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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.

Authors
  • Pomahacova, Renata1
  • Zamboryova, Jana1
  • Paterova, Petra1
  • Krepelova, Anna2
  • Subrt, Ivan3
  • Jaklova, Radka3
  • Vohradska, Petra3
  • Hrdonkova, Eliska4
  • Sykora, Josef
  • 1 Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic. , (Czechia)
  • 2 Department of Biology and Medical Genetics, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic. , (Czechia)
  • 3 Institute of Medical Genetics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic. , (Czechia)
  • 4 Department of Gynecology, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic. , (Czechia)
Type
Published Article
Journal
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Publication Date
Dec 01, 2019
Volume
163
Issue
4
Pages
379–382
Identifiers
DOI: 10.5507/bp.2018.067
PMID: 30401990
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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. 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. 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.

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