Primary ovarian failure (Turner syndrome excluded). Presenting symptoms and outcome

Although Turner syndrome is the most common cause of ovarian dysgenesis, ov arian failure can be due to other conditions. Fifteen cases are reported in patients with a female phenotype, none of the dysmorphic abnormalities see n in Turner syndrome, and ovarian failure with symptoms ranging from comple te absence of pubertal development to incomplete puberty with primary ameno rrhea. Some patients bad hearing loss or blepharophimosis, which provided v aluable diagnostic orientation. Plasma gonadotropin levels were high, denot ing ovarian failure. Karyotype studies identified a number of cases of 46XY gonadal dysgenesis with the same clinical expression as pure 46XX gonadal dysgenesis. In patients with 46XX gonadal dysgenesis, the etiological diagn osis is readily made when extraovarian abnormalities are also present; howe ver, the mechanism is often unclear, although new genetic molecular and cyt ogenetic techniques can be expected to assist in the classification of thes e cases in the near future. Removal of the gonads is always indicated in pa tients with 46XX dysgenesis; replacement hormone therapy allows gradual fem inization, and subsequently pregnancy can be achieved following ovum donati on. The cases included in this review were all patients with a female pheno type, including female external genital organs and female differentiation o f mullerian structures. The review excluded cases of complete androgen resi stance, which are characterized clinically by gradual feminization with mal e gonads and involution of mullerian structures.