Androgen insensitivity syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Historical Perspective
Case reports compatible with CAIS date back to the 19th century, when hermaphroditism was the technical term for intersex conditions. In 1950, Lawson Wilkins hypothesized that this condition might be explained by resistance to testosterone but hormones could not be easily measured, and even chromosomes were just beginning to be understood. In 1953 J.C. Morris suggested the term testicular feminization, and by 1963 most of the essential pathophysiology of complete AIS was suspected. However, as the relationship with the partial forms became worked out in the 1980s, physicians began to prefer the less confusing and more comprehensive term androgen insensitivity. In the 1990s, patient advocacy groups also supported abandoning the term "testicular feminization," and it is now considered inaccurate, stigmatising and archaic.
Reifenstein syndrome
One might fairly call Reifenstein syndrome "even more partial" AIS, but when E.C. Reifenstein described the features of a new syndrome of male "familial hypogonadism" in 1947, it was not known that this condition was due to an abnormal androgen receptor and related to the female conditions of CAIS or PAIS. Additional familial intersex and hypogonadal conditions described by Lubs, Gilbert, Dreyfus, Rosewater, Walker, and others are now considered variants of the Reifenstein syndrome form of AIS. [1]
References
- ↑ Amrhein JA, Klingensmith GJ, Walsh PC, McKusick VA, Migeon CJ (1977). "Partial androgen insensitivity: the Reifenstein syndrome revisited". N Engl J Med. 297 (7): 350–6. doi:10.1056/NEJM197708182970703. PMID 876326.