title: Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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: 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
authors: Yumi
authors: Y
authors: Asakura
authors: Yuko
authors: Y
authors: Toyota
authors: Koji
authors: K
authors: Muroya
authors: Kenji
authors: K
authors: Kurosawa
authors: Kazutoshi
authors: K
authors: Fujita
authors: Noriko
authors: N
authors: Aida
authors: Hiroshi
authors: H
authors: Kawame
authors: Kenjiro
authors: K
authors: Kosaki
authors: Masanori
authors: M
authors: Adachi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D002754:Choanal Atresia / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D003103:Coloboma; D003409:Congenital Hypothyroidism / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019382:Human Growth Hormone / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009830:Olfactory Bulb / Q000002:abnormalities; D013577:Syndrome; D013972:Thyrotropin / Q000097:blood; D014057:Tomography, X-Ray Computed
chemical_list: D004268:DNA-Binding Proteins; D019382:Human Growth Hormone; D007986:Luteinizing Hormone; D013972:Thyrotropin; D004265:DNA Helicases; C491434:CHD7 protein, human