Precocious puberty in patients with Pompe disease

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Pompe disease survival has improved with neonatal screening and enzyme replacement therapy (ERT).
• The impact of medical device exposure on pubertal development in Pompe disease patients remains unclear.

Purpose of the Study:

• To assess growth and puberty in Pompe disease patients.
• To investigate the effect of plastic medical device exposure on pubertal development.

Main Methods:

• Cross-sectional study of nine Pompe disease patients.
• Measurement of urinary phthalate metabolites before and after ERT.

Main Results:

• 55% of patients on ERT exhibited precocious puberty.
• Precocious puberty correlated with shorter predicted adult height (p=0.014).
• Phthalate metabolite levels (MEHP, MECPP) increased post-ERT, but no significant differences were found between puberty groups.

Conclusions:

• Pompe disease patients on ERT may experience precocious puberty, potentially impacting adult height.
• Urinary phthalate metabolite levels did not significantly differentiate between normal and precocious puberty.
• Regular monitoring of growth and puberty is crucial for Pompe disease patients.