Annals of Internal Medicine: Clinical Cases (Jan 2025)
Hypothalamic Hamartoma–Associated Central Precocious Puberty in a Young Boy: A Case Study
Abstract
Hypothalamic hamartoma is a congenital malformation diagnosed via magnetic resonance imaging and histology, and it often is linked to central precocious puberty (CPP), gelastic seizures, and intellectual disabilities. This case report describes a 9-year-old boy with CPP attributable to hypothalamic hamartoma, a rare benign brain tumor. The boy exhibited advanced secondary sexual characteristics and rapid height increase. Elevated testosterone and a gonadotropin-releasing hormone stimulation test confirmed CPP, whereas magnetic resonance imaging was used to identify a nonenhancing lesion in the posterior hypothalamus. Monthly gonadotropin-releasing hormone analogue leuprorelin acetate injections effectively treated CPP. This case underscores the importance of early CPP diagnosis and treatment, especially given the rarity of hypothalamic hamartoma in boys.