RESUMO
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.
Assuntos
Síndrome de Resistência a Andrógenos , Mutação de Sentido Incorreto , Receptores Androgênicos , Adulto , Criança , Feminino , Humanos , Lactente , Masculino , Amenorreia/genética , Síndrome de Resistência a Andrógenos/genética , Cariótipo , Mutação de Sentido Incorreto/genética , Fenótipo , Receptores Androgênicos/genética , Proteína da Região Y Determinante do Sexo , População do Sudeste Asiático/genéticaRESUMO
Urocytogramme was made for study on 97 female pediatric children at the Pediatric Endocrinology Department of Renne Centre of Hospital and University – France. 49 cases were determined as early puberty and 48 cases were not puberty. Girl with the early development of breast, with or without other pubertal signs, having an urocytogramme of stimulated form of IK>6, IK>3, number of surface cells S>6 was determined as true early puberty. The examination was easy to make with low cost, no blood taken, the girl had not to hospitalize.
