Endocrine Abstracts

JOINT3565

Introduction: Growth hormone deficiency (GHD) is a pediatric endocrine disorder characterized by insufficient growth hormone production, leading to impaired growth. It can be congenital or acquired, with an estimated prevalence of 1 in 4,000 to 10,000 live births. Diagnosis involves clinical history, growth analysis, biochemical tests, and neuroimaging.

Case Series: The information of 9 cases with GHD was analyzed. Of these, 77.8% were male, with an average age of 11.4 years (7-15) and an average age at deficiency diagnosis of 9.44 years (5-14). A history of short stature was present in 55.4% of these patients, and somatometric evaluation identified an average familial target height of 167.7 cm (158-174) and a height at diagnosis with an average deviation of 11.1 cm below their genetic growth channel (4-19). Only 3 patients (33.3%) had undergone well-child check-ups for at least the first 12 months of life. The diagnosis was made through the measurement of somatomedin (IGF-1), which had an average value of 101.9 ng/ml (25-262). Brain magnetic resonance imaging (MRI) was performed in 7 patients (77.8%), and of these, only 2 cases (28.6%) showed anatomical abnormalities possibly related to growth hormone deficiency. In one case, an arachnoid cyst of the pituitary gland was observed, while in the other, a Rathke’s cleft cyst was identified. All patients received treatment with recombinant human growth hormone (r-hGH) at an average weight-based dose of 1.22 IU/kg/week (0.77-1.85), with good adherence to treatment. At their last follow-up visit, their average height was 133.4 cm (109-151).

Discussion: This case series analyzes the clinical features, diagnostic methods, and treatment outcomes in pediatric patients with GHD, emphasizing the heterogeneity of its presentation. Neuroimaging was crucial in identifying structural pituitary abnormalities in some cases, while family history and classic clinical presentations enabled earlier diagnosis in others. Treatment with r-hGH showed positive outcomes in growth velocity and predicted adult height. Variability in treatment response based on the underlying cause of GHD pointing out the need for individualized approaches.

Final Comments: This study highlights the importance of a multidisciplinary, personalized approach to meet each patient’s needs and provides insights into the challenges of managing GHD, paving the way for future research to optimize its diagnosis and treatment.