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Structural pituitary abnormalities associated with CHARGE syndrome
Louise C Gregory1, Evelien F Gevers, Joanne Baker
1Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom.
The Journal of Clinical Endocrinology and Metabolism
|March 26, 2013
Summary
CHARGE syndrome is linked to pituitary abnormalities, including ectopic posterior pituitary and anterior pituitary hypoplasia. Evaluation of pituitary function is recommended for patients with CHARGE syndrome.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Medicine
Background:
- CHARGE syndrome is a complex multisystem disorder.
- It is often associated with Kallmann syndrome and anterior pituitary hypoplasia (APH).
- Structural pituitary abnormalities like ectopic posterior pituitary (EPP) have not been previously reported in CHARGE syndrome.
Observation:
- Two patients with CHARGE syndrome features presented with EPP and APH.
- Both patients exhibited deficiencies in multiple pituitary hormones.
- Novel CHD7 variants were identified in these patients, also present in their unaffected mothers.
Findings:
- This study reports a novel association between CHARGE syndrome and structural pituitary gland abnormalities.
- CHD7 variants, while present in the affected patients, were of unknown significance and also found in unaffected mothers.
- CHD7 mutations were not found to be a common cause of septo-optic dysplasia or hypopituitarism without additional CHARGE features.
Implications:
- The findings highlight the importance of assessing pituitary function and anatomy in individuals diagnosed with CHARGE syndrome.
- This research expands the understanding of pituitary abnormalities in genetic disorders.
- Further investigation into the role of CHD7 variants in pituitary development is warranted.
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