Results 1 to 10 of about 30,131 (248)

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome [PDF]

The Surgery Journal, 2023
Phyllodes is a rare tumor found exclusively in females. It can be classified into benign, intermediate, or malignant variety based on the aggressive nature of the disease.
Aishwarya Sunil Dutt, Girish Bakhshi, Chandrakant Sabale, Ravi Landge, Sushrut Baligar, Rajalakshmi V., Madhu Jha, Sampada Joshi, Chettubattina Ravi Teja   +8 more
doaj   +5 more sources

The challenges of androgen insensitivity syndrome [PDF]

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   +3 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   +3 more sources

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli-Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review. [PDF]

J Clin Med
Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome.
Karseladze AI, Asaturova AV, Kiseleva IA, Badlaeva AS, Tregubova AV, Zaretsky AR, Uvarova EV, Zanelli M, Palicelli A.   +8 more
europepmc   +4 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   +3 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   +3 more sources

Androgen Insensitivity Syndrome [PDF]

Seminars in Reproductive Medicine, 2012
The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild
Ralf Werner, Trevor Bunch, Olaf Hiort, Ieuan A. Hughes   +3 more
  +12 more sources

Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults [PDF]

Case Reports in Radiology, 2013
Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype.
Marco Nezzo, Pieter De Visschere, Guy T'Sjoen, Steven Weyers, Geert Villeirs   +4 more
doaj   +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   +2 more sources

Molecular genetics and general management of androgen insensitivity syndrome. [PDF]

Intractable Rare Dis Res, 2023
Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development of the male reproductive system in individuals with a 46,XY karyotype.
Chen Z, Li P, Lyu Y, Wang Y, Gao K, Wang J, Lan F, Chen F.   +7 more
europepmc   +2 more sources