Pure XX gonadal dysgenesis in identical twins

Abstract
Pure gonadal dysgenesis was described in several sibships. Monozygous twins and their younger sister are reported with secondary amenorrhea. They had no associated congenital anomalies. Plasma FSH levels were elevated, and the ovarian biopsies showed an absence of follicular structures. Their karyotypes were 46XX, further supporting the concept that this form of familial gonadal dysgenesis is an autosomal recessive defect.