title: Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome.
abstract: We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and one in exon E. Microsatellite marker analysis showed that the patient is homozygous for all five Xq loci examined. The results suggest that the long-arms of the two X chromosomes are identical, i.e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual.
authors.affiliation: Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan. uehara@ob-gy.med.tohoku.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Uehara
authors.forename: M
authors.initials: M
authors.lastname: Tamura
authors.forename: M
authors.initials: M
authors.lastname: Nata
authors.forename: J
authors.initials: J
authors.lastname: Kanetake
authors.forename: M
authors.initials: M
authors.lastname: Hashiyada
authors.forename: Y
authors.initials: Y
authors.lastname: Terada
authors.forename: N
authors.initials: N
authors.lastname: Yaegashi
authors.forename: T
authors.initials: T
authors.lastname: Funato
authors.forename: A
authors.initials: A
authors.lastname: Yajima
mesh_terms: D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D000782:Aneuploidy; D001483:Base Sequence; D001667:Binding, Competitive; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D011869:Radioligand Assay; D011944:Receptors, Androgen / Q000235:genetics / Q000378:metabolism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen