TY  -  JOUR
AU  -  Tirrito, Laura
AU  -  Casciani, Federico
AU  -  Lomuscio, Sonia
AU  -  Nardone, Anna Maria
AU  -  Di Rosa, Cristiana
AU  -  Libotte, Francesco
AU  -  Ruta, Rosario
AU  -  Novelli, Antonio
AU  -  Rizzo, Giuseppe
AU  -  Marchionni, Enrica
AU  -  Novelli, Giuseppe
T1  -  Familial androgen insensitivity syndrome caused by the AR N706S variant: case report and systematic literature review
PY  -  2024
Y1  -  2024-09-01
DO  -  10.1723/4343.43286
JO  -  Journal of Sex- and Gender-Specific Medicine
JA  -  J Sex Gender Specif Med
VL  -  10
IS  -  3
SP  -  155
EP  -  163
PB  -  Il Pensiero Scientifico Editore
SN  -  2974-8623
Y2  -  2026/05/01
UR  -  http://dx.doi.org/10.1723/4343.43286
N2  -  Summary. Androgen insensitivity syndrome is the most common cause of disorders (or differences) of sex development in 46,XY individuals, caused by pathogenic variants in the androgen receptor gene (AR, OMIM*313700). In this report, we describe a familial case of complete androgen insensitivity syndrome (CAIS) associated to the NM_00044.6:c.2117A>G; p.Asn706Ser (N706S) variant in the AR gene. The proband is a 42-year-old woman diagnosed in her adolescence with ‘Morris syndrome’ because of primary amenorrhea and bilateral inguinal hernia; the same condition was also present in three of her sisters and in the daughter of one of her nieces. Chromosomal and molecular analysis performed in the proband revealed a 46,XY karyotype and the presence of the hemizygous N706S pathogenic variant in the AR gene, known to be associated with AIS (androgen insensitivity syndrome). Segregation analysis demonstrated the presence of the same variant in hemizygosity in one of her affected 46,XY sisters and in heterozygosity in the 46,XX niece, mother of the 46,XY affected girl. A systematic review of the current knowledge related to this variant was performed according to the PRISMA (Preferred reporting items for systematic review and meta-analysis) guidelines.
ER  -