PT  - JOURNAL ARTICLE
AU  - Pomahacova, Renata
AU  - Zamboryova, Jana
AU  - Paterova, Petra
AU  - Krepelova, Anna
AU  - Subrt, Ivan
AU  - Jaklova, Radka
AU  - Vohradska, Petra
AU  - Hrdonkova, Eliska
AU  - Sykora, Josef
TI  - 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
DP  - 2019 Dec 11
TA  - Biomedical papers
PG  - 379--382
VI  - 163
IP  - 4
AID - 10.5507/bp.2018.067
IS  - 12138118
AB  - 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.