title: Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree.
abstract: BACKGROUND
  Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile).
  
  
  METHODS
  In this paper, we report three cases of familial complete androgen insensitivity syndrome who presented with primary amenorrhea.
  
  
  RESULTS
  Physical examination, ultrasonography studies, and biochemical, karyotype, and molecular cytogenetic analyses were conducted. Based on the findings, they were diagnosed and confirmed as having complete androgen insensitivity syndrome.
  
  
  CONCLUSIONS
  A multidisciplinary team is needed from disclosure of the diagnosis, gender assignment, surgical management, hormonal replacement therapy, to counseling and support.
authors.affiliation: Center for Genetic Studies & Research, The Madras Medical Mission, Chennai, India.
authors.forename: Bibhas
authors.initials: B
authors.lastname: Kar
authors.affiliation: Center for Genetic Studies & Research, The Madras Medical Mission, Chennai, India.
authors.forename: Subbiah
authors.initials: S
authors.lastname: Sivamani
authors.affiliation: Institute of Reproductive Medicine and Woman Health, The Madras Medical Mission, Chennai, India.
authors.forename: Shankar
authors.initials: S
authors.lastname: Kundavi
authors.affiliation: Institute of Reproductive Medicine and Woman Health, The Madras Medical Mission, Chennai, India.
authors.forename: Thankam Rama
authors.initials: TR
authors.lastname: Varma
keywords: 46,XY karyotype; Androgen insensitivity syndrome; Androgen receptor gene; Mutation; X-linked recessive disorder