Premature pubarche in children with Pompe disease

Queenie K-G Tan; David W Stockton; Eniko Pivnick; Asim F Choudhri; Stacy Hines-Dowell; Loren D M Pena; Melissa A Deimling; Michael S Freemark; Priya S Kishnani

doi:10.1016/j.jpeds.2014.12.074

Premature pubarche in children with Pompe disease

J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.

Authors

Queenie K-G Tan¹, David W Stockton², Eniko Pivnick³, Asim F Choudhri⁴, Stacy Hines-Dowell³, Loren D M Pena¹, Melissa A Deimling⁵, Michael S Freemark⁶, Priya S Kishnani⁷

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
² Division of Genetic and Metabolic Disorders, Departments of Pediatrics and Internal Medicine, Wayne State University and Children's Hospital of Michigan, Detroit, MI.
³ Division of Medical Genetics, Department of Pediatrics, University of Tennessee; Le Bonheur Children's Hospital, Memphis, TN.
⁴ Departments of Radiology, Ophthalmology, and Neurosurgery, University of Tennessee Health Science Center; Le Bonheur Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, TN.
⁵ Division of Primary Care, Department of Pediatrics, Duke University Medical Center, Durham, NC.
⁶ Division of Endocrinology, Department of Pediatrics, Duke University Medical Center, Durham, NC.
⁷ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address: priya.kishnani@duke.edu.

Abstract

Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-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.

Publication types

Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Enzyme Replacement Therapy / methods*
Female
Follow-Up Studies
Glycogen Storage Disease Type II / physiopathology
Glycogen Storage Disease Type II / therapy*
Humans
Infant
Male
Prognosis
Puberty*
Retrospective Studies
Sexual Development*

Abstract

Publication types

MeSH terms

Grants and funding