Androgen insensitivity syndrome historical perspective: Difference between revisions
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*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 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 the first medical report on AIS was published by J. M. Morris, an american gynecologist. <ref name="pmid13057950">{{cite journal |vauthors=MORRIS JM |title=The syndrome of testicular feminization in male pseudohermaphrodites |journal=Am. J. Obstet. Gynecol. |volume=65 |issue=6 |pages=1192–1211 |year=1953 |pmid=13057950 |doi= |url=}}</ref> <ref name="pmid24293884">{{cite journal |vauthors=Deshpande H, Chaudhari S, Sharma S |title=Complete androgen insensitivity syndrome |journal=J Obstet Gynaecol India |volume=62 |issue=Suppl 1 |pages=75–7 |year=2012 |pmid=24293884 |pmc=3632692 |doi=10.1007/s13224-013-0382-6 |url=}}</ref> <ref name="pmid25191030">{{cite journal |vauthors=Ozdemir O, Sari ME, Akmut E, Selimova V, Unal T, Atalay CR |title=Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma |journal=J Hum Reprod Sci |volume=7 |issue=2 |pages=148–50 |year=2014 |pmid=25191030 |pmc=4150143 |doi=10.4103/0974-1208.138875 |url=}}</ref> | *In 1953 the first medical report on AIS was published by J. M. Morris, an american gynecologist. <ref name="pmid13057950">{{cite journal |vauthors=MORRIS JM |title=The syndrome of testicular feminization in male pseudohermaphrodites |journal=Am. J. Obstet. Gynecol. |volume=65 |issue=6 |pages=1192–1211 |year=1953 |pmid=13057950 |doi= |url=}}</ref> <ref name="pmid24293884">{{cite journal |vauthors=Deshpande H, Chaudhari S, Sharma S |title=Complete androgen insensitivity syndrome |journal=J Obstet Gynaecol India |volume=62 |issue=Suppl 1 |pages=75–7 |year=2012 |pmid=24293884 |pmc=3632692 |doi=10.1007/s13224-013-0382-6 |url=}}</ref> <ref name="pmid25191030">{{cite journal |vauthors=Ozdemir O, Sari ME, Akmut E, Selimova V, Unal T, Atalay CR |title=Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma |journal=J Hum Reprod Sci |volume=7 |issue=2 |pages=148–50 |year=2014 |pmid=25191030 |pmc=4150143 |doi=10.4103/0974-1208.138875 |url=}}</ref> | ||
*In 1989, the exact location of the human AR gene on Xq11-12 locus was determined and the proof that it is caused by mutations in this gene. <ref name="pmid23533861">{{cite journal |vauthors=Pizzo A, Laganà AS, Borrielli I, Dugo N |title=Complete androgen insensitivity syndrome: a rare case of disorder of sex development |journal=Case Rep Obstet Gynecol |volume=2013 |issue= |pages=232696 |year=2013 |pmid=23533861 |pmc=3600229 |doi=10.1155/2013/232696 |url=}}</ref> <ref name="pmid11420135">{{cite journal |vauthors=Brinkmann AO |title=Molecular basis of androgen insensitivity |journal=Mol. Cell. Endocrinol. |volume=179 |issue=1-2 |pages=105–9 |year=2001 |pmid=11420135 |doi= |url=}}</ref> <ref name="pmid2563196">{{cite journal |vauthors=Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, Willard HF |title=Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism |journal=Am. J. Hum. Genet. |volume=44 |issue=2 |pages=264–9 |year=1989 |pmid=2563196 |pmc=1715398 |doi= |url=}}</ref> | *In 1989, the exact location of the human [[Androgen receptor]] [[Androgen receptor|(]][[Androgen receptor|AR]][[Androgen receptor|)]] gene on Xq11-12 locus was determined and the proof that it is caused by mutations in this gene. <ref name="pmid23533861">{{cite journal |vauthors=Pizzo A, Laganà AS, Borrielli I, Dugo N |title=Complete androgen insensitivity syndrome: a rare case of disorder of sex development |journal=Case Rep Obstet Gynecol |volume=2013 |issue= |pages=232696 |year=2013 |pmid=23533861 |pmc=3600229 |doi=10.1155/2013/232696 |url=}}</ref> <ref name="pmid11420135">{{cite journal |vauthors=Brinkmann AO |title=Molecular basis of androgen insensitivity |journal=Mol. Cell. Endocrinol. |volume=179 |issue=1-2 |pages=105–9 |year=2001 |pmid=11420135 |doi= |url=}}</ref> <ref name="pmid2563196">{{cite journal |vauthors=Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, Willard HF |title=Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism |journal=Am. J. Hum. Genet. |volume=44 |issue=2 |pages=264–9 |year=1989 |pmid=2563196 |pmc=1715398 |doi= |url=}}</ref> | ||
*In the 1990s, patient advocacy groups also supported abandoning the term "[[testicular feminization]]" and it is now considered inaccurate, stigmatising and archaic. | *In the 1990s, patient advocacy groups also supported abandoning the term "[[testicular feminization]]" and it is now considered inaccurate, stigmatising and archaic. | ||
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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
Case reports compatible with CAIS date back to the 19th century, when hermaphroditism was the technical term for intersex conditions.
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 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]
- 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. [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.