XX Gonadal Dysgenesis - Pathogenesis

Pathogenesis

The cause of the condition is often unclear. There are cases where abnormalities in the FSH-receptor have been reported. Apparently either the germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia so that at the end of childhood only a streak gonad is present, unable to induce pubertal changes. As girls' ovaries produce no important body changes before puberty, there is usually no suspicion of a defect of the reproductive system until puberty fails to occur.

Familial cases of XX gonadal dysgenesis are on record.

In one family mutations in the mitochondrial histidyl tRNA synthetase have been described as the cause.