Swyer syndrome presenting as primary infertility


  • Nidhi Chauhan Department of Obstetrics & Gynaecology, SRHU, Doiwala, Uttarakhand, India
  • Surbhi Bhargava Department of Obstetrics & Gynaecology, SRHU, Doiwala, Uttarakhand, India
  • Manpreet Anand Department of Obstetrics & Gynaecology, SRHU, Doiwala, Uttarakhand, India


Swyer syndrome, Primary infertility


Swyer syndrome was first described by Jim Swyer in 1955. It is a form of “Pure gonadal dysgenesis”. The affected female has 46, XY karyotype. A 21 year old married female came with complaints of primary infertility. On examination she has normal built with normal secondary sexual characteristics. She had normal vaginal opening with small uterus. Serum FSH was 71.54 mIU/ml. Thyroid and Prolactin was in normal range. Karyotype showed genotype of 46, XY. Diagnostic laparoscopy showed streak gonads, small uterus, and normal patent fallopian tubes. Diagnosis of Swyer syndrome was made.


Coutin AS, Hamy A, Fondevilla M, Savigny B, Paineau J, Visset J. Pure 46, XY gonadal dysgenesis. J Gynecol Obstet Biol Reprod (Paris). 1996;25(8):792-6.

Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol. 2007;5:71.

Guidozzi F, Ball J, Spurdle A. 46, XY pure gonadal dysgenesis (Swyer-James syndrome)--Y or Y not a review. Obstet Gynecol Surv. 1994;49(2):138-46.

Behzadian MA, Tho SP, McDonough PG. The presence of the testicular determining sequence, SRY, in 46, XY females with gonadal dysgenesis (Swyer syndrome). Am J Obstet Gynecol. 1991;165(6 Pt 1):1887-90.

Sohval AR. The syndrome of pure gonadal dysgenesis. Am J Med. 1965;38:615-25.

Jones HW Jr, Ferguson-Smith MA, Heller RH. The pathology and cytogenetics of gonadal agenesis. Am J Obstet Gynecol. 1963;87:578-600.

Speroff L, Glass RH, Kase NG. Swyer syndrome. In: Speroff L, Glass RH, Kase NG, eds. Clinical Gynaecologic Endocrinology and Infertility. 6th ed. Baltimore: Lippincott, Williams and Wilkins; 1999: 367-368.






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