Precocious puberty in patients with Pompe disease.

ABSTRACT:

Introduction

The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is not well understood, so further investigation is warranted.

Methods

In this cross-sectional study, we assessed the growth and puberty of nine Pompe disease patients. In addition, to determine the effects of frequent plastic medical device exposure in these patients, we measured urinary phthalate metabolites before and one day after enzyme replacement therapy.

Results

Five out of nine patients (55%) with Pompe disease on enzyme replacement therapy had precocious puberty. Patients with precocious puberty had significan

SUBMITTER: Tsai MM 

PROVIDER: S-EPMC10465365 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature