scholarly journals Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome

2012 ◽  
Vol 39 (2) ◽  
pp. 242-244 ◽  
Author(s):  
K. G. Sharbidre ◽  
A. Nawale ◽  
R. Hegde ◽  
A. Komwad ◽  
A. Rathi
Keyword(s):  
Rare Case ◽  
Testicular Torsion ◽  
Androgen Insensitivity Syndrome ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Ultrasound Findings

scholarly journals Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Alfonsa Pizzo ◽  
Antonio Simone Laganà ◽  
Irene Borrielli ◽  
Nella Dugo
Keyword(s):  
Rare Case ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
The Body ◽  
Normal Female ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Sex Development ◽  
Androgen Resistance ◽  
Female External Genitalia

Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a variety of phenotypes ranging from male infertility to completely normal female external genitalia. The clinical phenotypes of AIS could vary and be classified into three categories, as complete (CAIS), partial (PAIS), and mild (MAIS) forms, according to the severity of androgen resistance. We will describe a case of CAIS in a 16-year-old patient.

scholarly journals Complete androgen insensitivity syndrome – a rare case report

2013 ◽  
Vol 4 (10) ◽  
pp. 760
Author(s):  
Mayur Bhikulal Agrawal ◽  
S. N Jajoo ◽  
Yogesh Taneja ◽  
S. I Bagasrawala ◽  
Nilesh Tulaskar
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Androgen Insensitivity Syndrome ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Rare Case Report

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes

2014 ◽  
Vol 40 (9) ◽  
pp. 2044-2050 ◽  
Author(s):  
Zhou Wang ◽  
Ying-Long Sa ◽  
Xu-Xiao Ye ◽  
Jiong Zhang ◽  
Yue-min Xu
Keyword(s):  
Androgen Insensitivity Syndrome ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity
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