Androjen Duyarsızlık Sendromu ve Skrotal Hipoplazi
Özet
Bu bölüm, 46,XY karyotipine sahip bireylerde erkeklik gelişiminin bozulmasıyla karakterize edilen, X bağlantılı genetik bir bozukluk olan Androjen Duyarsızlık Sendromu (ADS) hakkında genel bir bakış sunmaktadır. Klinik yelpazeyi, Tam ADS (TADS) ile Kısmi (KADS) ve Hafif (HADS) formlarını kapsayacak şekilde inceliyoruz. Ayrıca, bu bölümde, ADS ile skrotal gelişim anomalilerinin kesiştiği nadir klinik vakalara yer verilmiş ve bu karmaşık durumlar için gereken multidisipliner tedavi stratejileri tartışılmıştır.
Referanslar
Hughes IA, Deeb A. Androgen insensitivity syndrome. Lancet. 2012;380(9851):1419–1428.
Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens). 2008;7(3):217–229.
Lanciotti L, Cofini M, Leonardi A, Bertozzi M, Penta L, Esposito S. Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS). Int J Environ Res Public Health. 2019;16(7).
Delli Paoli E, et al. Androgen insensitivity syndrome: a review. J Endocrinol Invest. 2023;46(11):2237–2245.
Batista RL, Costa EMF, Rodrigues AS, et al. Mild Androgen Insensitivity Syndrome: The Current Landscape.Endocr Pract. 2022;28(9):911–917.
Quigley CA, De Bellis A, Marschke KB, El-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16:271–321.
Koochekpour S. Androgen receptor signaling and mutations in prostate cancer. Asian J Androl. 2010;12(5):639–657.
Ammini AC, et al. Morphogenesis of the human external male genitalia. Pediatr Surg Int. 1997;12(5–6):401–406.
Flum AS, Chaviano AH, Kaplan WE. Hemiscrotal agenesis: new variation in a rare anomaly. Urology.2012;79(1):210–211.
Spagnoli A, et al. Complete Scrotal Agenesis: New Surgical Approach Using Self-inflating Tissue Expander.Urology. 2018;112:169–171.
Al Samahy O, et al. Efficacy of topical testosterone in management of scrotal hypoplasia and agenesis. J Pediatr Urol. 2021;17(4):515.e1–515.e8.
Marzouki M, et al. Successful conservative management of isolated hemiscrotal agenesis: case report. Urol Case Rep. 2026;66:103408.
Jafarli I, John B, Fahmy M, Syed M, Mishra P, Huseynova I. Diagnosis and Management of Androgen Insensitivity Syndrome in Children. Glob J Pediatr Neonatal Care. 2023;4(2). doi:10.33552/GJPNC.2023.04.000584.
Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. In: Adam MP, Bick SL, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. Updated May 11, 2017.
