| Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. | |
MedLine Citation:
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PMID: 18089695 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CONTEXT: CHARGE syndrome is a complex of congenital malformations, and CHD7 has been reported as a major gene involved in the etiology. OBJECTIVE: We performed endocrine and radiological studies to determine whether endocrinological disorders such as hypogonadotropic hypogonadism, GH deficiency, or hypothyroidism are involved and also whether olfactory bulb hypoplasia and semicircular canal aplasia are major signs in patients with molecularly confirmed CHARGE syndrome. DESIGN: Clinical features, endocrinological assessments, and radiological abnormalities in eight children (five boys and three girls) whose molecular analyses were available were evaluated among 15 children clinically diagnosed with CHARGE syndrome at our institute. RESULTS: We identified heterozygous CHD7 mutations in all patients screened for mutations. Four boys had micropenis and/or cryptorchidism. One was diagnosed with GH deficiency, and the other was diagnosed with hypothyroidism. Computed tomography findings revealed aplasia of the semicircular canals. Magnetic resonance imaging studies of the olfactory bulb region revealed abnormal olfactory sulci and bulb development in all children. CONCLUSION: We suggest that hypogonadism, GH deficiency, and hypothyroidism could be possible endocrinological defects in patients with CHD7 mutations and that olfactory bulb hypoplasia as well as semicircular canal aplasia should be considered as a major sign for CHARGE syndrome and recommend a computed tomography scan of the temporal bone and magnetic resonance imaging study of the olfactory bulb region. |
Authors:
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Yumi Asakura; Yuko Toyota; Koji Muroya; Kenji Kurosawa; Kazutoshi Fujita; Noriko Aida; Hiroshi Kawame; Kenjiro Kosaki; Masanori Adachi |
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Publication Detail:
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Type: Journal Article Date: 2007-12-18 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 93 ISSN: 0021-972X ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-03-07 Completed Date: 2008-04-15 Revised Date: 2013-02-11 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: 920-4 Citation Subset: AIM; IM |
Affiliation:
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Department of Endocrinology and Metabolism, 2-138-4 Mutsukawa Minamiku Yokohamashi, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan. yumi79@mvb.biglobe.ne.jp |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
metabolism,
pathology Child Choanal Atresia / genetics, metabolism, pathology Coloboma Congenital Hypothyroidism / genetics, metabolism, pathology DNA Helicases / genetics* DNA-Binding Proteins / genetics* Female Heart Defects, Congenital / genetics, metabolism, pathology Human Growth Hormone / deficiency, secretion Humans Luteinizing Hormone / blood Magnetic Resonance Imaging Male Mutation* Olfactory Bulb / abnormalities Syndrome Thyrotropin / blood Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 12629-01-5/Human Growth Hormone; 9002-67-9/Luteinizing Hormone; 9002-71-5/Thyrotropin; EC 3.6.1.-/DNA Helicases; EC 3.6.4.12/CHD7 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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