An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
Nagoya J Med Sci
; 85(2): 362-368, 2023 May.
Article
em En
| MEDLINE
| ID: mdl-37346838
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_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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Resistência a Andrógenos
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Receptores Androgênicos
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Mutação de Sentido Incorreto
Limite:
Adult
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Child
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Nagoya J Med Sci
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Vietnã