Risk factors for intracranial lesions in males with central precocious puberty include neurological symptomsNew Research Identifies Genetic Links in Central Precocious Puberty

BackgroundCentral precocious puberty (CPP) in males results from the premature activation of the hypothalamic–pituitary–gonadal (HPG) axis, clinically diagnosed by a testicular volume >4 mL before the age of 9 years. Over the past two decades, a clear secular trend toward earlier pubertal onset has been reported. Historically, CPP in boys was strongly associated with intracranial lesions, observed in 40–50% of cases.Recent findingsOver the last decade, converging evidence has indicated a markedly lower prevalence of brain lesions in males with CPP, approximately 6–8%. Identified risk factors for intracranial lesions include neurological symptoms, pubertal onset before 8 years, and maternal age at menarche above 11 years. These data support a more selective, risk-based approach to neuroimaging and highlight the need to re-define a new consensus, recently published. Idiopathic CPP represents the majority of cases also in males, with increasing evidence supporting a strong genetic basis. Key mutations include gain-of-function variants in KISS1 and KISS1R, as well as loss-of-function mutations in MKRN3 and DLK1. Additional candidate genes—LIN28B, GABRA1, NPYR, TAC3, and TACR3—have been recently linked to pubertal regulation, although their precise mechanistic roles remain unclear. Beyond genetics, environmental exposures, particularly to endocrine-disrupting chemicals (EDCs), have been implicated in modulating pubertal timing.ConclusionCPP in boys results from a multifactorial interplay between genetic predisposition and environmental influences. This review summarizes recent evidence regarding the prevalence of brain lesions, emerging genetic discoveries, and the role of endocrine disruptors, to promote a more personalized and precise diagnostic algorithm.