title: An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report.
abstract: Isodicentric X chromosomes in general have phenotypes characteristic of the resultant X deletions. Gonadotropin levels in Turner's syndrome (TS) girls are high, but have a normal biphasic pattern. Here, we report a 21-year-old lady with primary amenorrhea. Clinical examination revealed a short neck but no other typical stigmata of Turner's syndrome. The levels of gonadotropin were not raised to post-menopausal levels. A chromosome study showed a 45,X/46,X,idic(X)(q22) karyotype. She was diagnosed as having Turner's syndrome.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Tse-Ya
authors.initials: TY
authors.lastname: Yu
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Taipei County Hospital, Taipei County, Taiwan.
authors.forename: Huan-Sheng
authors.initials: HS
authors.lastname: Lin
authors.affiliation: Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Pei-Lung
authors.initials: PL
authors.lastname: Chen
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: huangts@ntu.edu.tw.
authors.forename: Tien-Shang
authors.initials: TS
authors.lastname: Huang
mesh_terms: D001827:Body Height; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
keywords: Turner's syndrome; gonadal dysgenesis; phenotype