ESPE Abstracts

Background: Growth disorders in children often present a multifactorial challenge involving genetics, nutrition, and endocrine function. This case report focuses on a young girl with growth retardation linked to a homozygous pathogenic variant in the PAPPA2 gene, encoding pregnancy-associated plasma protein-A2 (PAPP-A2), a key regulator in the insulin-like growth factor 1 (IGF-I) axis.

Case Presentation: A 5-year-old girl of Yemeni descent, born preterm at 35 weeks with intrauterine growth restriction (IUGR), presented with failure to thrive and short stature. Initial measurements were significantly below the mean for her gestational age. Despite normal metabolic, immunological, and gastrointestinal function tests, her growth remained stunted. Genetic analysis revealed a homozygous pathogenic variant in the PAPPA2 gene. Nutritional interventions, including a high-calorie, high-protein diet, intermittently improved growth metrics. However, the cessation of this diet led to a decline in growth velocity, which was later restored with oral nutritional supplementation.

Results: The patient experienced marked fluctuations in weight and height standard deviation scores (SDS) and growth velocity (GV) over time. Nutritional intervention through nasogastric tube (NGT) feeding and later oral supplements led to improvements in growth parameters and IGF-1 levels.

Discussion: This case highlights the critical role of PAPP-A2 in growth regulation and the impact of nutritional interventions in managing growth retardation. The patient's growth trajectory, influenced by enhanced nutrition, provides insights into the management of similar genetic growth disorders. The case underscores the complexity of treating growth disorders and the importance of considering both genetic and nutritional factors in pediatric endocrinology.

Conclusion: The case illustrates the importance of a comprehensive approach in managing growth retardation, considering both genetic background and nutritional interventions. It contributes to the growing understanding of PAPPA2-related growth disorders and the potential of nutritional therapy in such cases.