Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome.

Adolescent Androgen-Insensitivity Syndrome / genetics Codon, Nonsense / genetics Female Humans Male Mutation Receptors, Androgen / genetics Testosterone / metabolism
46,XY female AR gene Androgen insensitivity syndrome Disorder of sexual development

Journal

Journal of pediatric and adolescent gynecology
ISSN: 1873-4332
Titre abrégé: J Pediatr Adolesc Gynecol
Pays: United States
ID NLM: 9610774

Informations de publication

Date de publication:
Dec 2019
Historique:
received: 17 06 2019
revised: 31 07 2019
accepted: 05 08 2019
pubmed: 12 8 2019
medline: 10 3 2020
entrez: 12 8 2019
Statut: ppublish

Résumé

Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5α-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the AR are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene. Our present report describes a female patient with 46,XY karyotype and normal female external genitalia. A novel de novo c.1669_1670insC insertion in the AR gene caused androgen insensitivity syndrome. This report provides a detailed clinical characterization of the patient and a possible pathogenic mechanism leading to androgen insensitivity syndrome and should be particularly useful in genetic counseling.

Sections du résumé

BACKGROUND BACKGROUND
Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5α-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the AR are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene.
CASE METHODS
Our present report describes a female patient with 46,XY karyotype and normal female external genitalia. A novel de novo c.1669_1670insC insertion in the AR gene caused androgen insensitivity syndrome.
SUMMARY AND CONCLUSION CONCLUSIONS
This report provides a detailed clinical characterization of the patient and a possible pathogenic mechanism leading to androgen insensitivity syndrome and should be particularly useful in genetic counseling.

Identifiants

DOI: 10.1016/j.jpag.2019.08.001 PMID: 31401253
pubmed: 31401253
pii: S1083-3188(19)30257-8
doi: 10.1016/j.jpag.2019.08.001
pii:
doi:

Substances chimiques

AR protein, human 0
Codon, Nonsense 0
Receptors, Androgen 0
Testosterone 3XMK78S47O

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

641-644

Informations de copyright

Copyright © 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Auteurs

Laura Pranckėnienė (L)

Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania. Electronic address: laura.pranckeniene@mf.vu.lt.

Žana Bumbulienė (Ž)

Faculty of Medicine, Clinic of Obstetrics and Gynecology, Institute of Clinical Medicine, Vilnius University, Vilnius, Lithuania.

Darius Dasevičius (D)

National Center of Pathology, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.

Algirdas Utkus (A)

Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania; Centre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.

Vaidutis Kučinskas (V)

Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

Eglė Preikšaitienė (E)

Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania; Centre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Novel Androgen Receptor Gene Variant...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Troubles du développement sexuel › Troubles du développement sexuel de sujets 46, XY › Syndrome d'insensibilité aux androgènes › Novel Androgen Receptor Gene Variant...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Codon non-sens › Novel Androgen Receptor Gene Variant...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Novel Androgen Receptor Gene Variant...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Novel Androgen Receptor Gene Variant...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Récepteurs cytoplasmiques et nucléaires › Récepteurs aux androgènes › Novel Androgen Receptor Gene Variant...
questionsmedicales.fr › Hormones gonadiques › Hormones sexuelles stéroïdiennes › Congénères de la testostérone › Testostérone › Novel Androgen Receptor Gene Variant...