Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation

Endocrine Journal

Kenjiro KOSAKI²  Naoko SATO³  Eishin OGAWA¹  Toru UDAKA²  Ikuma FUJIWARA¹  Tsutomu OGATA³ 

[1] Department of Pediatrics, Tohoku University School of Medicine;Department of Pediatrics, Keio University School of Medicine;Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development

关键词: CHARGE syndrome;    Kallmann syndrome;    Phenotype;    CHD7;   

DOI  :  10.1507/endocrj.K06-099

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(10)Cited-By(26)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.

【 授权许可】

Unknown