RESULTADOS DA GRAVIDEZ NA SÍNDROME DE TURNER
DOI:
https://doi.org/10.18554/acbiobras.v8i2.8505Keywords:
Turner syndrome, Fertility, PregnancyAbstract
A Síndrome de Turner (ST) é uma condição genética caracterizada pela deleção parcial ou completa do cromossomo sexual X e pode se apresentar como monossomia (45,X), mosaicismo com duas ou três linhagens celulares diferentes (45,X/46,XX; 45,X/47,XXX; 45,X/46,XX/47,XXX) ou anormalidade estrutural [46,X,i(Xq); 46,X,r(X); 46,X,del(X)]. A ST está intimamente associada ao hipogonadismo hipergonadotrófico e à disgenesia ovariana, resultando tipicamente em infertilidade na grande maioria das pacientes. Este manuscrito aborda a fertilidade, a gravidez e a maternidade em mulheres com ST. Em geral, as pacientes com ST apresentam desfechos adversos associados à gravidez e essa última é considerada de alto risco. Dessa forma, o manejo da gravidez na ST com uma equipe multidisciplinar, composta principalmente por especialistas em medicina materno-fetal e cardiologistas, deve ser implementado a fim de reduzir complicações para mães e bebês.
References
1. Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nature Reviews Endocrinology. 2019; 15(10): 601-614. https://doi.org/10.1038/s41574-019-0224-4.
2. van der Coelen S, van der Velden J, Nadesapillai S, Braat D, Peek R, Fleischer K. Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review. Human Reproduction Update. 2024: dmae005. https://doi.org/10.1093/humupd/dmae005.
3. Altalib A, AlSulmi E, Bokhari D, Alhalal Z 2nd, Alismail M, Alzayyat R. Mosaic Turner Syndrome With Multiple Spontaneous Pregnancies: A Case Report. Cureus. 2024; 16(1): e53351. https://doi.org/10.7759/cureus.53351.
4. Whigham CA, Vollenhoven B, Vincent AJ. Reproductive health in Turner syndrome: A narrative review. Prenatal Diagnosis. 2023; 43(2): 261-271. https://doi.org/10.1002/pd.6261.
5. Cauldwell M, Steer PJ, Adamson D, Alexander C, Allen L, Bhagra C, Bolger A, Bonner S, Calanchini M, Carroll A, Casey R, Curtis S, Head C, English K, Hudsmith L, James R, Joy E, Keating N, MacKiliop L, McAuliffe F, Morris RK, Mohan A, Von Klemperer K, Kaler M, Rees DA, Shetty A, Siddiqui F, Simpson L, Stocker L, Timmons P, Vause S, Turner HE. Pregnancies in women with Turner syndrome: a retrospective multicentre UK study. BJOG. 2022; 129(5): 796-803. https://doi.org/10.1111/1471-0528.17025.
6. Anderson ZS, Masjedi AD, Aberle LS, Mandelbaum RS, Erickson KV, Matsuzaki S, Brueggmann D, Paulson RJ, Ouzounian JG, Matsuo K. Assessment of obstetric characteristics and outcomes associated with pregnancy with Turner syndrome. Fertility and Sterility. 2024; 122(2): 233-242. https://doi.org/10.1016/j.fertnstert.2024.03.019.
7. Burt E, Davies MC, Yasmin E, Cameron-Pimblett A, Talaulikar V, La Rosa C, Clarke SA, Conway GS. Fertility and pregnancy outcomes in women with Turner syndrome: A single centre experience. Clinical Endocrinology (Oxf). 2024; 101(1): 51-59. https://doi.org/10.1111/cen.15078.
8. Wiecek M, Kempinska W, Gawlik-Starzyk A. Major opinion about motherhood among women with Turner syndrome. Ginekologia Polska. 2025. https://doi.org/10.5603/gpl.102148.
9. Beroukhim G, Kastury R, Davidson KA, Bergmann J, Vash-Margita A. Current Practices in Fertility-Based Counseling Among Individuals With Turner Syndrome: A Retrospective Study. Journal of Pediatric and Adolescent Gynecology. 2025: S1083-3188(25)00198-6. https://doi.org/ 10.1016/j.jpag.2025.02.002.
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