ESPE Abstracts

Congenital hypothyroidism (CH) and hyperinsulinemic hypoglycemia represent two distinct yet interrelated metabolic disorders in pediatric endocrinology. We report a comprehensive case study of a 14-day-old female neonate presenting with persistent hypoglycemia since birth, despite initial management with thyroxine for suspected CH. The neonate exhibited classical clinical features of CH, including lethargy, puffy face, and umbilical hernia, alongside a pertinent family history of the condition. Diagnostic evaluation revealed elevated thyroid-stimulating hormone levels and low free thyroxine levels, confirming the diagnosis of CH. However, critical sample analysis unveiled hyperinsulinemic hypoglycemia, adding complexity to the clinical picture. Further investigations, including imaging studies, disclosed bilateral adrenal hemorrhages, prompting genetic testing revealed dual pathogenic genes ABCC8 responsible for hyperinsulinemic hypoglycemia and TSHR causing congenital nongoitrous hypothyroidism. Such combination of both genes is never reported in literature revealing consanguineous genetic makeup of Pakistan. contributing to various diseases in a single child. This case underscores the necessity of a comprehensive diagnostic approach in neonates with persistent hypoglycemia, emphasizing the importance of considering coexisting metabolic disorders. The intricate interplay between CH and hyperinsulinemic hypoglycemia underscores the need for a multidisciplinary care approach involving endocrinologists, geneticists, and neonatologists. Early recognition and tailored management strategies are imperative for optimizing outcomes in these challenging cases, necessitating ongoing surveillance and long-term follow-up to mitigate potential complications and ensure optimal growth and development.

Keywords: Congenital hypothyroidism, hyperinsulinemic hypoglycemia, autosomal recessive familial hyperinsulinemic hypoglycemia, neonate, case report