Catalog

46,XX gonadal dysgenesis

LB45.1

Link to WHO Definition

46,XX gonadal dysgenesis – http://id.who.int/icd/entity/1742528605

Karyotype 46 XX; Gonads: gonadal dysgenesis (streak gonads); Phenotype female with symptoms like primary amenorrhea, hypergonadotropic hypogonadism, normal stature and no other abnormalities.

Parents