Correction to "Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation". [PDF]
Clin Case RepClinical Case Reports, Volume 14, Issue 7, July 2026.
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A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care [PDF]
Journal of International Medical ResearchComplete androgen insensitivity syndrome is a rare 46,XY disorder of sex development caused by mutations in the androgen receptor gene, resulting in androgen resistance despite a normal male karyotype.
Hai-Yan Sun +3 more
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Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature [PDF]
Journal of Medical Case ReportsBackground Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins.
Kangji Liao, Ying Wang, Xianlin Yi
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Complete androgen insensitivity syndrome: a case report and literature review [PDF]
Journal of International Medical Research, 2023 Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia.
Min Guo +3 more
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Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome. [PDF]
Front Endocrinol (Lausanne)Wang C, Tian Q.
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An Early Case of Complete Androgen Insensitivity Syndrome [PDF]
Journal of Investigative Medicine High Impact Case Reports, 2023 Inguinal hernias are rare in female infants, and when present, there is an increased incidence of androgen insensitivity in these infants. We present a case of bilateral inguinal hernias in a 26-day-old full-term phenotypic female.
Leen Matalka MD +3 more
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Complete androgen insensitivity syndrome with cryptorchid sertoli cell tumor: a case report and literature review. [PDF]
Front Med (Lausanne)Wang Y +5 more
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Complete Androgen Insensitivity Syndrome: Role of Imaging for Diagnosis [PDF]
Indian Journal of Radiology and ImagingAndrogen insensitivity syndrome (AIS) is a rare disorder of sexual differentiation, characterized by impaired responsiveness to androgens, resulting in the development of typically female external genitalia, despite having a male chromosomal pattern (XY).
Ravina Ravina +2 more
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Persistent Müllerian structures in an infant with complete androgen insensitivity syndrome. [PDF]
JCEM Case RepVidmar KK +2 more
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Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism. [PDF]
Front PediatrWang W, Jiao Y, Xiu Y, Wang J, Hu Y.
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