Results 1 to 10 of about 10,976 (162)

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 [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2015
Introduction. Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed ...
Tančić-Gajić Milina, Vujović Svetlana, Ivović Miomira, Marina Ljiljana V., Arizanović Zorana, Raković Dragana, Micić Dragan   +6 more
doaj   +3 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

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   +2 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
Hughes, Ieuan, Werner, Ralf, Bunch, Trevor, Hiort, Olaf   +3 more
  +10 more sources