Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
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.
Asakura
Yumi
Y
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
Toyota
Yuko
Y
Muroya
Koji
K
Kurosawa
Kenji
K
Fujita
Kazutoshi
K
Aida
Noriko
N
Kawame
Hiroshi
H
Kosaki
Kenjiro
K
Adachi
Masanori
M
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
D004268:DNA-Binding Proteins; D019382:Human Growth Hormone; D007986:Luteinizing Hormone; D013972:Thyrotropin; D004265:DNA Helicases; C491434:CHD7 protein, human