Zobrazeno 1 - 10
of 847
pro vyhledávání: '"complete androgen insensitivity syndrome"'
Autor:
Barbara Fraccascia, Giorgio Sodero, Lucia Celeste Pane, Elena Malavolta, Caterina Gola, Luigi Pane, Valentina Filomena Paradiso, Lorenzo Nanni, Donato Rigante, Clelia Cipolla
Publikováno v:
Diseases, Vol 12, Iss 10, p 235 (2024)
Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR
Externí odkaz:
https://doaj.org/article/e643b0852bdc4d7586d1c16559260941
Autor:
De-lu Chen, Song Guo, Qiu-li Chen, Shan-jiao Qiu, Yu-ying Xu, Jun Zhang, Hua-mei Ma, Yan-hong Li
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature con
Externí odkaz:
https://doaj.org/article/1715bc9d71534b9fb9926f4c54d8426d
Autor:
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
Publikováno v:
African Journal of Urology, Vol 29, Iss 1, Pp 1-6 (2023)
Abstract 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 indivi
Externí odkaz:
https://doaj.org/article/39c7f7867dee43068d1782d9bb306971
Autor:
Anastasia Vatopoulou, Theofilos Kanavos, Fani Gkrozou, Effrosyni Birbas, Orestis Tsonis, Chara Skentou, Minas Paschopoulos
Publikováno v:
Global Pediatrics, Vol 6, Iss , Pp 100079- (2023)
Complete androgen insensitivity syndrome (CAIS) occurs in XY individuals due to androgen receptor dysfunction and presents with female phenotype and primary amenorrhea. Patients are typically raised and identify themselves as female and the absence o
Externí odkaz:
https://doaj.org/article/c3e5cabbc3664de08d138f5ae810a1b3
Akademický článek
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Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family
Externí odkaz:
https://doaj.org/article/8437038423404fa6902a91de6b358c38
Publikováno v:
National Journal of Clinical Anatomy, Vol 11, Iss 4, Pp 232-235 (2022)
Androgen receptor gene mutations on Xq12, which also have a 46XY karyotype abnormality, are the root cause of the X-linked uncommon recessive disorder of sex development known as androgen insensitivity syndrome (AIS). Complete AIS existed as a female
Externí odkaz:
https://doaj.org/article/e78bb4ec385f4a81b68dce983c8ff617
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Complete androgen insensitivity syndrome (CAIS) is a rare sex development disorder that results from X-linked androgen receptor gene mutations. Malignant transformation of the gonads is the most feared complication in postpubertal patie
Externí odkaz:
https://doaj.org/article/e5b0fdd8fb9a43b5bcdd453db9704451
Autor:
Aishwarya Sunil Dutt, Girish Bakhshi, Chandrakant Sabale, Ravi Landge, Sushrut Baligar, Rajalakshmi V., Madhu Jha, Sampada Joshi, Chettubattina Ravi Teja
Publikováno v:
The Surgery Journal, Vol 09, Iss 01, Pp e23-e27 (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. With adequate preoperative clinical assessment combined with histopathology an
Externí odkaz:
https://doaj.org/article/4054d1a40ac6490cab513f8857480893