Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):379-382 | DOI: 10.5507/bp.2018.067

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

Renata Pomahacovaa, Jana Zamboryovaa, Petra Paterovaa, Anna Krepelovab, Ivan Subrtc, Radka Jaklovac, Petra Vohradskac, Eliska Hrdonkovad, Josef Sykora
a Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic
b Department of Biology and Medical Genetics, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic
c Institute of Medical Genetics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic
d Department of Gynecology, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic

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, transmission of the disease, prenatal testing, ethics

Received: June 12, 2018; Revised: October 17, 2018; Accepted: October 17, 2018; Prepublished online: November 6, 2018; Published: December 11, 2019  Show citation

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Pomahacova, R., Zamboryova, J., Paterova, P., Krepelova, A., Subrt, I., Jaklova, R., ... Sykora, J. (2019). 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. Biomedical papers, 163(4), 379-382. doi: 10.5507/bp.2018.067
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