Document Detail


Endocrine disorders associated with holoprosencephaly.
MedLine Citation:
PMID:  16355806     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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. 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:
Jin S Hahn; Sara M Hahn; Heather Kammann; A James Barkovich; Nancy J Clegg; Mauricio R Delgado; Eric Levey
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  18     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-12-16     Completed Date:  2006-01-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  935-41     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Stanford University, Stanford, CA, 94305-5235, USA. jhahn@stanford.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Diabetes Insipidus / etiology,  pathology
Endocrine System Diseases / etiology*,  pathology
Female
Holoprosencephaly / complications*,  pathology
Humans
Infant
Male
Pituitary Diseases / etiology,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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