Achondroplasia associated with gonadal dysgenesis


Gokce C., Atabek M., KAYNAR L., Torun E., Kurtoglu S., BAYRAM F.

Journal of International Medical Research, vol.36, no.3, pp.605-608, 2008 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 3
  • Publication Date: 2008
  • Doi Number: 10.1177/147323000803600329
  • Journal Name: Journal of International Medical Research
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.605-608
  • Keywords: Acondroplasia, Gonadal dysgenesis
  • Istanbul Medipol University Affiliated: No

Abstract

A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage 5 (Tanner staging). Chromosomal analysis showed a 46XX karyotype. Skeletal X-ray showed small iliac wings and narrow sciatic notches. On pelvic ultrasound examination, the uterus appeared infantile and the ovaries were not visualized. Physical examination and laboratory parameters revealed a diagnosis of hypergonadotrophic hypogonadism. To the authors' knowledge, this is the first case of achondroplasia with gonadal dysgenesis discussed in the literature. Copyright © 2008 Field House Publishing LLP.