Şenay SAVAŞ-ERDEVE, Zehra AYCAN, Melikşah KESKİN, SEMRA ÇETİNKAYA, Sema APAYDIN, Emin ÇAKMAKÇI

Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and unilateral paratesticular leiomyoma: A case report

Savaş-Erdeve Ş, Aycan Z, Keskin M, Çetinkaya S, Karaman A, Apaydın S, Çakmakçı E. Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and unilateral paratesticular leiomyoma: A case report. Turk J Pediatr 2016; 58: 654-657.Complete androgen insensitivity syndrome (CAIS) disorder of sex development due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy in CAIS is 5-10% until the age of 25 years. A 17-year-old patient raised as a female presented to our clinic complaining of amenorrhea. She had a history of surgery for inguinal hernia at the age of 2 years. The patient’s niece of the same age had been diagnosed with CAIS at our department and gonadectomy had been performed six months ago. She had four other nieces with the same diagnosis. Her external genital appeared phenotypically female. On physical examination, breast development was Tanner stage 5 and pubic hair Tanner stage 2 with scarce axillary hair. The gonad was palpated in the left inguinal region. Chromosome analysis revealed 46, XY and sex determining region Y (SRY) was positive. The patient was diagnosed as CAIS with laboratory and radiology results. The Sexual Orientation and Gender Identity Committee decided on gonadectomy. Histopathological evaluation of the gonad revealed bilateral Sertoli cell tumor and right paratesticular leiomyoma

PDF

___

Nakhal RS, Hall-Craggs M, Freeman A, et al. Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology 2013; 268: 153-160.

Fagouri H, Moussaoui DR, Kouach J, et al. Complete androgen insensitivity syndrome with a Sertoli-Leydig cell tumor. J Pediatr Adolesc Gynecol 2014; 27: e113-e115.

Bisceglia M, Magro G, Ben Dor D. Familial complete androgen insensitivity syndrome (Morris syndrome or testicular feminization syndrome) in 2 sisters. Adv Anat Pathol 2008; 15: 113-117.

Asl Zare M, Kalantari MR, Asadpour AA, Kamalati A. Bilateral laparoscopic gonadectomy in a patient with complete androgen insensitivity syndrome and bilateralsertoli-leydig cell tumor: a case report and brief review of the literature. Nephrourol Mon 2014; 6: e15278.

Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int J Gynecol Pathol 1991; 10: 126- 144.

Aguilar-Ponce J, Chilaca Rosas F, Molina Calzada C, Granados García M, Jiménez Ríos MA, De la Garza Salazar J. Testicular cancer in androgen insensitivity syndrome in a Mexican population. Clin Transl Oncol 2008; 10: 840-843.

Siminas, S. Kokai, G, Kenny, SE. Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature. J Pediatr Urol 2013; 9: e31-e34.

Krichen Makni K, Mnif Hachicha SL, Ellouze S. Feminizing testicular syndrome with multiple hamartomas and bilateral paratesticular leiomyomas. Rev Med Interne 2005; 26: 980-983.

Goulis DG, Iliadou PK, Papanicolaou A, et al. R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata. Hormones (Athens) 2006; 5: 200-204.