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Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

✍ Scribed by Uehara, Shigeki ;Tamura, Mitsutoshi ;Nata, Masayuki ;Kanetake, Jun ;Hashiyada, Masaki ;Terada, Yukihiro ;Yaegashi, Nobuo ;Funato, Tadao ;Yajima, Akira

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 37 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990910)86:2<107::aid-ajmg3>3.0.co;2-4

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✦ Synopsis

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 longarms 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. Am. J. Med. Genet. 86:107-111, 1999.

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