title: Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.
abstract: We report on a 14 7/12-year-old Japanese female patient with CHARGE syndrome and CHD7 mutation who also exhibited Kallmann syndrome (KS) phenotype. She had poor pubertal development and apparently impaired sense of smell. A GnRH test showed severely compromised responses of LH (<0.5 --> <0.5 IU/L) and FSH (<0.5 --> 1.2 IU/L), and magnetic resonance imaging delineated hypoplastic olfactory bulbs. Mutation analysis revealed a heterozygous nonsense mutation at exon 33 of CHD7 (7027C>T, Q2343X). The results provide further support for the notion that KS phenotype can be included in the phenotypic spectrum of CHARGE syndrome, and indicate that CHARGE syndrome with KS phenotype is caused by a CHD7 mutation.
authors.affiliation: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Ikuma
authors.initials: I
authors.lastname: Fujiwara
authors.forename: Eishin
authors.initials: E
authors.lastname: Ogawa
authors.forename: Naoko
authors.initials: N
authors.lastname: Sato
authors.forename: Toru
authors.initials: T
authors.lastname: Udaka
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D017436:Kallmann Syndrome / Q000150:complications* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human