| Full text | |
| Author(s): |
Batista, Rafael L.
;
Rodrigues, Andresa S.
;
Nishi, Mirian Y.
;
Feitosa, Alina C. R.
;
Gomes, Nathalia L. R. A.
;
Junior, Jose Antonia F.
;
Domenice, Sorahia
;
Costa, Elaine M. F.
;
de Mendonca, Berenice B.
Total Authors: 9
|
| Document type: | Journal article |
| Source: | SEXUAL DEVELOPMENT; v. 11, n. 2, p. 78-81, 2017. |
| Web of Science Citations: | 4 |
| Abstract | |
There are only 2 patients with 47, XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47, XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys{*}32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X-inactivation of the healthy allele. This is the first report of a female patient with 47, XXY karyotype and PAIS phenotype. (C) 2017 S.Karger AG, Basel (AU) | |
| FAPESP's process: | 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |