de Quervain's syndrome
This syndrome of complete testicular feminization is the commonest form of male pseudohermaphroditism. The main clinical features are female external genitalia with underdeveloped labia and a blind-ending vagina, absence of internal female genital organs, and the presence of testes in the inguinal canal or within the abdomen. In appearance these patients present essentially normal female characteristics with average or juvenile type of breast development and normal fat deposits; however, large hands and feet are usually evident. Scanty or absent axillary, pubic and vulval hair, Raised psychologically as a female. Often inguinal hernias. Etiology is unknown.
A familial condition which can be transmitted as either an X-linked recessive trait or a sex-linked autosomal trait.
Goldberg and Maxwell in 1948 described one of these unusual cases. Morris in 1953 collected 82 cases from the literature and clearly defined the syndrome. Six additional cases were reported by Hanser and associates in 1957.
- F. de Quervain:
Ein Fall von Pseudohermaphrodismus masculinus.
Schweizerische medizinische Wochenschrift, Basel, 1923, 53: 563.
- M. B. Goldberg, A. F. Maxwell:
Male pseudohermaprhroditism proved by surgical exploration and microscopic examination. A case report with speculations concerning pathogenesis.
Journal of Clinical Endocrinology, Baltimore, 1948, 8: 367-379.
- J. M. Morris:
The syndrome of testicular feminisation in male pseudohermaphrodites.
American Journal of Obstetrics and Gynecology, St. Louis, 1953, 65: 1192-1211.