title: [The Wolfram syndrome: diabetes mellitus, hypacusis, optic atrophy and short stature in STH deficiency].
abstract: METHODS
  A 43-year-old man was known for 3 years to have diabetes mellitus. For 2 months before admission he had symptoms of hyperglycaemia with polyuria, polydipsia, weight loss, as well as impairment of vision and declining fitness. In addition to bilateral deafness he was clearly of normally proportioned short stature (150 cm).
  
  
  METHODS
  The levels of blood sugar (221 mg/dl), HbA1c(10.2%), triglycerides (496 mg/dl) and cholesterol (323 mg/dl) were raised, while the concentration of somatotropic hormone was diminished, both before and after arginine administration. Fundoscopy revealed concentric diminution of the visual fields with left amblyopia. Visual evoked potentials and colour sense testing revealed bilateral optical atrophy, and the audiogram demonstrated deafness. These findings provided the diagnosis of Wolfram syndrome, namely insulin-dependent diabetes mellitus, deafness, optical atrophy and small stature with somatotropic hormone deficiency.
  
  
  METHODS
  On insulin treatment the metabolic state became normal (HbA1c 7.5%, normal lipid profile). It was decided that the deficiency in somatotropic hormone regulation did not require treatment.
  
  
  CONCLUSIONS
  Cardinal symptoms of the autosomally recessive Wolfram syndrome are insulin-dependent diabetes and optic nerve atrophy. Several types of hormonal abnormalities are associated with it, including a deficiency in the somatotropic axis. To obtain early and adequate hormonal substitution requires extensive endocrinological diagnosis of a disease which frequently becomes manifest in childhood or adolescence.
authors.affiliation: Medizinische Klinik, Universität Heidelberg.
authors.forename: M
authors.initials: M
authors.lastname: Hofmann
authors.forename: H
authors.initials: H
authors.lastname: Boehmer
authors.forename: M
authors.initials: M
authors.lastname: Zumbach
authors.forename: V
authors.initials: V
authors.lastname: Borcea
authors.forename: A
authors.initials: A
authors.lastname: Grauer
authors.forename: C
authors.initials: C
authors.lastname: Kasperk
authors.forename: P
authors.initials: P
authors.lastname: Heilmann
authors.forename: R
authors.initials: R
authors.lastname: Ziegler
authors.forename: P
authors.initials: P
authors.lastname: Wahl
authors.forename: P P
authors.initials: PP
authors.lastname: Nawroth
mesh_terms: D000328:Adult; D004359:Drug Therapy, Combination; D005905:Glyburide / Q000008:administration & dosage; D006130:Growth Disorders / Q000097:blood / Q000175:diagnosis*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage; D007328:Insulin / Q000008:administration & dosage; D008297:Male; D008687:Metformin / Q000008:administration & dosage; D014929:Wolfram Syndrome / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin; D019382:Human Growth Hormone; D008687:Metformin; D005905:Glyburide
vernacular_title: Wolfram-Syndrom: Diabetes mellitus, Hypakusis, Optikusatrophie und Kleinwuchs bei STH-Mangel.