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Premature pubarche in Prader-Willi syndrome: Risk factors and consequences

Emily Griffing1, Kelsee Halpin1,2, Brian R Lee2

  • 1Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, Missouri, USA.

Clinical Endocrinology
|June 27, 2024
PubMed

Insights

Premature pubarche (PP) is common in children with Prader-Willi Syndrome (PWS) but does not affect final height. Obesity and insulin resistance were not linked to PP in PWS, unlike in other children.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Prader-Willi Syndrome (PWS) is a complex genetic disorder associated with various endocrine abnormalities.
  • Premature pubarche (PP), the early onset of puberty, is observed in some children with PWS.
  • Understanding the frequency, precursors, and consequences of PP in PWS is crucial for patient management.

Purpose of the Study:

  • To determine the incidence of premature pubarche (PP) in children with Prader-Willi Syndrome (PWS).
  • To investigate potential predisposing factors and clinical sequelae associated with PP in PWS.
  • To compare outcomes in PWS patients with PP versus those with normal pubarche (NP).

Main Methods:

  • A retrospective chart review was conducted for children with PWS treated between 1990 and 2021.
  • Premature pubarche was defined by specific age criteria for Tanner stage 2 pubic hair development.
  • Demographic, anthropometric, and laboratory data were collected and analyzed.

Main Results:

  • Of 43 children with PWS, 53.5% exhibited PP, with a median age of 7.0 years compared to 10.0 years in the NP group.
  • PP was not correlated with growth hormone initiation, BMI z-score, or insulin resistance (HOMA-IR) at the time of pubarche.
  • Children with PP had lower high-density lipoprotein (HDL) levels and a modest correlation between BMI z-score and pubarchal advancement.

Conclusions:

  • Premature pubarche is a frequent finding in Prader-Willi Syndrome and does not appear to negatively impact final height.
  • Unlike in the general obese population, obesity and insulin resistance were not found to be associated with premature pubarche in children with PWS.
Abstract

Keywords:
Prader‐Willi syndromeadrenarchecardiometabolic risk factorscentral precocious pubertyinsulin resistancemetabolic syndromepediatric obesity

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