Structural Pituitary Abnormalities Associated With CHARGE Syndrome
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 descr...
| Autores: | , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2013 |
| País: | España |
| Institución: | Conselleria de Salut i Consum del Govern de les Illes Balears |
| Repositorio: | Docusalut |
| Idioma: | inglés |
| OAI Identifier: | oai:docusalut.com:20.500.13003/17205 |
| Acceso en línea: | https://hdl.handle.net/20.500.13003/17205 |
| Access Level: | acceso abierto |
| Palabra clave: | Amino Acid Sequence CHARGE Syndrome Cohort Studies Male DNA Mutational Analysis Septo-Optic Dysplasia DNA Helicases Models, Biological Hypopituitarism Pituitary Gland Humans DNA-Binding Proteins Base Sequence Consensus Sequence Child Modelos Biológicos Hipófisis Secuencia de Bases Masculino Análisis Mutacional de ADN Humanos Estudios de Cohortes Displasia Septo-Óptica Secuencia de Aminoácidos Niño Secuencia de Consenso Síndrome CHARGE Proteínas de Unión al ADN Hipopituitarismo ADN Helicasas |
| Sumario: | 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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