Published: 2020-06-26

Complete androgenin sensitivity syndrome presenting with primary amenorrhoea and inguinal mass: a case report

P. Saranya, S. Pavani, Ramalingam ., M. Mahima Swaroopa, R. Hari Babu


Androgen insensitivity syndrome (AIS), also known as testicular feminization, an X-linked recessive disorder comprises a wide range of phenotypes that are caused by various types of mutations in the androgen receptor gene. AIs can be classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. We report this case as an interesting and rare syndrome. The patient is a 15-year-old phenotypic female who presented with primary amenorrhea and normal-appearing external genitalia. Orchidectomy was done after proper counselling and proper psychological support was given to her.


Androgen insensitivity syndrome, Androgen receptor gene, Testicular feminization

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Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones. 2008 Jul 1;7(3):217-29.

Morris JM. The syndrome of testicular feminization in male pseudo hermaphrodite. Am J Obstet Gynecol. 1953;65(6):1192-211.

Gingu CO, Dick AL, Patrascoiu S, Domnisor L, Mihai H, Harza MI, et al. Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. Rom J Morphol Embryol. 2014 Jan 1;55(1):177-81.

Winterborn MH, France NE, Raiti S. Incomplete testicular feminization. Arch Dis Child. 1970;45(244):811-2.

Solari A, Groisman B, Bidondo MP, Cinca C, Alba L. Complete androgen insensitivity syndrome: diagnosis and clinical characteristics. Arch Argent Pediatr. 2008;106(3):265-8.

Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.

Xu HY, Zhang HX, Xiao Z, Qiao J, Li R. Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. Asian J Androl. 2019;21(2):109-114.

Koch CA. Androgen Insensitivity Syndrome. Medscape. 2017;2017.

Campo S, Stivel M, Nicolau G. Testicular function in post pubertal male pseudo hermaphroditism. Clinical Endocrinol. 1979;11(5):481-90.

Adnyana IP, Chandragiram TG, Negara KS. Laparoscopy Diagnostic and Bilateral Gonadectomy in a Patient with Complete Androgen Insensitivity Syndrome (CAIS)–A Rare Case of Primary Amenorrhoea with 46XY karyotype. Biomed Pharmacol J. 2018 Dec 25;11(4):2069-72.

Laila TR, Ahmed SS. Androgen Insensitivity Syndrome- A Case Report. Am J Clini Experimental Med. 2015;3(4), 2015:133.

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.