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BJOG. 2008 May;115(6):737-41. doi: 10.1111/j.1471-0528.2008.01703.x.

Swyer syndrome: presentation and outcomes.

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Department of Reproductive Health, UCL Institute for Women's Health, Elizabeth Garrett Anderson Hospital, London, UK.



To establish the spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome.


Retrospective notes review.


Tertiary referral centre for disorders of sex development.


A total of 29 adult women with Swyer syndrome.


Information was collected on age at diagnosis, biometric characteristics, timing of gonadectomy, histology of gonad, bone mineral density, uterine size and fertility.


Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterine size.


With regard to presentation, 26/29 (90%) women in this series presented with delayed puberty, and the median age at diagnosis was 17.2 years (range 0-55 years). The median age at gonadectomy was 18 years (range 9-33 years). Histology of the gonad was available in 22 women and demonstrated streak gonads with no evidence of malignancy in 12, dysgerminoma in 7 and gonadoblastoma in 3. The youngest patient diagnosed with dysgerminoma was 10 years old. The median height of the women was 1.73 m (range 1.54-1.95 m). Twelve out of the 20 (60%) women had evidence of osteopenia on dual energy X-ray absorptiometry scan. The uterine size and shape was assessed in eight women after completion of induction of puberty, and the uterine cross-section was found to be significantly lower than that in normal controls. Fertility was achieved with ovum donation in three women, all of whom had live births and one subsequently had a second successful pregnancy.


Early diagnosis of Swyer syndrome is necessary in view of the risk of dysgerminoma that can develop at an early age. Adequate hormone replacement is required to maintain bone mineral density and may improve the uterine size and shape.

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