Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
Abstract
:1. Introduction
2. Case Report
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Group of Risk | Malignancy Risk [%] | Disorder | Procedure |
---|---|---|---|
High | 15–35 | gonadal dysgenesis (Y +, intraabdominal gonads) | gonadectomy (during the diagnosis period) |
50 | PAIS (testicles outside the scrotum) | ||
40–60 | Frasier, Denys Drash (Y+) | ||
Middle | 12 | Turner (Y+) | gonadectomy (during the diagnosis period) |
28 | 17ß HSD deficiency | Monitoring | |
? | Gonadal dysgenesis (Y +, gonads in the scrotum) | Biopsy during puberty and irradiation ? | |
? | PAIS—partial insensitivity to androgens (gonads in the scrotum) | Biopsy during puberty and irradiation ? | |
Low | 3 | CAIS—complete insensitivity to androgens | Biopsy during puberty and ? |
2 | Ovarian-nuclear DSD | Testis tissue removal ? | |
1 | Turner (Y-) | None |
Parameter | Score | Sr |
---|---|---|
FSH | 56.7 mIU/mL | 2.8–11.3 |
LH | 19.8 mIU/mL | 1.2–11.6 |
Estradiol | <5 pg/mL | 10–160 |
Testosteron | 0.348 ng/mL | 0.006–0.8 |
ACTH | 28.6 pg/mL | 7.2–63.3 |
Cortisol | 16.9 µg/dL | 6.2–19.4 |
TSH | 3.7 mIU/mL | 0.2–4.0 |
fT4 | 1.03 ng/dL | 0.9–1.7 |
LDH | 118.0 U/L | 120–230 |
beta-hCG | 0.753 IU/mL | <10 |
AFP | 3.8 IU/mL | <6 |
Ca-125 | 8.21 U/mL | <35 |
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Sowińska-Przepiera, E.; Krzyścin, M.; Przepiera, A.; Brodowska, A.; Malanowska, E.; Kozłowski, M.; Cymbaluk-Płoska, A. Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea. Int. J. Environ. Res. Public Health 2023, 20, 2139. https://doi.org/10.3390/ijerph20032139
Sowińska-Przepiera E, Krzyścin M, Przepiera A, Brodowska A, Malanowska E, Kozłowski M, Cymbaluk-Płoska A. Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea. International Journal of Environmental Research and Public Health. 2023; 20(3):2139. https://doi.org/10.3390/ijerph20032139
Chicago/Turabian StyleSowińska-Przepiera, Elżbieta, Mariola Krzyścin, Adam Przepiera, Agnieszka Brodowska, Ewelina Malanowska, Mateusz Kozłowski, and Aneta Cymbaluk-Płoska. 2023. "Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea" International Journal of Environmental Research and Public Health 20, no. 3: 2139. https://doi.org/10.3390/ijerph20032139