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Journal of Investigative Surgery Volume 34, 2021 - Issue 2
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Commentary

Complete Androgen Insensitivity in Girls with Inguinal Hernias: A Serendipity Opportunity for Early Diagnosis

Rafael Loch BatistaHospital das Clínicas da Universidade de São Paulo, Endocrinology Unit, Laboratório de Investigações Médicas LIM/42, HCFMUSP, São Paulo/SP, Brazil; ;Instituto de Psiquiatria HCFMUSP, São Paulo/SP, BrazilCorrespondence[email protected]
Pages 234-235 | Published online: 09 Aug 2019

References

  • Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD). Clin Endocrinol. (Oxf). 2009;70(2):173–187. doi: 10.1111/j.1365-2265.2008.03392.x.
  • Batista RL, Costa EMF, Rodrigues AS, et al. Androgen insensitivity syndrome: a review. Arch Endocrinol Metab. 2018;62(2):227–235. doi: 10.20945/2359-3997000000031.
  • Gottlieb B, Beitel LK, Nadarajah A, Paliouras M, Trifiro M. The androgen receptor gene mutations database: 2012 update. Hum Mutat. 2012;33(5):887–894. doi: 10.1002/humu.22046.
  • Batista RL, di Santi Rodrigues A, Nishi MY, et al. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. J Steroid Biochem Mol Biol. 2017;174:14–16. doi: 10.1016/j.jsbmb.2017.07.020.
  • Hornig NC, de Beaufort C, Denzer F, et al. A recurrent germline mutation in the 5'UTR of the androgen receptor causes complete androgen insensitivity by activating aberrant uORF translation. PLoS One. 2016;11(4):e0154158. doi: 10.1371/journal.pone.0154158.
  • Batista RL, Rodrigues AS, Machado AZ, et al. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. J Pediatr Endocrinol Metab. 2018;31(2):223–228. doi: 10.1515/jpem-2017-0095.
  • Hornig NC, Ukat M, Schweikert HU, et al. Identification of an AR mutation-negative class of androgen insensitivity by determining endogenous AR activity. J Clin Endocrinol Metab. 2016;101(11):4468–4477. doi: 10.1210/jc.2016-1990.
  • Morris JM. The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol. 1953;65(6):1192–1211.
  • Guercio G, Costanzo M, Grinspon RP, Rey RA. Fertility issues in disorders of sex development. Endocrinol Metab Clin North Am. 2015;44(4):867–881. doi: 10.1016/j.ecl.2015.07.012.
  • Listyasari NA, Robevska G, Santosa A, et al. Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. J Invest Surg. 2021;34(2):227–233.

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