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

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

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 ge...

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Bibliographic Details
Main Authors: Renata Pomahacova, Jana Zamboryova, Petra Paterova, Anna Krepelova, Ivan Subrt, Radka Jaklova, Petra Vohradska, Eliska Hrdonkova, Josef Sykora
Format: Article
Language:English
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2019-12-01
Series:Biomedical Papers
Subjects:
androgen insensitivity syndrome
chromosome x
transmission of the disease
prenatal testing
ethics
Online Access:https://biomed.papers.upol.cz/artkey/bio-201904-0015_late-diagnosis-of-complete-androgen-insensitivity-syndrome-and-transmission-carriers-of-the-condition-in-a-fami.php

Internet

https://biomed.papers.upol.cz/artkey/bio-201904-0015_late-diagnosis-of-complete-androgen-insensitivity-syndrome-and-transmission-carriers-of-the-condition-in-a-fami.php

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