Document Detail

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
MedLine Citation:
PMID:  18089695     Owner:  NLM     Status:  MEDLINE    
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.
Yumi Asakura; Yuko Toyota; Koji Muroya; Kenji Kurosawa; Kazutoshi Fujita; Noriko Aida; Hiroshi Kawame; Kenjiro Kosaki; Masanori Adachi
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Publication Detail:
Type:  Journal Article     Date:  2007-12-18
Journal Detail:
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:
Created Date:  2008-03-07     Completed Date:  2008-04-15     Revised Date:  2013-02-11    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  920-4     Citation Subset:  AIM; IM    
Department of Endocrinology and Metabolism, 2-138-4 Mutsukawa Minamiku Yokohamashi, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan.
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MeSH Terms
Abnormalities, Multiple / genetics*,  metabolism,  pathology
Choanal Atresia / genetics,  metabolism,  pathology
Congenital Hypothyroidism / genetics,  metabolism,  pathology
DNA Helicases / genetics*
DNA-Binding Proteins / genetics*
Heart Defects, Congenital / genetics,  metabolism,  pathology
Human Growth Hormone / deficiency,  secretion
Luteinizing Hormone / blood
Magnetic Resonance Imaging
Olfactory Bulb / abnormalities
Thyrotropin / blood
Tomography, X-Ray Computed
Reg. No./Substance:
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 protein, human

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