An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report

Tse-Ya Yu; Huan-Sheng Lin; Pei-Lung Chen; Tien-Shang Huang

doi:10.1016/j.jfma.2011.05.011

An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report

J Formos Med Assoc. 2015 Jan;114(1):77-80. doi: 10.1016/j.jfma.2011.05.011. Epub 2012 May 2.

Authors

Tse-Ya Yu¹, Huan-Sheng Lin², Pei-Lung Chen³, Tien-Shang Huang⁴

Affiliations

¹ Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
² Division of Endocrinology and Metabolism, Department of Internal Medicine, Taipei County Hospital, Taipei County, Taiwan.
³ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
⁴ Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: huangts@ntu.edu.tw.

PMID: 25618587
DOI: 10.1016/j.jfma.2011.05.011

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.

Keywords: Turner's syndrome; gonadal dysgenesis; phenotype.

Publication types

Case Reports

MeSH terms

Body Height
Chromosomes, Human, X / genetics*
Female
Gonadal Dysgenesis / genetics*
Humans
Karyotyping
Turner Syndrome / diagnosis*
Turner Syndrome / genetics*
Young Adult