American Journal of Clinical and Experimental Medicine
Volume 3, Issue 4, July 2015, Pages: 133-136
Received: May 10, 2015;
Accepted: May 17, 2015;
Published: May 29, 2015
Views 4479 Downloads 126
Tarafdar Runa Laila, Department of Obstetrics & Gynaecology, University Kuala Lumpur, Royal College of Medicine Perak, Ipoh, Perak, Malaysia
Sheikh Salahuddin Ahmed, Department of Internal Medicine, University Kuala Lumpur, Royal College of Medicine Perak, Ipoh, Perak, Malaysia
Androgen insensitivity syndrome is a disorder where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures. It occurs due to an X-linked mutation in Androgen Receptor gene. This disorder includes a spectrum of changes ranging from male infertility to completely normal female external genitalia in a chromosomally male individual. These cases need proper diagnosis and appropriate management. We report this case for its interesting presentation. The patient is a 20 year old female, presented with bilateral labial swellings and primary amenorrhoea. Subsequent investigations were done which revealed that the patient is a genetically male with absence of female internal genitalia but presence of testes. Gonadectomy was done after proper counseling and was put on hormone replacement therapy. Proper psychological support was also given to her, which is more important.
Tarafdar Runa Laila,
Sheikh Salahuddin Ahmed,
Androgen Insensitivity Syndrome- A Case Report, American Journal of Clinical and Experimental Medicine.
Vol. 3, No. 4,
2015, pp. 133-136.
National Center for Biotechnology Information, US National Library of Medicine 2007; Available at http://www.ncbi.nlm.nih.gov/books/NBK1429/. (Accessed September17, 2014).
Hickey M, Balen A. Menstrual disorders in adolescence: Investigation and management. Hum Reproduction Update 2003; 9(5):493-504.
Morris JM. The syndrome of testicular feminization in male pseudohermaphrodite. Am J Obstet Gynecol 1953; 65(6): 1192–1211.
Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, et al. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. American Journal of Human Genetics 1989; 44(2): 264–269.
Brown TR, Lubahn DB, Wilson EM, Joseph DR, French FS, and Migeon CJ. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proceedings of the National Academy of Sciences of the United States of America 1988; 85(21): 8151–8155.
Matias PM, Donner P, Coelho R Thomaz M, Peixoto C, Macedo S, et al. Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations. J Biol Chem. 2000; 275: 26164–26171
Solari A, Groisman B, Bidondo MP, Cinca C, Alba L. Complete androgen insensitivity syndrome: diagnosis and clinical characteristics. Arch Argent Pediatr 2008; 106(3):265-68.
Papanastasopoulos P, Panagidis A, Verras D, Repanti M, Georgiou G. A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study. Fertil Steril 2009;. 92(3): 1169.e11-4.
Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, and Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones 2008; 7(3): 217–229.
Campo S, Stivel M, Nicolau G. Testicular function in post pubertal male pseudohermaphroditism. Clinical Endocrinology 1979; 11(5):481–490.
Deans R, Creighton SM, Liao LM, Conway GS. Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. Clin Endocrinol (Oxf) 2012;76(6):894-98.
Negussie D. Androgen insensitivity syndrome: a case report. Ethiop Med J 2007;45(3):307-1
Winterborn MH, France NE, Raiti S. Incomplete testicular feminization. Arch Dis Child 1970; 45 (244):811-12.
Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, Jaubert F, Polak M, Nihoul-Fekete C. Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. The Journal of urology 2008; 180 (4): 1496-501.
Boehmer AL, Brinkmann O, Bruggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab. 2001; 86(9):4151-4160.
Rao MV, Hydrabadi VR, Chandel D. Complete Androgen Insensitivity in Three Generations of a Family. Int J Hum Genet 2008; 8(4): 361-363.