title: Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
abstract: Mitochondrial disorders can affect any organ system, but certain tissues, such as skeletal muscle, heart, and brain are more susceptible to oxidative phosphorylation defects because of their high energy requirements. Endocrinological manifestations, especially diabetes mellitus, are common but they rarely dominate the clinical picture. We describe a 5-year-old girl who died of primary adrenal insufficiency with a mitochondrial disease. Biochemical studies in muscle showed decreased respiratory chain enzyme activities. We detected a novel 7.0 kb mtDNA deletion in muscle form the proband, but not in her mother's white blood cells. Our findings further enlarge the spectrum of clinical presentation associated with mitochondrial DNA deletions.
authors.affiliation: Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, NY, USA.
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: Y
authors.initials: Y
authors.lastname: Tang
authors.forename: P J
authors.initials: PJ
authors.lastname: Magalhães
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: G
authors.initials: G
authors.lastname: Cordone
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans
chemical_list: D004272:DNA, Mitochondrial