Endocrine and metabolic features of <i>PTEN</i> hamartoma tumor syndrome in childhood: a pediatric case series

OBJECTIVES: gene and is phenotypically variable, often presenting diagnostic challenges and systemic complications during childhood. CASE PRESENTATION: mutations. The clinical features included juvenile polyposis, hypoglycemia, growth hormone deficiency, juvenile papillomatosis, thyroid nodules, cerebral cavernoma, and insulin resistance. CONCLUSIONS: mutations, including abnormalities in glucose metabolism, growth axis, and neurodevelopment. Early diagnosis and multidisciplinary follow-up are essential to prevent potential complications.