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

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.