Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype

C M Girardin; C Deal; E Lemyre; J Paquette; R Lumbroso; L K Beitel; M A Trifiro; G Van Vliet

doi:10.1016/j.jpeds.2009.02.052

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype

J Pediatr. 2009 Sep;155(3):439-43. doi: 10.1016/j.jpeds.2009.02.052.

Authors

C M Girardin¹, C Deal, E Lemyre, J Paquette, R Lumbroso, L K Beitel, M A Trifiro, G Van Vliet

Affiliation

¹ Endocrinology, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.

PMID: 19732585
DOI: 10.1016/j.jpeds.2009.02.052

Abstract

A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. Partial maternal X isodisomy explained the expression of androgen insensitivity despite the presence of 2 X chromosomes.

Publication types

Case Reports

MeSH terms

Androgen-Insensitivity Syndrome / diagnosis
Androgen-Insensitivity Syndrome / genetics*
Base Sequence
Child, Preschool
Chromosomes, Human, X / genetics*
DNA / genetics
Female
Genetic Carrier Screening / methods
Humans
Karyotyping
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Genetic
Receptors, Androgen / genetics
Sex Chromosome Disorders / diagnosis
Sex Chromosome Disorders / genetics*

Substances

Receptors, Androgen
DNA