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Central Precocious Puberty - Management and Long-term Outcomes

Juliane Léger1,2,3, Jean-Claude Carel1,2,3

  • 1Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service d'Endocrinoiogie Diabetologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F-75019 Paris, France.

European Endocrinology
|April 11, 2018
PubMed

Insights

Central precocious puberty (CPP) is a condition of early activation of the reproductive axis, often idiopathic. Gene inactivation, particularly of MKRN3, is increasingly implicated in its development.

Area of Science:

  • Pediatric endocrinology
  • Genetics
  • Neuroendocrinology

Background:

  • Central precocious puberty (CPP) is characterized by premature activation of the hypothalamic-pituitary-gonadal axis.
  • CPP occurs more frequently in girls and is often idiopathic, though hypothalamic lesions are a cause in boys.
  • Recent research highlights the role of MKRN3 gene inactivation in cases previously considered idiopathic.

Discussion:

  • The MKRN3 gene is maternally imprinted and its inactivation is a significant factor in familial forms of CPP.
  • Understanding the genetic underpinnings of CPP is crucial for accurate diagnosis and management.
  • The prevalence and specific genetic causes of CPP may differ between sexes.

Key Insights:

  • Inactivation of the MKRN3 gene is a key cause of idiopathic central precocious puberty.
  • While often idiopathic, CPP in boys has a higher association with hypothalamic lesions.
  • Genetic factors are increasingly recognized as important in the etiology of CPP.

Outlook:

  • Further research into genetic modifiers and epigenetic factors influencing CPP is warranted.
  • Investigating novel therapeutic targets based on genetic findings could improve treatment outcomes.
  • Longitudinal studies are needed to understand the long-term effects of genetic causes of CPP.

Keywords:
Precocious pubertyoutcometreatment

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