Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019 Dec;163(4):379-382. doi: 10.5507/bp.2018.067. Epub 2018 Nov 6.

Abstract

Background: The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome X. These children are born with female external genitalia, and females are transmitters.

Case report: We illustrate an unexpected diagnosis of CAIS in two siblings during examination for short stature, and describe transmission/carriers in the family along with ethical aspects.

Conclusion: A genetic examination could have earlier revealed the transmission of c.2495G>Tp.(Arg832Leu) mutation in exon 7. Our experience highlights the possibility of prenatal testing for the management of pregnancy in a family with a history of CAIS. The implications of prenatal testing in relation to CAIS with clearer explication of ethical and clinical issues warrant further investigation.

Keywords: androgen insensitivity syndrome; chromosome X; ethics; prenatal testing; transmission of the disease.

Publication types

  • Case Reports

MeSH terms

  • Androgen-Insensitivity Syndrome / diagnosis*
  • Androgen-Insensitivity Syndrome / genetics*
  • Androgen-Insensitivity Syndrome / physiopathology
  • Disorders of Sex Development / diagnosis*
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / physiopathology
  • Female
  • Fetal Development / genetics*
  • Gene Transfer, Horizontal*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation
  • Receptors, Androgen / genetics*

Substances

  • Receptors, Androgen