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.
androgen insensitivity syndrome
chromosome X
ethics
prenatal testing
transmission of the disease
Journal
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
ISSN: 1804-7521
Titre abrégé: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
Pays: Czech Republic
ID NLM: 101140142
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
12
06
2018
accepted:
17
10
2018
pubmed:
8
11
2018
medline:
9
6
2020
entrez:
8
11
2018
Statut:
ppublish
Résumé
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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Substances chimiques
Receptors, Androgen
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM