RT Journal Article
SR Electronic
A1 Pomahacova, Renata
A1 Zamboryova, Jana
A1 Paterova, Petra
A1 Krepelova, Anna
A1 Subrt, Ivan
A1 Jaklova, Radka
A1 Vohradska, Petra
A1 Hrdonkova, Eliska
A1 Sykora, Josef
T1 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
JF Biomedical papers
YR 2019
VO 163
IS 4
SP 379
OP 382
DO 10.5507/bp.2018.067
UL https://biomed.papers.upol.cz/artkey/bio-201904-0015.php
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.