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: Aravind Reddy Kothagadi M.B.B.S[2]
Overview
In 1953 the first medical report on AIS was published by J. M. Morris, an american gynecologist.
Historical Perspective
- In 1953 the first medical report on AIS was published by J. M. Morris, an american gynecologist. [1] [2] [3]
- In 1989, the exact location of the human Androgen receptor (AR) gene on Xq11-12 locus was determined and the proof that it is caused by mutations in this gene. [4] [5] [6]
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. [7]
References
- ↑ MORRIS JM (1953). "The syndrome of testicular feminization in male pseudohermaphrodites". Am. J. Obstet. Gynecol. 65 (6): 1192–1211. PMID 13057950.
- ↑ Deshpande H, Chaudhari S, Sharma S (2012). "Complete androgen insensitivity syndrome". J Obstet Gynaecol India. 62 (Suppl 1): 75–7. doi:10.1007/s13224-013-0382-6. PMC 3632692. PMID 24293884.
- ↑ Ozdemir O, Sari ME, Akmut E, Selimova V, Unal T, Atalay CR (2014). "Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma". J Hum Reprod Sci. 7 (2): 148–50. doi:10.4103/0974-1208.138875. PMC 4150143. PMID 25191030.
- ↑ Pizzo A, Laganà AS, Borrielli I, Dugo N (2013). "Complete androgen insensitivity syndrome: a rare case of disorder of sex development". Case Rep Obstet Gynecol. 2013: 232696. doi:10.1155/2013/232696. PMC 3600229. PMID 23533861.
- ↑ Brinkmann AO (2001). "Molecular basis of androgen insensitivity". Mol. Cell. Endocrinol. 179 (1–2): 105–9. PMID 11420135.
- ↑ Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, Willard HF (1989). "Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism". Am. J. Hum. Genet. 44 (2): 264–9. PMC 1715398. PMID 2563196.
- ↑ 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.