Central precocious puberty: From genetics to treatment

Area of Science:

• Pediatric endocrinology
• Neuroendocrinology
• Genetics

Background:

• Central precocious puberty (CPP) involves premature activation of the hypothalamic-pituitary-gonadal (HPG) axis.
• The kisspeptin system is crucial for pubertal initiation, and its dysfunction is implicated in CPP.
• Mutations in kisspeptin system genes, MKRN3, and DLK1 are identified causes of CPP.

Purpose of the Study:

• To review the current understanding of CPP.
• To discuss diagnostic criteria and treatment strategies.
• To identify areas for future research in CPP management.

Main Methods:

• Review of existing literature on CPP.
• Analysis of diagnostic approaches.
• Evaluation of current treatment modalities, including GnRH analogs.
• Discussion of genetic factors and emerging therapeutic targets.

Main Results:

• CPP diagnosis relies on clinical signs of puberty and laboratory confirmation of HPG axis activation.
• Gonadotropin-releasing hormone (GnRH) analogs are the primary treatment for height preservation.
• Current extended-release formulations show no evidence of long-term complications.

Conclusions:

• GnRH analog therapy is effective for height preservation in CPP.
• Further research is needed on targeted therapies, clinical management, psychological impacts, and long-term outcomes, especially in males.