Complete Androgen Insensitivity Syndrome and Literature Review

  • Mauricio Giusti Calderon Hospital Municipal Dr. Moysés Deutsch – M’Boi Mirim – Departamento de Cirurgia Pediátrica – São Paulo/ Laboratório de Delineamento de Estudos e Escrita Científica, Centro Universitário Saúde ABC - Santo André, SP
  • Carolina Maria Barbosa Lemos Universidade Anhembi Morumbi – São Paulo, SP
  • Mariana Drigo Alem Universidade Anhembi Morumbi – São Paulo, SP
  • Thais Cristina Pinelli Universidade Anhembi Morumbi – São Paulo, SP
  • Rodrigo Daminello Raimundo Laboratório de Delineamento de Estudos e Escrita Científica, Centro Universitário Saúde ABC - Santo André, SP
Keywords: androgen-insensitivity syndrome, dihydrotestosterone receptor deficiency, sex differentiation disorders, hernia, child

Abstract

Backgroung: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as “testicular feminization”. It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. The main clinical presentation in childhood is the presence of bilateral inguinal hernia in phenotypically female subjects. Incidence of androgen  insensitivity syndrome in phenotypically females with inguinal hernia is estimated in 0.8% to 2.4%. This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. Case Summary: We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. Conclusion: Investigation of CAIS should be standard in prepubertal girls with bilateral inguinal hernia, genetic techniques involving X chromatin or Y chromosome tests present the best choices.

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Published
2019-11-05
Section
ORIGINAL ARTICLES