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Swyer syndrome: presentation and outcomes.
L Michala1, D Goswami, S M Creighton
1Department of Reproductive Health, UCL Institute for Women's Health, Elizabeth Garrett Anderson Hospital, London, UK.
Summary
Early diagnosis of Swyer syndrome is crucial due to the risk of dysgerminoma. Hormone replacement therapy is vital for bone mineral density and may improve uterine development in affected women.
Area of Science:
- Reproductive Endocrinology
- Genetics
- Gynecologic Oncology
Background:
- Swyer syndrome (46,XY complete gonadal dysgenesis) is a rare disorder characterized by the presence of Y chromosome in an individual with female external genitalia.
- Individuals with Swyer syndrome have bilateral streak gonads and are at increased risk of gonadal malignancy.
Purpose of the Study:
- To delineate the clinical presentation, natural history, and gynecologic outcomes in women diagnosed with Swyer syndrome.
- To inform early diagnosis and management strategies.
Main Methods:
- Retrospective review of medical records from a tertiary referral center for disorders of sex development.
- Analysis of data from 29 adult women with Swyer syndrome, including age at diagnosis, biometric data, gonadectomy details, gonadal histology, bone mineral density, uterine characteristics, and fertility outcomes.
Main Results:
- Ninety percent of women presented with delayed puberty, with a median diagnosis age of 17.2 years.
- Gonadal histology revealed streak gonads in 12, dysgerminoma in 7, and gonadoblastoma in 3. The youngest patient with dysgerminoma was 10 years old.
- Sixty percent of women had osteopenia, and uterine size was significantly smaller than in controls. Fertility was achieved via ovum donation in three women.
Conclusions:
- Early diagnosis of Swyer syndrome is essential to mitigate the risk of early-onset dysgerminoma.
- Appropriate hormone replacement is critical for maintaining bone mineral density and potentially improving uterine development.
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