
2026-02-12
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In children taller than the target height with long legs and small HC, KS should be considered.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Background: Klinefelter syndrome (KS) is often underdiagnosed in childhood due to subtle phenotypic features.
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Key Findings & Data: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.
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Conclusion & Impact:In children taller than the target height with long legs and small HC, KS should be considered.
🔬Design:Araştırma Makalesi
📍Scope:Comprehensive Sample
⚙️Variables:Anthropometry · Auxology · Body proportions

Abstract

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. At the 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 taller than the target height with long legs and small HC, KS should be considered.

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Cite This Article

Kardelen, A. D., Öner, D. Ö., Demirel, Ö. B., Şükür, N. M., Yıldız, M., Poyrazoğlu, Ş., Aslanger, A. D., Kalayci, T., Toksoy, G., Karaman, B., Baş, F., Darendeliler, F. (2026). Small Head Circumference and Height above Target Height as Potential Early Clues for Klinefelter Syndrome: A Retrospective Cohort Study. Çocuk Dergisi, Cilt: 25 Sayı: 4, 285–289. https://doi.org/10.26650/jchild.2025.1785193

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