Achondroplasia associated with gonadal dysgenesis

Gökçe C. , Atabek E. M. , KAYNAR L. , Torun E., Kurtoglu S. , Bayram F.

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, cilt.36, ss.605-608, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 36 Konu: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1177/147323000803600329
  • Sayfa Sayıları: ss.605-608


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.