Premature pubarche in children with pompe disease

Abstract

Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid a-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy. We report a case series of 8 patients with infantile-onset PD on enzyme replacement therapy with premature pubarche.