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A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series [PDF]

Clinical Case Reports
Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings.
Tayyeb Ali, Muhammad Hassaan Javaid, Sibgha Fawad Memon, Zauha Fawad Memon, Munazza Iqbal, Sadia Afridi, Abdul Rahim Soroush, Adnan Iqbal Khan, Naseer Ahmad, Nayab Ayub Afridi, Zuhaib Ali   +10 more
doaj   +3 more sources

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome [PDF]

Asian Journal of Andrology
Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor (AR) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus.
Xu Wen, Li-Jun Fan, Pei Liu, Jian-Han Shi, Wei-Ping Zhang, Xin Ni, Chun-Xiu Gong   +6 more
doaj   +2 more sources

Correction to "Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation". [PDF]

Clin Case Rep
Clinical Case Reports, Volume 14, Issue 7, July 2026.
europepmc   +2 more sources

Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background 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
doaj   +2 more sources

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 Research
Complete 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, Xu Wang, Li-Xian Wang, Hui Zhang   +3 more
doaj   +2 more sources

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia—A Case Report of the Coexistence of Two Rare Diseases in One Patient [PDF]

Reports
Background and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS)
Mariola Krzyścin, Agnieszka Brodowska, Gabriela Furtak, Dominika Pietrzyk, Katarzyna Zając, Bartosz Oder, Adam Przepiera, Elżbieta Sowińska-Przepiera   +7 more
doaj   +2 more sources

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing [PDF]

The Application of Clinical Genetics
Tadeusz Kałużewski,1,2 Iwona Pinkier,1 Urszula Wysocka,1 Jordan Sałamunia,2 Łukasz Kępczyński,1,2 Małgorzata Piotrowicz,1 Bogdan Kałużewski,2 Agnieszka Gach1 1Department of Genetics, Polish Mother’
Kałużewski T, Pinkier I, Wysocka U, Sałamunia J, Kępczyński Ł, Piotrowicz M, Kałużewski B, Gach A   +7 more
doaj   +2 more sources

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report [PDF]

Radiology Case Reports
Morris syndrome, also known as Complete Androgen Insensitivity Syndrome (CAIS), is a rare genetic disorder of sex development characterized by a 46, XY karyotype with female external genitalia due to androgen receptor mutations. We present a case of a 15-
Fariha Zerin, MBBS, Tushar Kanti Bhadra, MBBS, Raidah Sadia, MBBS, Zahin Shahriar, MBBS   +3 more
doaj   +2 more sources

The challenges of androgen insensitivity syndrome

Archives of Medical Science, 2021
Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients.
Bratu Ovidiu, Dragos R. Marcu, Dan L. D. Mischianu, Catalina Poiana, Camelia C. Diaconu, Simona G. Bungau, Delia M. Tit, Alin Cumpanas, Roxana Bohiltea   +8 more
doaj   +1 more source

Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report

Journal of Medical Case Reports, 2021
Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete ...
Stephanie Farah, Dana El Masri, Kamal Hirbli   +2 more
doaj   +1 more source