Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/17205
Structural Pituitary Abnormalities Associated With CHARGE Syndrome
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DOI: 10.1210/jc.2012-3467
ISSN: 0021-972X
WOS ID: 000317195600019
Scopus EID: 2-s2.0-84876273989
PMID: 23526466
Embase PUI: L368740154
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2013-04Document type
research articleCitation
Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, et al. Structural Pituitary Abnormalities Associated With CHARGE Syndrome. J Clin Endocrinol Metab. 2013 Apr;98(4):E737-43. Epub 2013 Mar 22.Abstract
Introduction: CHARGE syndrome is a multisystem disorder that, in addition to Kallmann syndrome/isolated hypogonadotrophic hypogonadism, has been associated with anterior pituitary hypoplasia (APH). However, structural abnormalities such as an ectopic posterior pituitary (EPP) have not yet been described in such patients. Objective: The aims of the study were: 1) to describe the association between CHARGE syndrome and a structurally abnormal pituitary gland; and 2) to investigate whether CHD7 variants, which are identified in 65% of CHARGE patients, are common in septo-optic dysplasia/hypopituitarism. Methods: We describe 2 patients with features of CHARGE and EPP. CHD7 was sequenced in these and other patients with septo-optic dysplasia/hypopituitarism. Results: EPP, APH, and GH, TSH, and probable LH/FSH deficiency were present in 1 patient, and EPP and APH with GH, TSH, LH/FSH, and ACTH deficiency were present in another patient, both of whom had features of CHARGE syndrome. Both had variations in CHD7 that were novel and undetected in control cohorts or in the international database of CHARGE patients, but were also present in their unaffected mothers. No CHD7 variants were detected in the patients with septo-optic dysplasia/hypopituitarism without additional CHARGE features. Conclusion: We report a novel association between CHARGE syndrome and structural abnormalities of the pituitary gland in 2 patients with variations in CHD7 that are of unknown significance. However, CHD7 mutations are an uncommon cause of septo-optic dysplasia or hypopituitarism. Our data suggest the need for evaluation of pituitary function/anatomy in patients with CHARGE syndrome. (J Clin Endocrinol Metab 98: E737-E743, 2013)
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https://dx.doi.org/10.1210/jc.2012-3467MeSH
ChildConsensus Sequence
Base Sequence
DNA-Binding Proteins
Humans
Pituitary Gland
Hypopituitarism
Models, Biological
DNA Helicases
Amino Acid Sequence
Septo-Optic Dysplasia
DNA Mutational Analysis
Male
Cohort Studies
CHARGE Syndrome
DeCS
Estudios de CohortesDisplasia Septo-Óptica
Análisis Mutacional de ADN
Masculino
Secuencia de Bases
Hipófisis
Síndrome CHARGE
Proteínas de Unión al ADN
ADN Helicasas
Secuencia de Aminoácidos
Humanos
Hipopituitarismo
Modelos Biológicos
Niño
Secuencia de Consenso