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 Androgen insensitivity syndrome (AIS) was published by J. M. Morris, an American gynecologist. 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.

Historical Perspective

  • In 1953, the first medical report on Androgen insensitivity syndrome (AIS) was published by J. M. Morris, an American gynecologist.[1][2][3][4][5]
  • Until the late 1950s, Morris' approach to non-disclosure was consonant with the prevailing medicolegal and ethical climate.[4]
  • In 1988, Minogue and Taraszewski argued that the condition of the patient could not be revealed if the clinician felt that the patient or the patient's family weren't in a state to handle the truth about the patient's condition.[6][4]
  • 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.[7][8][9]
  • Until the 1990s, revealing the genotype in CAIS after diagnosis was common. [4]
  • In 1992, Shah argued that disclosing the genotype is not much relevant to care and as it may be confusing to patient and family.[4]
  • In 1997, Weiner et al expressed his opinion that it was a complex situation whether to tell a patient about her genetic make-up or not as it was questionable topic to deal with. [10]

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 (complete androgen insensitivity syndrome) or PAIS (partial androgen insensitivity syndrome). 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. [11]

References

  1. MORRIS JM (1953). "The syndrome of testicular feminization in male pseudohermaphrodites". Am. J. Obstet. Gynecol. 65 (6): 1192–1211. PMID 13057950.
  2. 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.
  3. 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.
  4. 4.0 4.1 4.2 4.3 4.4 Conn J, Gillam L, Conway GS (2005). "Revealing the diagnosis of androgen insensitivity syndrome in adulthood". BMJ. 331 (7517): 628–30. doi:10.1136/bmj.331.7517.628. PMC 1215563. PMID 16166136.
  5. Bhaskararao G, Himabindu Y, Nayak SR, Sriharibabu M (2014). "Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome". J Hum Reprod Sci. 7 (3): 221–3. doi:10.4103/0974-1208.142498. PMC 4229800. PMID 25395750.
  6. Minogue BP, Taraszewski R, Elias S, Annas GJ (1988). "The whole truth and nothing but the truth?". Hastings Cent Rep. 18 (5): 34–6. PMID 3225190.
  7. 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.
  8. Brinkmann AO (2001). "Molecular basis of androgen insensitivity". Mol. Cell. Endocrinol. 179 (1–2): 105–9. PMID 11420135.
  9. 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.
  10. Wiener JS, Teague JL, Roth DR, Gonzales ET, Lamb DJ (1997). "Molecular biology and function of the androgen receptor in genital development". J. Urol. 157 (4): 1377–86. PMID 9120959.
  11. 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.



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