Testicular Feminization: The Clinical Features, Endocrine Function and Gonadal Pathology in Six Patients

Summary: The clinical and endocrinological aspects of 6 patients with testicular feminization are presented. In 5 patients, operative findings and histological appearances of the gonads are detailed. One of the patients showed evidence of virilization. Primary amenorrhoea, a history of similarly affected female relatives, relatively tall stature, inguinal hernia, absent or sparse body hair, good breast development and a cul‐de‐sac vagina were characteristic features. The chromosomal karyotype was typically 46 XY. Urinary oestrogen excretion was reduced from 10–30 μg./24 hours before gonadectomy to 1–3 μg./24 hours after the operation. The gonads were located in the inguinal canal or at the pelvic brim; on histological examination, they resembled the testes in cryptorchidism, with immature seminiferous tubular development. Rudimentary structures resembling epididymis were present in 2 patients, and in one of these there were also remnants suggestive of a uterus and the Fallopian tube. The disorder of androgen insensitivity is discussed with reference to pathogenesis, endocrine function, risk of malignancy in the gonads, inheritance and management.