title: Growth hormone deficiency in a patient with mitochondrial disease.
abstract: BACKGROUND
  Mitochondrial respiratory chain (MRC) disorders, defined as primary diseases of the oxidative phosphorylation system, are a protean group of metabolic disorders, difficult to diagnose and classify. The diagnosis is complex and requires the integration of information obtained by clinical, laboratory testing, imaging and muscle biopsy. They may be associated with endocrine disorders, including hypothyroidism, diabetes mellitus, hyperinsulinemia and growth hormone (GH) deficiency.
  
  
  METHODS
  We describe a case of five years old male with polymalformative syndrome with a systemic involvement. At 6 months of age, he was sent to metabolic consultation because of facial dysmorphy and short stature. During the investigation it was diagnosed at the boy a growth hormone deficiency and because of his multisystemic involvement, muscle biopsy was carried out and showed reduced activity of complex II (38%) of the mitochondrial respiratory chain. Currently, the boy is under GH therapy with growth in the 5th percentile and coenzime Q10.
  
  
  CONCLUSIONS
  Mitochondrial biology is one of the fastest growing areas in genetics and medicine. Disturbances in mitochondrial metabolism are now known to play a role not only in rare childhood diseases, but also in many common diseases of aging. In mitochondrial disorders, short stature is a common symptom, but its underlying lesion, growth hormone deficiency, is rarely investigated.
authors.forename: Vera
authors.initials: V
authors.lastname: Rocha
authors.forename: Dalila
authors.initials: D
authors.lastname: Rocha
authors.forename: Helena
authors.initials: H
authors.lastname: Santos
authors.forename: Jorge
authors.initials: J
authors.lastname: Sales Marques
mesh_terms: D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000150:complications* / Q000188:drug therapy; D019382:Human Growth Hormone / Q000172:deficiency / Q000627:therapeutic use; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000188:drug therapy; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D019382:Human Growth Hormone; D014451:Ubiquinone; C024989:coenzyme Q10