| Campo DC | Valor | Idioma |
| dc.creator | Gomes, Ernane Machado | - |
| dc.date.accessioned | 2025-12-11T11:39:40Z | - |
| dc.date.available | 2025-12-11T11:39:40Z | - |
| dc.date.issued | 2025 | - |
| dc.identifier.citation | GOMES, Ernane Machado. Diferentes apresentações clínicas da Síndrome de Swyer: relatos de casos. Orientadora: Renata Lopes Britto. 2025. 33 f. Trabalho de Conclusão de Curso (Especialização em Ginecologia e Obstetrícia) - Comissão de Residência Medica, Hospital Universitário Professor Edgard Santos, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador (BA), 2025. | pt_BR |
| dc.identifier.uri | https://repositorio.ufba.br/handle/ri/43651 | - |
| dc.description.abstract | x development caused by mutations in genes located in the Y chromosome. It’s
typically described in female individuals with a 46XY karyotype and streak gonads, and it’s
normally diagnosed in adolescence because of the absence of menstruation, with or without
the spontaneous female sexual development. Given the physical, pshychological and social
aspects of this disease, it’s important to discuss about the different clinical presentations in
order to achieve an earlier diagnosis and therefore an effective treatment, which could prevent
more serious complications. Considering the importance of the subject, this study aimed to
describe three different cases of Swyer Syndrome, all being followed up at the gynecology
outpatient clinic of the Unidade de Saúde da Mulher at the Complexo Hospitalar Universitário
Professor Edgard Santos (C-HUPES). It includes three cases reports and a narrative review of
the literature on the reported topic | pt_BR |
| dc.language | por | pt_BR |
| dc.publisher | Universidade Federal da Bahia | pt_BR |
| dc.rights | Acesso Aberto | pt_BR |
| dc.subject | Síndrome de Swyer | pt_BR |
| dc.subject | Disgenesia Gonadal 46 XY | pt_BR |
| dc.subject | Disgenesia gonadal | pt_BR |
| dc.subject | Transtornos do Desenvolvimento Sexual | pt_BR |
| dc.subject.other | Swyer Syndrome | pt_BR |
| dc.subject.other | Gonadal Dysgenesis, 46,XY | pt_BR |
| dc.subject.other | Gonadal Dysgenesis | pt_BR |
| dc.subject.other | Disorders of Sex Development | pt_BR |
| dc.title | Diferentes apresentações clínicas da Síndrome de Swyer: relatos de casos | pt_BR |
| dc.title.alternative | Different clinical presentations of Swyer Syndrome: case reports | pt_BR |
| dc.type | Trabalho de Conclusão de Curso | pt_BR |
| dc.publisher.initials | UFBA | pt_BR |
| dc.publisher.country | Brasil | pt_BR |
| dc.subject.cnpq | CNPQ::CIENCIAS DA SAUDE::MEDICINA::CLINICA MEDICA::GINECOLOGIA E OBSTETRICIA | pt_BR |
| dc.contributor.advisor1 | Britto, Renata Lopes | - |
| dc.contributor.advisor1ID | https://orcid.org/0000-0002-8852-7039 | pt_BR |
| dc.contributor.advisor1Lattes | http://lattes.cnpq.br/2675370175818963 | pt_BR |
| dc.contributor.referee1 | Britto, Renata Lopes | - |
| dc.contributor.referee1ID | https://orcid.org/0000-0002-8852-7039 | pt_BR |
| dc.contributor.referee1Lattes | http://lattes.cnpq.br/2675370175818963 | pt_BR |
| dc.contributor.referee2 | Brito, Milena Bastos | - |
| dc.contributor.referee2ID | https://orcid.org/0000-0002-2397-4145 | pt_BR |
| dc.contributor.referee2Lattes | http://lattes.cnpq.br/3846579365432979 | pt_BR |
| dc.creator.Lattes | http://lattes.cnpq.br/2548668386472003 | pt_BR |
| dc.description.resumo | A disgenesia gonadal pura 46,XY, também conhecida como a síndrome de Swyer, se enquadra como um raro distúrbio do desenvolvimento sexual decorrente de mutações em genes localizados no cromossomo Y. É tipicamente caracterizada pela presença de indivíduos fenotipicamente femininos, porém com cariótipo masculino, e que normalmente se apresentam na adolescência com amenorreia primária e gônadas disgenéticas, podendo ou não apresentar desenvolvimento espontâneo de caracteres sexuais secundários. Devido ao impacto físico, psicológico e social da patologia, torna-se importante a discussão a respeito de suas diversas apresentações clínicas a fim de viabilizar um diagnóstico mais precoce e, portanto, um tratamento adequado na prevenção de complicações e na melhora da qualidade de vida. Devido à importância do tema, este trabalho propõe-se a descrever casos de síndrome de Swyer em pacientes acompanhadas no ambulatório de ginecologia da Unidade de Saúde da Mulher (UMUL) do Complexo Hospitalar Universitário Professor Edgard Santos (C-HUPES) e revisar literatura sobre o tema. Tratam-se, portanto, de relatos de casos de três pacientes com apresentações clínicas distintas, associado à discussão com revisão narrativa sobre o tema. | pt_BR |
| dc.publisher.department | Faculdade de Medicina da Bahia | pt_BR |
| dc.relation.references | 1. Tarenia SS, Chattopadhyay S, Das N, Hathi D, Baidya A, Chakrabarty P, et al.
Swyer syndrome presenting as dysgerminoma: a case report. J ASEAN Fed
Endocrine Soc. 2023;38(1):109–13.
2. Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation
and outcomes. BJOG. 2008;115(6):737–41.
3. Federação Brasileira das Associações de Ginecologia e Obstetrícia (FEBRASGO).
Amenorreia. São Paulo: FEBRASGO; 2021. (Protocolo FEBRASGO-Ginecologia,
n. 25/Comissão Nacional Especializada em Ginecologia Endócrina).
4. Priya PK, Mishra VV, Choudhary S, Rizvi JS. A case of primary amenorrhea with
Swyer syndrome. J Hum Reprod Sci. 2017;10(4):310–2.
5. Cherukuri S, Jajoo SS, Dewani D, Andela M. The mysteries of primary
amenorrhea: Swyer syndrome. Cureus. 2022;14(8):e28170.
6. Karimian N, Ghadakzadeh S, Eshraghi M. Swyer syndrome in a woman with pure
46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. Fertil
Steril. 2010;93(1):267.e13–267.e14.
7. Bumbulienė Ž, Bužinskienė D, Banuškevičienė G, Šidlovska E, Preikšaitienė E,
Utkus A. Challenges in the diagnosis of XY differences of sexual development.
Medicina (Kaunas). 2022;58(12):1736.
8. Yu T, Liu L. Pure 46,XY gonadal dysgenesis and 46,XY complete androgen
insensitivity syndrome: A case report. Medicine (Baltimore).
2024;103(25):e38297.
9. Pathak S, Raj G, Pratap R, Singh S. Late presentation of Swyer syndrome: a case
report. Radiol Case Rep. 2023;18:3295–8.
10. Das S, Saikia UK, Saikia KK, Sarma D, Choudhury BK, Bhuyan AK, et al.
Spectrum of 46 XY disorders of sex development: a hospital-based cross-sectional
study. Indian J Endocr Metab. 2020;24(3):360–5.
11. Banoth M, Naru RR, Inamdar MB, Chowhan AK. Familial Swyer syndrome: a rare
genetic entity. Gynecol Endocrinol. 2018;34(5):389–93.
12. Winkler I, Jaszczuk I, Gogacz M, Szkodziak P, Paszkowski T, Skorupska K, et al.
A successful new case of twin pregnancy in a patient with Swyer syndrome. Int J
Environ Res Public Health. 2022;19(9):5027.
13. Doherty LF, Rackow BW. Abnormal streak gonads in 46,XY complete gonadal
dysgenesis. Fertil Steril. 2011;96(6):1415–6.
14. Morawiecka-Pietrzak M, Dąbrowska E, Gliwińska A, et al. A rare case of primary
amenorrhoea and breast development in a 46,XY 15-year-old girl. Pediatr
Endocrinol Diabetes Metab. 2021;27(1):62–7.
15. Creatsas G, Deligeoroglou E, Tsimaris P, Pantos K, Kreatsa M. Successful
pregnancy in a Swyer syndrome patient with preexisting hypertension. Fertil Steril.
2011;96(1):e83–5.
16. Chen YS, Racca JD, Weiss MA. Tenuous transcriptional threshold of human sex
determination: SRY and Swyer syndrome at the edge of ambiguity. Front
Endocrinol (Lausanne). 2022;13:945030.
17. Lu L, Luo F, Wang X. Gonadal tumor risk in pediatric and adolescent phenotypic
females with disorders of sex development and Y chromosomal constitution. Front
Pediatr. 2022;10:856128.
18. Rudnicka E, Jaroń A, Kruszewska J, Smolarczyk R, et al. A risk of gonadoblastoma
in familial Swyer syndrome—A case report and literature review. J Clin Med.
2024;13(3):785.
24
19. Choi HG, Park S. Swyer syndrome: a case report. J Korean Soc Radiol.
2023;84(5):1181–4.
20. Bannour I, Bannour B, Ferjani S, Boughizane S. Swyer syndrome: a diagnostic
challenge. J Clin Obstet Gynecol. 2024.
21. Meyer KF, Freitas Filho LG, Silva KI, Trauzcinsky PA, Reuter C, Souza MBM.
The XY female and Swyer syndrome. Urol Case Rep. 2019;26:100939.
22. Giri KPG, Thapa S, Rawat R, Rouniyar S. Unanticipated diagnosis of Swyer
syndrome: a case report. Ann Med Surg (Lond). 2024;86:6293–9.
23. Omoaghe C. 46,XY complete gonadal dysgenesis presenting as primary
amenorrhea in a normomorphic adult female. Clin Case Rep. 2025.
24. King TFJ, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes.
2014;21(6):504–10.
25. Malhotra N, Dadhwal V, Sharma KA, Gupta D, Agarwal S, Deka D. The
laparoscopic management of Swyer syndrome: Case series. J Turk Ger Gynecol
Assoc. 2015;16(4):252–6.
26. Krygere L, Bartasiene R, Kozlovskaja-Gumbriene A, Drejeriene E. Infertility
management in a patient with Swyer syndrome: a case report. J Assist Reprod
Genet. 2025;42:1689–95.
27. Dural O, Evruke I, Can S, Yasa C, Ugurlucan FG, Akhan SE. Atypical presentation
of Swyer syndrome. J Pediatr Adolesc Gynecol. 2019;32(6):645–7.
28. Jawed I, Javed AA, Johar SA, Mirza DN, Abdani AA, Khan AA. A rare case of
Swyer syndrome from Pakistan in a young girl with primary amenorrhea. Womens
Health (Lond). 2023;19:1–4.
29. Weisshaupt K, Henrich W, Neymeyer J, Weichert A. Mode of delivery of women
with Swyer syndrome in a German case series. J Perinat Med. 2021.
30. Paricio JJ, Mariscal Zabala S, Bosch M, Serrano Egea A. Gonadoblastoma in a
patient with Swyer syndrome. Int J Gynecol Cancer. 2023;33:312–3. | pt_BR |
| dc.type.degree | Especialização | pt_BR |
| dc.publisher.course | MEDICINA | pt_BR |
| Aparece nas coleções: | Trabalho de Conclusão de Curso (Especialização) - Programa de Residência Médica (Faculdade de Medicina)
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