Objective:

To summarize recent evidence regarding the prevalence of brain lesions, emerging genetic discoveries, and the role of endocrine disruptors in central precocious puberty (CPP) in males.

Approach:

• Background: Central precocious puberty (CPP) in males is diagnosed by testicular volume >4 mL before age 9. Historically, CPP was associated with intracranial lesions in 40-50% of cases.
• Recent Findings: Recent evidence shows a lower prevalence of brain lesions in males with CPP (6-8%). Risk factors for lesions include neurological symptoms and early pubertal onset. Idiopathic CPP is common, with genetic mutations identified.
• Environmental Influences: Endocrine-disrupting chemicals (EDCs) have been implicated in modulating pubertal timing.

Key Findings:

• The prevalence of brain lesions in males with CPP has decreased significantly to approximately 6-8%.
• Idiopathic CPP represents the majority of cases, with strong genetic links identified.
• Key genetic mutations associated with CPP include KISS1, KISS1R, MKRN3, and DLK1.

Interpretation:

CPP in boys is influenced by a combination of genetic predisposition and environmental factors, necessitating a revised diagnostic approach.

Limitations:

• Previous studies on brain lesions included mixed cohorts and lacked stratification by age or clinical presentation.
• The impact of lifestyle changes during the COVID-19 pandemic on CPP incidence remains unclear.

Conclusion:

CPP in boys results from a multifactorial interplay between genetic predisposition and environmental influences, warranting a more personalized diagnostic algorithm.