? Poor testicular differentiation - leads to female sexual differentiation by default
? Uterus / tubes / vagina usually present
? Life-time risk of malignancy in rudimentary testes ~30% - gonadectomy indicated in childhood with reconstruction of the external genitalia and oestrogen + progesterone replacement to induce pubertal development
Paul!
I have a doubt.
Aren\'t there two types of Pure gonadal dysgenesis, one with XX karyotype and one with XY karyotype.
PGD with XX has uterus and vaginapresents as Primary amenorrhea. PureGonadal Dysgenesis with XY presents as Primary amenorrhea, but no uterus and vagina, probably Swyer\'s syndrome
Only Mixed Gonadal dysgenesis has male karyotype and ovotestis , presenting as ambiguous genitalia .
Posted by Sivapriya S.
Paul!
My doubt arose in the context that the notes say that
Pure gonadal dysgenesis with Male karyotype with uterus,ovaries and vagina being present , is born with ambiguous genitalia.
Male karyotype with uterus,ovaries and vagina being present , born with ambiguous genitalia would be a mixed gonadal dysgenesis and not a pure gonadal dysgenesis.
