title: Cerebral midline developmental anomalies: endocrine, neuroradiographic and ophthalmological features.
abstract: BACKGROUND
  Hypopituitarism may occur in patients with midline cerebral defects (MCD), including septo-optic dysplasia (SOD). HESX1 gene mutations have been associated with SOD.
  
  
  OBJECTIVE
  To evaluate the endocrine, ophthalmological and neuroradiographic abnormalities in 18 patients with MCD and SOD without mutations at the HESX1 locus.
  
  
  METHODS
  The diagnosis of hypothalamic and pituitary abnormalities was confirmed by clinical findings and basal hormone values or functional tests. All patients underwent ophthalmological examination and neuroradiologic studies by MRI.
  
  
  RESULTS
  The diagnosis of hypothalamic and pituitary abnormalities varied from 3 days to 13 years. Endocrine abnormalities were found in 88% of the patients: GH deficiency (72%), hypothyroidism (66%), hypogonadism (45%), diabetes insipidus (27%), adrenal insufficiency (10%), and precocious puberty (5%). Psychomotor retardation was observed in 55% and seizures in 22%. Visual status varied from normal to blindness. MRI confirmed heterogeneous intracranial malformations.
  
  
  CONCLUSIONS
  Our data support the need for systematic and periodic endocrine evaluation of patients with MCD using a multidisciplinary approach.
authors.affiliation: Department of Pediatrics, School of Medicine of Ribeirao Preto, USP, Ribeirao Preto, SP, Brazil.
authors.forename: S R R
authors.initials: SR
authors.lastname: Antonini
authors.forename: A
authors.initials: A
authors.lastname: Grecco Filho
authors.forename: L L K
authors.initials: LL
authors.lastname: Elias
authors.forename: A C
authors.initials: AC
authors.lastname: Moreira
authors.forename: M
authors.initials: M
authors.lastname: Castro
mesh_terms: D000293:Adolescent; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004700:Endocrine System Diseases / Q000209:etiology*; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000494:pharmacology; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology; D007031:Hypothalamus / Q000002:abnormalities*; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities*; D025962:Septo-Optic Dysplasia / Q000209:etiology*
chemical_list: D007987:Gonadotropin-Releasing Hormone