5 risultati
We report the case of a 15-year-old girl with bilateral gonadoblastoma and 45,X/46,X,+mar karyotype. She was short but had no other stigmata of Turner syndrome. Her genitalia were completely of the female type until she began to show signs of masculinization at age 13 years. She had breasts of
Gonadoblastoma occurs almost entirely in patients with pure mixed gonadal dysgenesis or in male pseudohermaphrodites. A report of a patient with monolateral gonadoblastoma who sought consultation for primary amenorrhea is presented. Telarche and adrenarche occurred spontaneously at age 12. No signs
A case is presented of a patient with bilateral gonadoblastoma characterized by primary amenorrhea and intense, generalized hirsutism. The physical examination showed somatic stigmas compatible with gonadal dysgenesis. Pneumopelvigraphy showed a uterus and hypoplastic gonads; no microcalcification
Mixed gonadal dysgenesis (MCG) is a rare intersexual disorder, characterized in most cases by the presence of a testis and a contralateral streak gonad; in some cases the contralateral gonad may be rudimentary not having differentiated into an ovary or into a testis and in other cases it may be
Three tall, phenotypic female siblings with XY gonadal dysgenesis were found to have short fourth metacarpal bones (bilateral in two and unilateral in the other). Clitoromegaly was observed in the two older siblings, without hirsutism. Bilateral streak gonads were found in all three. A