Discussion by Dr Tohidi Gonadal Dysgenesis 05.08.1399

Gonadal dysgenesis

• Definition: any of a multitude of conditions that can cause complete or partial impaired development of the gonads (testes or ovaries).
•  A genetic condition due to:
  •  errors in cell division      or    P alterations in genetic material
•  Time of beginning of development of gonadal dysgenesis: early at
  •  fertilization    or  
  •  shortly after in the early stages of the embryo and fetus

Pure gonadal dysgenesis

• Female phenotype with normal Mullerian structures but are considered infantile due to their lack of adequate hormonal stimulation.
• 46,XX form results from a gene mutation, which is classified as an autosomal recessive disorder.

• Swyer’s 46,XY form is clinically identical to the previous description.
•  The potential genetic etiology the Swyer form is due to an autosomal gene disorder, with recessive or dominant features, but is restricted to males .
• 10-15% of cases of this gonadal dysgenesis are attributed to a mutation or deletion in SRY, but 70-80% of cases are of unknown etiology