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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
- Source :
-
Nagoya journal of medical science [Nagoya J Med Sci] 2023 May; Vol. 85 (2), pp. 362-368. - Publication Year :
- 2023
-
Abstract
- We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping due to primary amenorrhea. Ultrasound examination revealed a small uterus. Chromosomal analysis showed a 46,XY karyotype. A polymerase chain reaction assay revealed the presence of the sex-determining region Y gene. Next-generation sequencing detected the NM&#95;000044.6( AR ):c.2170C>T(p.Pro274Ser) mutation, which was confirmed by Sanger sequencing. There is only one previous report of this mutation in a child with complete androgen insensitivity syndrome. In the family presented in this study, there were four more phenotypic adult females with primary amenorrhea and a phenotypic female infant with testes in the inguinal canals. The infant (first cousin once removed of the proband) presented with inguinal hernia/swelling in a phenotypic female and one of the four abovementioned adults had similar genetic analysis results. This is the second report of a missense mutation NM 000044.6( AR ):c.2170C>T in the world and the first study to document a pedigree consisting of several individuals with CAIS as a result of this mutation. The presence of a tiny uterus in the proband, which is a rare occurrence in complete androgen insensitivity syndrome, is a unique clinical indicator of the disorder's variable expressivity.<br />Competing Interests: The authors have no conflicts of interest to declare.
Details
- Language :
- English
- ISSN :
- 2186-3326
- Volume :
- 85
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Nagoya journal of medical science
- Publication Type :
- Report
- Accession number :
- 37346838
- Full Text :
- https://doi.org/10.18999/nagjms.85.2.362