Gonadal dysgenesis is used to describe those situations in which primordial germ cells reach the ovary but are progressively destroyed so that few remain by the time of puberty.
Chromosomal abnormalities usually underlie dysgenesis. Turner's syndrome and Turner's syndrome mosaic are common causes but dysgenesis may also occur in females with normal karyotypes ie. 46,XX.
Patients with gonadal dysgenesis are hypoestrogenic, possess infantile secondary sexual characteristics, and are sterile. They may present with primary amenorrhoea.
Last reviewed 01/2018