A rare case of growth hormone deficiency in a boy with Klinefelter syndrome. Diagnostic and therapeutic challenges: A case report

Authors

  • Berkan Beyti Medical University of Varna Author
  • Viktor Radev Medical University of Varna Author
  • Teodora Karamfilova Medical University of Varna Author
  • Violeta Iotova Medical University of Varna Author

DOI:

https://doi.org/10.14748/w2wkn140

Keywords:

Klinefelter syndrome, growth hormone deficiency, short stature, growth hormone treatment, case report

Abstract

Introduction: Klinefelter syndrome (KS) is the most common sex chromosome disorder in males, typically associated with tall stature in adolescence, hypergonadotropic hypogonadism, and cognitive or behavioral difficulties. Growth hormone deficiency (GHD) is rare in KS and may mask or alter expected phenotypic features.

Patient Presentation: We report a boy of 7 years and 8 months presenting with persistent short stature, selective eating habits, and mild neurodevelopmental delays. Initial evaluation revealed subtle dysmorphic features, cryptorchidism, and delayed bone age. Karyotype analysis confirmed KS (47,XXY). Two consecutive GH stimulation tests demonstrated isolated GHD (peak GH 6.92 ng/mL), and pituitary MRI was normal. The patient was initiated on recombinant human GH therapy, first daily, and later long-acting GH was administered, resulting in sustained catch-up growth over 12 months of follow-up without any adverse effects. Height improved from below the 3rd percentile to the 10th percentile, with favorable changes in growth velocity and IGF-1 levels.

Conclusion: This report highlights the importance of considering karyotyping not only in girls but also in boys with persistent, unexplained short stature, as coexisting disorders such as KS and isolated GHD may obscure typical clinical features. Without routine cytogenetic testing, numerical abnormalities of sex chromosomes can remain undiagnosed, delaying appropriate care. Timely diagnosis and multidisciplinary management are essential to optimize growth and long-term outcomes.

Author Biographies

  • Berkan Beyti, Medical University of Varna

    Faculty of Medicine

  • Viktor Radev, Medical University of Varna

    Faculty of Medicine

  • Teodora Karamfilova, Medical University of Varna

    Department of Pediatrics, Faculty of Medicine;

    First Pediatric Clinic with NICU, St. Marina University Hospital

  • Violeta Iotova, Medical University of Varna

    Department of Pediatrics, Faculty of Medicine;

    First Pediatric Clinic with NICU, St. Marina University Hospital

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Published

2026-01-22

Data Availability Statement

The data that support the findings of this study are available from the corresponding author, [B.B.], upon reasonable request.

Issue

Vol. 58 No. 1 (2026)

Section

Case Reports

How to Cite

A rare case of growth hormone deficiency in a boy with Klinefelter syndrome. Diagnostic and therapeutic challenges: A case report. (2026). Scripta Scientifica Medica, 58(1), 64-70. https://doi.org/10.14748/w2wkn140

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