Paediatric Surgery (Ukraine). 2024. 4(85): 123-129. doi: 10.15574/PS.2024.4(85).123129
Chaikivska E. F., Pyrohova V. I., Hyzha L. Y., Pereyaslov A. A., Borysova L. O.
Danylo Halytsky Lviv National Medical University, Ukraine

For citation: Chaikivska EF, Pyrohova VI, Hyzha LY, Pereyaslov AA, Borysova LO. (2024). Clinical case of congenital vagina and cervical malformations in adolescent girl. Paediatric Surgery (Ukraine). 4(85): 123-129. doi: 10.15574/PS.2024.4(85).123129.
Article received: Sep 24, 2024. Accepted for publication: Dec 10, 2024.

Congenital malformations of the female genital organs consist of a group of various deviations from normal anatomical structure. Management of the congenital abnormalities of the female genital tract depends on the type of malformation and includes both endoscopic and conventional surgeries.
The aim of this study was to present the case of congenital vaginal atresia associated with cervical atresia in adolescent female patient, in which hysterectomy was performed.
Clinical case. During surgery, due to the acute appendicitis in a female patient with mental retardation, the uterine congenital malformation was suspected. After further investigation, the diagnosis of vaginal and cervical aplasia was established. She received conservative therapy (peroral contraceptives), but there were disturbances in the medication regime that caused the necessity of rehospitalization and emergent surgery – hysterectomy with the right-side tubectomy and left-side adnexectomy. The postoperative course was uncomplicated.
Conclusion. Girls of prepubertal and pubertal age with primary amenorrhea and cyclic abdominal pain should always consulted by a gynecologist in order to confirm/exclude malformations of uterus and genital tracts, their timely treatment, and prevention of possible complications. The choice of surgical treatment for vaginal atresia combined with cervical atresia should be individual in each case, bearing in mind associated pathology and social status of the child.
The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. The informed consent of the patients was obtained for the research.
No conflict of interests was declared by the authors.
Keywords: congenital vaginal atresia, congenital cervical atresia, treatment, hysterectomy.

REFERENCES

1. Acién P, Acién MI. (2011). The history of female genital tract malformation classifications and proposal of an updated system. Hum Reprod Update. 17(5): 693-705. https://doi.org/10.1093/humupd/dmr021; PMid:21727142

2. Acién P, Acién M. (2016). The presentation and management of complex female genital malformations. Hum Reprod Update. 22(1): 48-69. https://doi.org/10.1093/humupd/dmv048; PMid:26537987

3. ACOG. (2018). ACOG Committee Opinion No. 728. Müllerian agenesis: Diagnosis, management, and treatment. Obstet Gynecol. 131(1): e35-e42. https://doi.org/10.1097/AOG.0000000000002458; PMid:29266078

4. Avramenko NV, Barkovskyy DE. (2018). Abnormalities of the genital's development in girls and methods of its correction. Bulletin of Problems in Biology and Medicine. 1(142): 16-20. https://doi.org/10.29254/2077-4214-2018-1-1-142-16-20

5. Berglund A, Johannsen EB, Skakkebæk A et al. (2024). Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development. Biol Sex Differ. 15(1): 77. https://doi.org/10.1186/s13293-024-00654-8; PMid:39380113 PMCid:PMC11463111

6. Bonsergent SA, Rojo G, Graziani P et al. (2023). Clinical features and decision making of congenital vaginal agenesis combined with cervical aplasia: Case report and literature reviews. J Pediatr Adolesc Gynecol. 36(2): 257-258. https://doi.org/10.1016/j.jpag.2023.01.209

7. Breech LL, Laufer MR. (2009) Müllerian anomalies. Obstet Gynecol Clin North Am. 36(1): 47-68. https://doi.org/10.1016/j.ogc.2009.02.002; PMid:19344847

8. Bulyk RY, Popeliuk O-MV, Melnyk VV, Proniaiev DV. (2022) Modern view of the germ and embryogenesis of the urinary organs. Reports of Vinnytsia National Medical University. 26(2): 328-334. https://doi.org/10.31393/reports-vnmedical-2022-26(2)-27; PMid:37284630

9. Carreras N, de Guirior C, Munmany M et al. (2021). Diagnosis and surgical treatment of uterine isthmus atresia: A case report and review of the literature. J Minim Invasive Gynecol. 28(1): 137-141. https://doi.org/10.1016/j.jmig.2020.07.026; PMid:32841753

10. Cunha GR, Robboy SJ, Kurita T et al. (2018). Development of the human female reproductive tract. Differentiation. 103: 46-65. https://doi.org/10.1016/j.diff.2018.09.001; PMid:30236463 PMCid:PMC6234064

11. Di Spiezio Sardo A, Campo R, Gordts S et al. (2015). The comprehensiveness of the ESHRE/ESGE classification of female genital tract congenital anomalies: a systematic review of cases not classified by the AFS system. Hum Reprod. 30(5): 1046-1058. https://doi.org/10.1093/humrep/dev061; PMid:25788565 PMCid:PMC4400201

12. Dietrich JE, Millar DM, Quint EH. (2014). Obstructive reproductive tract anomalies. J Pediatr Adolesc Gynecol. 27(6): 396-402. https://doi.org/10.1016/j.jpag.2014.09.001; PMid:25438708

13. Dorthu L, Danthine D. (2024). Congenital abnormalities causing hematocolpos: A pictorial essay. J Belg Soc Radiol. 108(1): 84. https://doi.org/10.5334/jbsr.3660; PMid:39345984 PMCid:PMC11428662

14. Fujimoto VY, Miller JH, Klein NA, Soules MR. (1997). Congenital cervical atresia: report of seven cases and review of the literature. Am J Obstet Gynecol. 177(6): 1419-1425. https://doi.org/10.1016/S0002-9378(97)70085-1; PMid:9423745

15. Grimbizis GF, Camus M, Tarlatzis BC et al. (2001). Clinical implications of uterine malformations and hysteroscopic treatment results. Hum Reprod Update. 7(2): 161-174. https://doi.org/10.1093/humupd/7.2.161; PMid:11284660

16. Grimbizis GF, Gordts S, Di Spiezio Sardo A et al. (2013). The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Gynecol Surg. 10(3): 199-212. https://doi.org/10.1007/s10397-013-0800-x; PMid:23894234 PMCid:PMC3718988

17. Gurbuz A, Karateke A, Haliloglu B. (2005) Abdominal surgical approach to a case of complete cervical and partial vaginal agenesis. Fertil Steril. 84(1): 217. https://doi.org/10.1016/j.fertnstert.2005.01.112; PMid:16009181

18. Habiba M, Heyn R, Bianchi P et al. (2021). The development of the human uterus: morphogenesis to menarche. Hum Reprod Update. 27(1): 1-26. https://doi.org/10.1093/humupd/dmaa036; PMid:33395479

19. Heremans R, Jan Z, Timmerman D, Vankelecom H. (2021). Organoids of the female reproductive tract: Innovative tools to study desired to unwelcome processes. Front Cell Dev Biol. 9: 661472. https://doi.org/10.3389/fcell.2021.661472; PMid:33959613 PMCid:PMC8093793

20. Herweck A, DeSantis C, Shandley LM et al. (2024). International gestational surrogacy in the United States, 2014-2020. Fertil Steril. 121(4): 622-630. https://doi.org/10.1016/j.fertnstert.2023.12.039; PMid:38176517

21. Hillard PJA. (2017). Surgical decision-making in pediatric and adolescent gynecology: Just because you can, doesn't mean you should. J Pediatr Adolesc Gynecol. 30(6): 601-602. https://doi.org/10.1016/j.jpag.2017.09.005; PMid:28923750

22. Järvholm S, Kättström A, Kvarnström N et al. (2024). Long-term health-related quality-of-life and psychosocial outcomes after uterus transplantation: A 5-year follow-up of donors and recipients. Hum Reprod. 39(2): 374-381. https://doi.org/10.1093/humrep/dead245; PMid:37995381 PMCid:PMC10833084

23. Jin X, Liu S, Wang N et al. (2024). Tubal replacement of cervix for treatment of type II vaginal atresia complicated with cervical dysplasia: a case report. J Int Med Res. 52(8): 3000605241272532. https://doi.org/10.1177/03000605241272532; PMid:39192614 PMCid:PMC11350548

24. Kapczuk K, Kędzia W. (2021). Primary amenorrhea due to anatomical abnormalities of the reproductive tract: Molecular insight. Int J Mol Sci. 22(21): 11495. https://doi.org/10.3390/ijms222111495; PMid:34768925 PMCid:PMC8584168

25. Kisku S, Varghese L, Kekre A et al. (2015). Bowel vaginoplasty in children and young women: an institutional experience with 55 patients. Int Urogynecol J. 26(10): 1441-1448. https://doi.org/10.1007/s00192-015-2728-3; PMid:25963059

26. Kobayashi A, Fukui A, Funamizu A et al. (2017). Laparoscopically assisted cervical canalization and neovaginoplasty in a woman with cervical atresia and vaginal aplasia. Gynecol Minim Invasive Ther. 6(1): 31-33. https://doi.org/10.1016/j.gmit.2016.05.001; PMid:30254867 PMCid:PMC6113953

27. Konar H. (2021). Mullerian malformations and reconstructive surgery: Clinicians' approach. J Obstet Gynaecol India. 71(1): 11-20. https://doi.org/10.1007/s13224-020-01400-x; PMid:33814794 PMCid:PMC7960856

28. Linscheid C, Holoch K, Moran HK, Spoozak L. (2021). Case report: Uterine didelphys and cervical agenesis in an 18 year-old woman presenting with a pelvic mass. J Pediatr Adolesc Gynecol. 34(5): 758-760. https://doi.org/10.1016/j.jpag.2021.02.100; PMid:33601069

29. Mahajan NN, Tilve A, Shinde G et al. (2023). Minimally invasive vaginal approach to the uterovestibular anastomosis for cervicovaginal aplasia: a case series and review of literature. Arch Gynecol Obstet. 308(1): 25-34. https://doi.org/10.1007/s00404-022-06708-9; PMid:35864274

30. Mei L, Zhang H, Chen Y, Niu X. (2021). Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review. Congenit Anom. 61(4): 127-132. https://doi.org/10.1111/cga.12417; PMid:33829535 PMCid:PMC8360086

31. Mikos T, Gordts S, Grimbizis GF. (2020). Current knowledge about the management of congenital cervical malformations: A literature review. Fertil Steril. 113(4): 723-732. https://doi.org/10.1016/j.fertnstert.2020.02.006; PMid:32228875

32. Mishra S, Sapkale B, Singh S et al. (2024). Comprehensive management of Mayer-Rokitansky-Küster-Hauser syndrome management: A case report. Narra J. 4(2): e755. https://doi.org/10.52225/narra.v4i2.755; PMid:39280286 PMCid:PMC11391953

33. Ongun H, Celik K, Arayici S et al. (2024). Miracles of science: Birth after uterus transplantation. J Obstet Gynaecol Res. 50(1): 5-14. https://doi.org/10.1111/jog.15825; PMid:37922953

34. Pati T, Nayak S, Mohapatra S et al. (2015). Hysterectomy of a 15 years old girl: A rare case report. Donald School J Ultrasound Obstet Gynecol. 9(3): 331-334. https://doi.org/10.5005/jp-journals-10009-1420

35. Pietzsch M, Schönfisch B, Höller A et al. (2024). A cohort of 469 Mayer-Rokitansky-Küster-Hauser syndrome patients – Associated malformations, syndromes, and heterogeneity of the phenotype. J Clin Med. 13(2): 607. https://doi.org/10.3390/jcm13020607; PMid:38276113 PMCid:PMC10816094

36. Rezaei Z, Omidvar A, Niroumanesh S, Omidvar A. (2015). Cervicovaginal anastomosis by Gore-Tex in Mullerian agenesis. Arch Gynecol Obstet. 291(2): 467-472. https://doi.org/10.1007/s00404-014-3442-y; PMid:25182214

37. Ruggeri G, Gargano T, Antonellini C et al. (2012). Vaginal malformations: a proposed classification based on embryological, anatomical and clinical criteria and their surgical management (an analysis of 167 cases). Pediatr Surg Int. 28(8): 797-803. https://doi.org/10.1007/s00383-012-3121-7; PMid:22806600

38. Saravelos SH, Cocksedge KA, Li TC. (2008). Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal. Hum Reprod Update. 14(5): 415-429. https://doi.org/10.1093/humupd/dmn018; PMid:18539641

39. Skinner B, Quint EH. (2017). Obstructive reproductive tract anomalies: a review of surgical management. J Minim Invasive Gynecol. 24(6): 901-908. https://doi.org/10.1016/j.jmig.2017.04.020; PMid:28483538

40. Tanitame K, Tanitame N, Urayama S, Ohtsu K. (2021). Congenital anomalies causing hemato/hydrocolpos: imaging findings, treatments, and outcomes. Jpn J Radiol. 39(8): 733-740. https://doi.org/10.1007/s11604-021-01115-7; PMid:33840015 PMCid:PMC8338850

41. Venkata VD, Jamaluddin MFB, Goad J et al. (2022). Development and characterization of human fetal female reproductive tract organoids to understand Müllerian duct anomalies. Proc Natl Acad Sci USA. 119(30): e2118054119. https://doi.org/10.1073/pnas.2118054119; PMid:35858415 PMCid:PMC9335258

42. Veresniuk N, Pyrohova V. (2020). Disorders of reproductive health in patients with genital malformations. Health of Woman. 7(153): 51-55. https://doi.org/10.15574/HW.2020.153.51

43. Veroux M, Scollo P, Giambra MM et al. (2024) Living-donor uterus transplantation: A clinical review. J Clin Med. 13(3): 775. https://doi.org/10.3390/jcm13030775; PMid:38337468 PMCid:PMC10856556