Familial Swyer Syndrome


  • Alka D. Tajne Vibrant Nursing College, Surat, Gujarat, India.


Swyer syndrome is a rare condition in which the reproductive organs of an individual are affected along with his/ her sexual development. Sexual development is mainly determined by an individual’s chromosomes. However, it is not commensurate with the affected individual’s chromosomal make-up in Swyer syndrome.


How to cite this article:
Tajne A. Familial Swyer Syndrome. Ind J Holist Nurs. 2021;12(1):23-25.


Datta DC. Textbook of obstetrics. 8th ed. New Delhi: Jaypee Brothers Medical Publishers; 2015.

Kumari N, Sharma S, Gupta P. A textbook of midwifery and gynecological nursing. India: S Vikas and Company India; 2017.

Jacob A. A comprehensive textbook of midwifery & gynecological nursing. 5th ed. Jaypee Brothers Medical Publishers; 2019. [Google Scholar]

Banoth M, Naru RR, Inamdar MB, Chowhan AK. Familial Swyer syndrome: a rare genetic entity. Gynecol Endocrinol. 2018;34(5):389-93. [PubMed] [Google Scholar]

Da Silva Rios S, Mazzaro Monteiro IC, Santos LG, Caldas NG, Chen AC, Chen JR, Silva HL. A case of Swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. Case Rep Oncol. 2015;8:179-84. [PubMed] [Google Scholar]

Kempe A, Engels H, Schubert R, Meindl A, van der Ven K, Plath H, Rhiem K, Schwanitz G, Schmutzler RK. Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. Gynecol Endocrinol. 2002;16(2):107-11. [PubMed] [Google Scholar]

Han Y, Wang Y, Li Q, Dai S, He A, Wang E. Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. Diagn Pathol. 2011;6:84. [PubMed] [Google Scholar]

Iqbal MB, Mushtaq I, Kambale T, Dey I. Swyer syndrome (46XY pure gonadal dysgenesis) presenting with dysgerminoma. Arch Med Health Sci. 2019;7(2):248-50. [Google Scholar]

Brosnan PG, Lewandowski RC, Toguri AG, Payer AF, Meyer WJ. A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures. J Pediatr. 1980;97(4):586-90. [PubMed] [Google Scholar]

Khare J, Deb P, Srivastava P, Reddy BH. Swyer syndrome: the gender swayer?; Alex J Med. 2017;53(2):197-200. [Google Scholar]

Bagci B, Bisgin A, Karauzum SB, Trak B, Luleci G. Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother’s maternal aunt with a female phenotype. Fertil Steril. 2011;95(5):1786.e1-3. [PubMed] [Google Scholar]

Machado C, Pereira A, Cruz JM, Cadilhe A, Silva A, Pereira A. A novel SRY nonsense mutation in a case of Swyer syndrome. J Pediatr Neonatal Indiv Med. 2014;3(1). [Google Scholar]

Patnayak R, Suresh V, Jena A, Rajagopal G, Vijayalakshmi B, Reddy AP, Rukumangadha M, Sachan A. Swyer syndrome: a case report with literature review. J Nepal Med Assoc. 2012;52(186):72-4. [Google Scholar]

Shetty DP, Arumugam M, Kadandale JS, Kumari S. Swyer syndrome in phenotypic female with 46,XY karyotype-case series. J Clin Diag Res. 2018;12(11):1-3. [Google Scholar]

Yadav P, Khaladkar S, Gujrati A. Imaging findings in dysgerminoma in a case of 46 XY, complete gonadal dysgenesis (swyer syndrome). J Clin Diagn Res. 2016;10(9). [Google Scholar]

Babu R, Shah U. Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): a systematic review and metaanalysis. J Pediatr Urol. 2021;17(1):39-47. [PubMed] [Google Scholar]

Al Jurayyan NA. Disorders of sex development: diagnostic approaches and management options – an Islamic perspective. Malays J Med Sci. 2011;18:4-12. [PubMed] [Google Scholar]