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Endocrine disorders associated with holoprosencephaly.

Jin S Hahn1, Sara M Hahn, Heather Kammann

  • 1Department of Pediatrics, Stanford University, Stanford, CA, 94305-5235, USA. jhahn@stanford.edu

Journal of Pediatric Endocrinology & Metabolism : JPEM
|December 17, 2005
PubMed
Summary

Holoprosencephaly (HPE) is linked to a high incidence of diabetes insipidus (DI), with severity correlating to brain abnormalities. Other endocrine issues like hypothyroidism are less common in HPE patients.

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Area of Science:

  • Endocrinology
  • Neuroscience
  • Genetics

Background:

  • Holoprosencephaly (HPE) is a congenital disorder resulting from incomplete forebrain cleavage.
  • Endocrinopathies are common in HPE, but their incidence and correlation with neuroanatomic severity require further investigation.

Purpose of the Study:

  • To determine the frequency of endocrinopathies in children with HPE.
  • To correlate the severity of endocrine dysfunction with neuroanatomic abnormalities observed in HPE.

Main Methods:

  • Retrospective review of medical records and neuroimaging studies for 117 children diagnosed with HPE.
  • Grading of HPE severity, hypothalamic non-separation, and pituitary abnormalities based on neuroimaging.
  • Assessment for various endocrinopathies, including diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency.

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Main Results:

  • Diabetes insipidus (DI) was observed in 70% of patients with classic HPE.
  • The severity of DI significantly correlated with the overall HPE grade and hypothalamic non-separation (p < 0.0001).
  • Anterior pituitary dysfunctions, such as hypothyroidism (11%), hypocorticism (7%), and growth hormone deficiency (5%), were less frequent. Only one patient with the middle interhemispheric variant (MIH) exhibited these disorders.

Conclusions:

  • HPE is associated with a high incidence of DI, potentially due to impaired development of hypothalamic nuclei.
  • Anterior pituitary dysfunctions are considerably less common than DI in patients with HPE.