Testicular Feminization Syndrome: A Case Study


  • Rupa Reddy M
  • Naveen Reddy M.V


We report a rare case of testicular feminization syndrome in a 24 years old patient. This is a syndrome due to androgen insensitivity. The patient is phenotypically female with male Karyotype (46XY). The patient is completely feminine with well-developed breasts, female external genitalia, blind vagina, absent mullerian structures, undescended testes and sparse axillary and pubic hair. The gonad (undescended testes) may be intra-abdominal, inguinal or labial. The patient was surgically treated with bilateral orchidectomy and vaginal reconstruction. The incidence of testicular feminization syndrome is reported to range from 1 in 2,000 to 1 in 62,400.


North Cutt R, Island DP, Liddle GW. An explanation for the target organ unresponsiveness to testosterone in the testicular feminization syndrome. J Clin Endocrinol Metab (1969). 29(3): 422–25.

Lyon MF, Hawkes SG. X-linked gene for testicular feminization in mouse. Nature (1970). 227(5264): 1217-19.

Quint EH, Mc Carthy JD, Smith YR. Vaginal surgery for congenital anomalies. Clin Obstet Gynecol (2010). 53(1): 115–24.

Nichols JL, Bieber EJ, Gell JS. Case of sisters with complete androgen insensitivity syndrome and discordant mullerian remnants. Fertility and sterility (2009). 91(3): 932.e15–8.

Hannema SE, Scott IS, Rajpert De Meyts E, Skakkeback NE, Colemen N, Hughes IA. Testicular development in the complete androgen insensitivity syndrome. J Pathol (2006). 208(4): 518–27.

Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome: A review. J Pediatric Adolesc Gynecol (2008). 21(6): 305–10.

Deeb A, Mason C, Lee YS, Hughes IA. Correlation between genotype, phenotype and sex ofrearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) (2005). 63(1): 56–62.

Simpson JL. Male pseudohermophroditism due to androgen insensitivity or 5 alpha reductase deficiency. Glob Libr Women’s Med (2008). doi: 10.3843/GLOWM.10349.

Hurt W, Bodurtha J, Mc Call J, Ali M. Seminoma in pubertal patient with androgen insensitivity syndrome. Am J Obstet Gynecol (1989). 161(3): 530-31.






Case Report