DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20180940

Laparoscopic bilateral gonadectomy in a case of turner syndrome with 45XO/46XY genotype

Nitin H. Shah, Riddhi J. Shah, Swapnali Kshirsagar

Abstract


Turner syndrome is one of the common chromosomal aberrations which manifests in a female as multiple phenotypic disorders usually presenting as a case of primary amenorrhea. Many of these patients display mosaicism on karyotyping and a presence of Y chromosomal material indicates high risk of gonadoblastoma and gonadectomy is indicated which is best achieved by laparoscopy. This is a case of 21-year-old female phenotype referred as a case of primary amenorrhea diagnosed as Turner syndrome with 46XY mosaicism. Laparoscopic bilateral salpingoophorectomy was done. In patients of primary amenorrhea karyotyping should be evaluated and if Y chromosome detected these patients should be subjected to gonadectomy after proper risk counselling about malignancy.


Keywords


Gonadoblastoma, Turner, Y chromosome

Full Text:

PDF

References


Wong AS, Yuen P. Laparoscopic gonadectomy in patients with mosaic turner syndrome and complete androgen insensitivity syndrome: a report of 2 cases and review of the surgical aspects. J Minim Invasive Surg Sci. 2013;2(4):62-6.

Liu AX, Shi HY, Cai ZJ, Liu A, Zhang D, Huang HF, et al. Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. Hum Reprod Adv Access Publ. 2014;29(14):1413-91.

Brant WO, Rajimwale A, Lovell MA, Travers SH, Furness PD, Sorensen M, et al. Gonadoblastoma and Turner Syndrome. J Urol. 2006;175(5):1858-60.

Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, et al. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet Part A. 2005;135A(2):150-4.

Oliveira RMR de, Verreschi IT do N, Lipay MVN, Eça LP, Guedes AD, Bianco B. Y chromosome in Turner syndrome: review of the literature. Sao Paulo Med J. 2009;127(6):373-8.

Practice Committee of American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril. 2012;97(2):282-4.

Tokmak A, Akselim B, Yeşilyurt H. Turner syndrome with 45X/46XY mosaicism underwent gonadectomy: report of 3 cases. East J Med. 2015;20:117-9.

Troche V, Hernandez E. Neoplasia arising in dysgenetic gonads. Obstet Gynecol Surv. 1986;41(2):74-9.

Kawabata G, Sato M, Okamoto Y, Mizuno Y, Akematsu T, Okada H. Laparoscopic removal of gonads in a Turner’s syndrome mosaic female patient with isodicentric Y chromosome. Int J Urol. 2000;7(11):425-6.

Ackermann A, Bamba V. Current controversies in turner syndrome: genetic testing, assisted reproduction, and cardiovascular risks. J Clin Transl Endocrinol. 2014;1(3):61-5.

Nakhal RS, Hall-Craggs M, Freeman A, Kirkham A, Conway GS, Arora R, et al. Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiol. 2013;268(1):153-60.

Shankar KR, Inge TH, Gutmark-Little I, Backeljauw PF. Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment. J Pediatr Surg. 2014;49(11):1585-8.