[Peripheral precocious puberty: clinical, diagnostic and therapeutical principles]

Area of Science:

• Pediatric Endocrinology
• Reproductive Medicine
• Genetics

Context:

• Peripheral precocious puberty (PPP) is a rare condition distinct from central precocious puberty (CPP).
• It stems from elevated sex steroids due to genetic disorders or acquired conditions, excluding hypothalamic-pituitary-gonadal axis activation.
• Recent advancements in molecular biology and diagnostics have improved understanding and identification of PPP causes.

Purpose:

• To review the current understanding of peripheral precocious puberty (PPP) pathophysiology.
• To highlight diagnostic improvements in identifying genetic and acquired causes of PPP.
• To critically assess the efficacy of current therapeutic strategies for McCune-Albright syndrome and testotoxicosis.

Summary:

• Molecular advances have elucidated the pathophysiology of McCune-Albright syndrome and testotoxicosis.
• Improved diagnostic tools aid in the early detection of acquired PPP, particularly tumor-related cases.
• Despite diagnostic progress, therapeutic outcomes for McCune-Albright syndrome and testotoxicosis remain unsatisfactory.

Impact:

• Current treatment failures in PPP, especially McCune-Albright syndrome, are attributed to the absence of well-designed, adequately powered clinical trials.
• This highlights a critical need for rigorous research to develop effective therapies for these rare conditions.
• Improved treatment strategies are essential for better long-term outcomes in affected children.