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Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome

Departments of Endocrinology and Metabolism (Y.A., Y.T., K.M., M.A.), Genetics (K.Ku.), and Radiology (K.F., N.A.), Kanagawa Children’s Medical Center, Kanagawa 232-8555, Japan; Department of Genetics (H.K.), Nagano Children’s Hospital, Nagano 399-8288, Japan; and Department of Pediatrics (K.Ko.), Keio University School of Medicine, Tokyo 160-8582, Japan

Address all correspondence and requests for reprints to: Yumi Asakura, M.D., Department of Endocrinology and Metabolism, 2-138-4 Mutsukawa Minamiku Yokohamashi, Kanagawa Children’s Medical Center, Kanagawa 232-8555, Japan. E-mail: yumi79{at}mvb.biglobe.ne.jp.

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.