Reifenstein's syndrome

Reifenstein syndrome is similar to Klinefelter-Reifenstein-Albright syndrome (aspermatogenesis-gynaecomastia syndrome) but the XY chromosome pattern is normal. It is a male pseudohermaphroditism marked by deficiency of androgen receptors, hypospadias, hypogonadism and gynaecomastia. The affected males are sterile, but germ cells with mitotic activity are present in the testes. It is a familial condition probably transmitted as an X-linked recessive trait.

Reifenstein described the syndrome in 1947 while working with Fuller Albright, who in 1942 had developed the concept of peripheral hormone resistance. The same condition was reported in 1957, in the French literature by Gilbert-Dreyfus. Bowen and colleagues in 1965 used Reifenstein's eponym in conjunction with the phrase "hereditary male pseudohermaphroditism" when they documented the phenotypic features of affected males in a large family. In 1974 Wilson and colleagues restudied the same family and designated the condition "familial incomplete male pseudohermaphroditism type I, Reifenstein syndrome", in order to distinguish this X-linked disorder from "type II", which is an autosomal recessive trait. The title "partial androgen insensitivity" was introduced in 1979 by Aiman and colleagues, in conjunction with the eponym.

• E. C. Reifenstein jr:
  Hereditary familial hypogonadism.
  Journal of Clinical Endocrinology, Baltimore, 1945, 5: 367. Hereditary familial hypogonadism.
  Proceedings of the American Federation for Clinical research, 1947, 3: 86. Hereditary familial hypogonadism.
  Recent Progress in Hormone Research, 1948, 3: 324.
• S. Gilbert-Dreyfus, C. A. Sebaoun, J. Belaisch:
  Étude d'un cas familial d'androgynisme avec hypospadias grave, gynecomastie et hyperoestrogenie.
  Annales d’endocrinologie, Paris, 1957, 18: 93-101.
• P. Bowen, C.N.S. Lee, C. J. Migeon, N. M. Kaplan, P. J. Whalley, V. A. McKusick, E. C. Reifenstein:
  Hereditary male pseudohermaphroditism with hypogonadism, hypospadias and gynecomastia: Reifenstein's syndrome.
  Annals of Internal Medicine, Philadelphia, 1965, 62: 252-270.
• J. D. Wilson, M. J. Harrod, J. L. Goldstein, D. L. Hemsell, P. C. MacDonald:
  Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein Syndrome.
  New England Journal of Medicine, Boston, 1974, 290: 1097-1103.
• J. Aiman, J. E. Griffin, J. M. Gazak, J. D. Wilson, P. C. MacDonald:
  Androgen insensitivity as a cause of infertility in otherwise normal men.
  New England Journal of Medicine, Boston, 1979, 300: 223-227.