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Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Kolodkina A.A.

FGU ÉNTs

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Somatic mutations in the androgen receptor gene as the cause of androgen insensitivity syndrome

Authors:

Kalinchenko N.Iu., Kolodkina A.A., Petrov V.M., Vasil’eva E.V., Tiul'pakov A.N.

More about the authors

Journal: Problems of Endocrinology. 2019;65(4): 268‑272

Read: 2453 times


To cite this article:

Kalinchenko NIu, Kolodkina AA, Petrov VM, Vasil’eva EV, Tiul'pakov AN. Somatic mutations in the androgen receptor gene as the cause of androgen insensitivity syndrome. Problems of Endocrinology. 2019;65(4):268‑272. (In Russ.)
https://doi.org/10.14341/probl10166

References:

  1. Bangsboll S, Qvist I, Lebech PE, Lewinsky M. Testicular feminization syndrome and associated gonadal tumors in Denmark. Acta Obstet Gynecol Scand. 1992;71(1):63–66. https://doi.org/10.3109/0001634920900795
  2. Gottlieb B, Lombroso R, Beitel LK, Trifiro MA. Molecular pathology of the androgen receptor in male (in)fertility. Reprod Biomed Online. 2005;10(1):42–48. https://doi.org/10.1016/s1472-6483(10)60802-4
  3. Hughes IA, Werner R, Bunch T, Hiort O. Androgen insensitivity syndrome. Semin Reprod Med. 2012;30(5):432–442. https://doi.org/10.1055/s-0032-1324728
  4. Gottlieb B, Beitel LK, Trifiro MA. Somatic mosaicism and variable expressivity. Trends Genet. 2001;17(2):79–82. https://doi.org/10.1016/s0168-9525(00)02178-8
  5. Hiort O, Sinnecker GH, Holterhus PM, et al. Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J Pediatrics. 1998;132(6):939–943. https://doi.org/10.1016/s0022-3476(98)70387-7
  6. Lubahn DB, Brown TR, Simental JA, et al. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA. 1989;86(23):9534–9538. https://doi.org/10.1073/pnas.86.23.9534
  7. Hiort O, Huang Q, Sinnecker GH, et al. Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. J Clin Endocrinol Metab. 1993;77(1):262–266. https://doi.org/10.1210/jcem.77.1.8325950
  8. Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int J Gynecol Pathol. 1991;10(2):126–144. https://doi.org/10.1097/00004347-199104000-00002
  9. Quigley CA, De Bellis A, Marschke KB, et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16(3):271–321. https://doi.org/10.1210/edrv-16-3-271
  10. Boehmer AL, Brinkmann AO, Niermeijer MF, et al. Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Am J Hum Genet. 1997;60(4):1003–1006.
  11. Kohler B, Lumbroso S, Leger J, et al. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. J Clin Endocrinol Metab. 2005;90(1):106–111. https://doi.org/10.1210/jc.2004-0462

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