Case Report

J Korean Soc Pediatr Endocrinol. 2009; 14(1): 68-72.

Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development in CHARGE Syndrome with CHD7 Mutation.

Sun Hyang Lee, Yong Wha Lee, and Young Lim Shin

¹Department of Pediatrics, College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Korea. ylshin@schbc.ac.kr
²Department of Laboratory Medicine, College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Korea.

CHARGE syndrome is a congenital malformation disorder that includes Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities. Recently hypogonadotropic hypogonadism and abnormal olfactory bulb development are occasionally described in CHARGE syndrome with chromodomain helicase DNA-binding protein 7 (CHD7) gene mutation. We report the case of Korean female patient with CHARGE syndrome and CHD7 mutation who had hypogonadotropic hypogonadism and abnormal olfactory bulb as manifested by delayed puberty and growth retardation at 13 years of age. She had both optic nerve coloboma, external ear abnormalities and bilateral agenesis of the semicircular canals. She had severe mental retardation and autistic-like behavior. We identified a heterozygous nonsense mutation at exon 20 of the CHD7 gene (c.4601G>A; Trp1534X).

Keywords : CHARGE syndrome, Hypogonadotropic hypogonadism, CHD7 mutation