These are individuals with an X0/XX sex chromosome mosaic. Such girls are seen to exhibit pure gonadal dysgenesis. They present with an infantile female phenotype, primary amenorrhoea and infertility but lack the short stature and other somatic stigmata of Turner's syndrome patients.
Turner's syndrome mosaics account for about 16% of patients with gonadal dysgenesis.
Very rarely a mosaic may be 45X0/46XY.
Last reviewed 01/2018