Endocrine disorders associated with holoprosencephaly

Jin S. Hahn, Sara M. Hahn, Heather Kammann, A. James Barkovich, Nancy J. Clegg, Mauricio R. Delgado, Eric Levey

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Objective. To investigate the incidence of endocrinopathies in holoprosencephaly (HPE) and correlate the severity of the endocrinopathies with the neuroanatomic abnormalities. Study design. We reviewed the histories and medical records of 117 children with HPE for endocrinopathies and related treatments. Neuro-imaging 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

Original languageEnglish (US)
Pages (from-to)935-941
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number10
StatePublished - Oct 2005


  • Diabetes insipidus
  • Endocrinopathy
  • Holoprosencephaly
  • Malformation
  • Syntelencephy

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health


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