title: Endocrine disorders associated with holoprosencephaly.
abstract: OBJECTIVE
  To investigate the incidence of endocrinopathies in holoprosencephaly (HPE) and correlate the severity of the endocrinopathies with the neuroanatomic abnormalities.
  
  
  METHODS
  We reviewed the histories and medical records of 117 children with HPE for endocrinopathies and related treatments. Neuroimaging studies were graded for severity of HPE, hypothalamus non-separation, and pituitary abnormalities.
  
  
  RESULTS
  Diabetes insipidus (DI) occurred in 70% of patients with classic HPE. The severity of the DI correlated with the grade of HPE and hypothalamic non-separation (p < 0.0001). Anterior pituitary dysfunctions were much less common. Hypothyroidism was identified in 11% of patients, hypocorticism in 7%, and growth hormone deficiency in 5%. Only one patient with middle interhemispheric variant of holoprosencephaly (MIH) had any of these disorders.
  
  
  CONCLUSIONS
  Patients with HPE have a high incidence of DI that may be related to the failure of cleavage of hypothalamic nuclei. Anterior pituitary dysfunctions are much less common than DI.
authors.affiliation: Department of Pediatrics, Stanford University, Stanford, CA, 94305-5235, USA. jhahn@stanford.edu
authors.forename: Jin S
authors.initials: JS
authors.lastname: Hahn
authors.forename: Sara M
authors.initials: SM
authors.lastname: Hahn
authors.forename: Heather
authors.initials: H
authors.lastname: Kammann
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Nancy J
authors.initials: NJ
authors.lastname: Clegg
authors.forename: Mauricio R
authors.initials: MR
authors.lastname: Delgado
authors.forename: Eric
authors.initials: E
authors.lastname: Levey
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003919:Diabetes Insipidus / Q000209:etiology / Q000473:pathology; D004700:Endocrine System Diseases / Q000209:etiology* / Q000473:pathology; D005260:Female; D016142:Holoprosencephaly / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010900:Pituitary Diseases / Q000209:etiology / Q000473:pathology