ESPE Abstracts

Klinefelter Syndrome (KS), marked by an extra X chromosome (47, XXY karyotype), is the most prevalent sex chromosome disorder in males, appearing in about 0.2% of male births. [1] We present a rare case of Klinefelter Syndrome (KS) characterized by an atypical short stature and growth hormone deficiency Case presentation: 16-year-old male with Klinefelter Syndrome (47, XXY karyotype) presented for evaluation due to significant developmental delays and an unusually short stature. He exhibited sparse body hair, eunuchoid proportions, and small testicular volume, suggestive of primary hypogonadism. Hormonal tests showed low testosterone levels and abnormal gonadotropin levels, confirming testicular failure. An ultrasound confirmed testicular hypoplasia, and wrist X-ray indicated a delayed bone age of 14.5 years despite his chronological age of 16. The patient’s height is 149 cm (SDS -3.34), indicating severe stunting. The weight is 37 kg (SDS 2.57), suggesting that his weight is disproportionately high for his height. The BMI is 16.67 kg/m², which is considered low. The target height of 168.5 cm (SDS -2.35), emphasizing the discrepancy between his current height and genetic potential. A growth hormone (GH) stimulation test with insulin indicated growth hormone deficiency, leading to a diagnosis that influenced the management strategy. MRI findings: No abnormalities detected in the pituitary-hypothalamic region. Intervention involved growth hormone therapy to improve physical development and help achieve a height closer to the norm for his age. The treatment plan also included educational and psychological support to address his learning challenges and enhance social skills. Ongoing Management includes regular monitoring of growth velocity, hormonal levels, and control of IGF-1 to tailor treatment adjustments. The regimen is complemented by annual testicular ultrasounds and biennial bone density scans to evaluate the long-term effects of the therapy and manage any complications associated with Klinefelter Syndrome. This case highlights the importance of personalized, multidisciplinary care for managing Klinefelter Syndrome with unique presentations such as unusual short stature and growth hormone deficiency. Tailored treatment and continuous monitoring are crucial for enhancing the patient’s long-term health outcomes.