Precocious puberty in patients with Pompe disease

Frontiers in Endocrinology

Endocrinology

Yi-Ching Tung¹  Yin-Hsiu Chien²  Meng-Ju Melody Tsai³  Mei-Huei Chen⁴ 

[1] Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan;Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan;Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan;Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan;Department of Pediatrics, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan;Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan;Institute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan;

关键词: Pompe disease;    precocious puberty;    phthalate exposure;    enzyme replacement therapy;    mono-2-ethylhexyl phthalate;   

DOI  :  10.3389/fendo.2023.1150498

 received in 2023-01-25, accepted in 2023-07-28,  发布年份 2023

来源: Frontiers

【 摘 要 】

IntroductionThe 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.MethodsIn 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.ResultsFive out of nine patients (55%) with Pompe disease on enzyme replacement therapy had precocious puberty. Patients with precocious puberty had significantly shorter predicted adult heights compared to those with normal puberty (p = 0.014). The levels of mono-2-ethylhexyl phthalate (MEHP) and mono(2-ethyl-5-carboxypentyl) phthalate (MECPP) increased after enzyme replacement therapy, but the average levels of phthalate metabolites did not significantly differ between patients with normal and precocious puberty.ConclusionPompe disease patients on enzyme replacement therapy tend to have precocious puberty, which may reduce their adult height. There are no significant differences in urinary phthalate metabolites between normal and precocious puberty patients. Regular follow-up of growth and puberty in Pompe disease patients is important to improve their health outcomes.

【 授权许可】

Unknown   
Copyright © 2023 Tsai, Chen, Chien and Tung