Results 11 to 20 of about 5,072 (157)

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

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +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

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, S. Joy Dean MD, Giovanna Beauchamp MD, Bhuvana Sunil MD   +3 more
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

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

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

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome [PDF]

Scientific Reports
Androgen insensitivity syndrome (AIS) is a difference of sex development (DSD) characterized by different degrees of undervirilization in individuals with a 46,XY karyotype despite normal to high gonadal testosterone production.
Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A. Verrijn Stuart, Jacques C. Giltay, Koen L. van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C. Hornig   +14 more
doaj   +2 more sources

Androgen insensitivity syndrome

Current Opinion in Endocrinology, Diabetes & Obesity, 2014
Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS.
Rieko, Tadokoro-Cuccaro, Ieuan A, Hughes
  +5 more sources

Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman: a case report

African Journal of Urology, 2023
Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development that results from mutations in the androgen receptors leading to failure of normal masculinization of the external genitalia in genetically male individuals.
Mumini Wemimo Rasheed, Najeem Adedamola Idowu, Adebayo Ayoade Adekunle, Joseph Olusola Olarewaju, Latifat Tunrayo Oduola-owoo, Foluke Omolara Odetayo, Felix Abiodun Omolade, Akinremi Tosin Opeyemi   +7 more
doaj   +1 more source