An Atypical Case of Gonadal Dysgenesis

Abstract

A case of gonadal dysgenesis associated with unusual abnormalities is described as follows: a) enlarged pituitary fossa with clinical and laboratory manifestations of hypopituitarism; b) Hashimoto's thyroiditis and XO/X-isoX mosaicism; c) adenocarcinoma of the parotid gland. These uncommon features were present in association with renal and cardiovascular anomalies.