Mayer-Rokitansky-Küster-Hauser Syndrome: A Case Series

Parul Bhugra; Nirmala Duhan; Roopa Malik; Menka Verma; Oindrilla Karmakar; Nasreen Chowdhary

doi:10.55489/njmr.160120261223

Authors

Parul Bhugra Department of Obstetrics and Gynaecology, Pt B D Sharma, PGIMS, Rohtak, India
Nirmala Duhan Department of Obstetrics and Gynaecology, Pt B D Sharma, PGIMS, Rohtak, India
Roopa Malik Department of Obstetrics and Gynaecology, Pt B D Sharma, PGIMS, Rohtak, India
Menka Verma Department of Obstetrics and Gynaecology, Pt B D Sharma, PGIMS, Rohtak, India
Oindrilla Karmakar Department of Obstetrics and Gynaecology, Pt B D Sharma, PGIMS, Rohtak, India
Nasreen Chowdhary Department of Obstetrics and Gynaecology, Pt B D Sharma, PGIMS, Rohtak, India

DOI:

https://doi.org/10.55489/njmr.160120261223

Keywords:

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome), Mullerian dys-genesis/aplasia, Primordial uterus, Primary amenorrhea, Vaginoplasty

Abstract

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH syndrome), also referred to as müllerian dysgenesis, is a rare congenital disease that causes utero-vaginal hypoplasia or aplasia with normal secondary sexual characteristics and a karyotype 46, XX. This retrospective study included five MRKH syndrome patients. The mean age at presentation was 20.2 years. All five patients (100%) reported with nonattainment of menarche; among them, two patients (40%) experienced dyspareunia, while one patient (20%) reported cyclic abdominal pain. Clinical assessment and diagnostic investigations confirmed the presence of MRKH syndrome. The patients and their families were counselled regarding anatomical abnormalities and available fertility options. Vaginoplasty, aimed at creating a neo-vagina, was a key component in the management approach. The neo-vagina was successfully constructed in four out of five patients (80%), whereas in one patient (20%), the procedure was discontinued due to a rectal injury. One patient (20%) also underwent additional surgery involving removal of the left-sided rudimentary uterine horn and preservation of the functional endometrium on the right side. This preserved endometrium was anastomosed with the neo-vagina to facilitate menstrual outflow, potentially maintaining the patient’s reproductive capability.

References

1. Morcel K, Camborieux L, Müllériennes PRA, Gurrier D. Mayer Rokitansky-Kuster-Hauser (MRKH) syndrome. Orphanet J Rare Dis 2007; 2:13. DOI: https://doi.org/10.1186/1750-1172-2-13 PMid:17359527 PMCid:PMC1832178 DOI: https://doi.org/10.1186/1750-1172-2-13

2. Herlin M, Bjørn AM, Rasmussen M, Trolle B, Petersen MB. Prevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide registry-based study. Hum Reprod. 2016 Oct;31(10):2384-2390. DOI: https://doi.org/10.1093/humrep/dew220 PMid:27609979 DOI: https://doi.org/10.1093/humrep/dew220

3. Philbert P, Biason-Lauber A, Rouzier E, Pienkowski C, Paris F, Konard D et al. Identification and functional analysis of new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab.2008;93(3):895-900. DOI: https://doi.org/10.1210/jc.2007-2023 PMid:18182450 DOI: https://doi.org/10.1210/jc.2007-2023

4. Bjørrsum-Meyer T, Herlin M, Qvist N, Petersen MB. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in co-occurrence: two case reports and a review of the literature. J Med Case Rep. 2016 Dec 21;10(1):374. DOI: https://doi.org/10.1186/s13256-016-1127-9 PMid:28003020 PMCid:PMC5178070 DOI: https://doi.org/10.1186/s13256-016-1127-9

5. Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer Rokitansky-Küster-Hauser (MRKH) syndrome. Clin Genet 2017,91(2): 233-246. DOI: https://doi.org/10.1111/cge.12883 PMid:27716927 DOI: https://doi.org/10.1111/cge.12883

6. Bombard DS 2nd, Mousa SA. Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol. 2014 Sep;30(9):618-623. DOI: https://doi.org/10.3109/09513590.2014.927855 PMid:24948340 DOI: https://doi.org/10.3109/09513590.2014.927855

7. Rousset P, Raudrant D, Peyron N, Buy JN, Valette PJ, Hoeffel C. Ultrasonography and MRI features of Mayer-Rokitansky-Küster-Hauser syndrome. Clin Radiol 2013;68(9):945-952. DOI: https://doi.org/10.1016/j.crad.2013.04.005 PMid:23725784 DOI: https://doi.org/10.1016/j.crad.2013.04.005

8. Sharma JB. Menstrual disorders and pelvic pain. In: Sharma JB, eds. Textbook of Gynaecology. 2nd ed New Delhi: Arya Publishing Company;2022. P.119-60.

9. Dewi DK, Randy S, Wienanda AK, Christanto AG. Atypical form of Mayer Rokitansky-Küster-Hauser syndrome: A case report. Radiol Case Rep 2023;18: 2806-2809. DOI: https://doi.org/10.1016/j.radcr.2023.04.050 PMid:37324552 PMCid:PMC10267435 DOI: https://doi.org/10.1016/j.radcr.2023.04.050

10. Nguyen BT, Dengler KL, Saunders RD. Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation. Mil Med. 2018 May 1;183(5-6):e266-e269. DOI: https://doi.org/10.1093/milmed/usx066 PMid:29415121 DOI: https://doi.org/10.1093/milmed/usx066

11. Ray U, Adhikari S, Dhital R, Shrestha S, Shah S, Poudel S, et al. Mayer-Rokitansky-Kuster-Hauser Syndrome: A rare case report from Nepal. Ann Med Surg (Lond). 2022 Sep 16;82:104725. DOI: https://doi.org/10.1016/j.amsu.2022.104725 PMID: 36268332; PMCID: PMC9577869. DOI: https://doi.org/10.1016/j.amsu.2022.104725

12. Anatomic disorders. In : Hoffman BL, Schorge JO, Halvorson LM, Hamid CA, Corton MM, Schaffer JI. Williams Gynaecology. 4th ed. New York: McGraw Hill; 2020.p.406-427.

13. Sharma JB. Congenital malformations of the female genital organs. In: Sharma JB. Textbook of Gynaecology. 2nd ed, New Delhi: Arya Publishing Company;2022. p.79-92.

14. American College of Obstetrician and Gynaecologists: Müllerian agenesis: diagnosis, management, and treatment. Committee Opinion no.728, January 2018. Available from: https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/01/mullerian-agenesis-diagnosis-management-and-treatment

15. Zhao W, Du N, Han L, Liu Y, Wang Y, Zhao X, et al . A case report of laparoscopic surgery for Mayer-Rokitansky-Küster-Hauser syndrome with preservation of functional primordial uterus. BMC Womens Health 2023;23(1):634. DOI: https://doi.org/10.1186/s12905-023-02741-1 PMid:38012663 PMCid:PMC10683278 DOI: https://doi.org/10.1186/s12905-023-02741-1