title: 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.
abstract: OBJECTIVE
  To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University teaching hospital.
  
  
  METHODS
  A 20-year-old male patient with 4H syndrome.
  
  
  RESULTS
  The patient was found to have delayed tooth eruption and a late-onset growth hormone deficiency without overt growth failure. He was a compound heterozygote for the novel missense mutations R1005H and A1331T of POLR3A, which codes for the largest subunit of RNA polymerase III.
  
  
  CONCLUSIONS
  This is the first report of this type of leukodystrophy from southeastern Europe, which suggests that POLR3A mutations should be suspected in patients with hypomyelination and various central nervous system–based endocrine abnormalities.
authors.affiliation: Clinic for Child Neurology and Psychiatry, Department of Child Neurology, University of Belgrade, Serbia.
authors.forename: Ana
authors.initials: A
authors.lastname: Potic
authors.forename: Bernard
authors.initials: B
authors.lastname: Brais
authors.forename: Karine
authors.initials: K
authors.lastname: Choquet
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Geneviève
authors.initials: G
authors.lastname: Bernard
mesh_terms: D000848:Anodontia / Q000209:etiology; D001259:Ataxia / Q000209:etiology; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000209:etiology; D004393:Dwarfism, Pituitary / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D012320:RNA Polymerase III / Q000235:genetics*; D055815:Young Adult
chemical_list: C468558:POLR3B protein, human; D012320:RNA Polymerase III