title: Premature pubarche in children with Pompe disease.
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.
authors: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
authors: Queenie K-G
authors: QK
authors: Tan
authors: Division of Genetic and Metabolic Disorders, Departments of Pediatrics and Internal Medicine, Wayne State University and Children's Hospital of Michigan, Detroit, MI.
authors: David W
authors: DW
authors: Stockton
authors: Division of Medical Genetics, Department of Pediatrics, University of Tennessee; Le Bonheur Children's Hospital, Memphis, TN.
authors: Eniko
authors: E
authors: Pivnick
authors: Departments of Radiology, Ophthalmology, and Neurosurgery, University of Tennessee Health Science Center; Le Bonheur Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, TN.
authors: Asim F
authors: AF
authors: Choudhri
authors: Division of Medical Genetics, Department of Pediatrics, University of Tennessee; Le Bonheur Children's Hospital, Memphis, TN.
authors: Stacy
authors: S
authors: Hines-Dowell
authors: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
authors: Loren D M
authors: LD
authors: Pena
authors: Division of Primary Care, Department of Pediatrics, Duke University Medical Center, Durham, NC.
authors: Melissa A
authors: MA
authors: Deimling
authors: Division of Endocrinology, Department of Pediatrics, Duke University Medical Center, Durham, NC.
authors: Michael S
authors: MS
authors: Freemark
authors: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address: priya.kishnani@duke.edu.
authors: Priya S
authors: PS
authors: Kishnani
mesh_terms: D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D011627:Puberty; D012189:Retrospective Studies; D046468:Sexual Development