Mayer-Rokitansky-Küster-Hauser Syndrome: Admission With An Atypical Chief Complaint

Öz

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital abnormality with absence of uterus, cervix and vagina, together with normal sex development and external genitalia. It’s a rare case of girls seen in every 4,000 to 10,000 births. The syndrome, usually identified during the investigation of primary amenorrhea in puberty, may have additional abnormalities, that also can cause a variety of clinical complaints. However, in the literature there is no patients diagnosed as a result of admission with complaints of micturition. Urinary incontinence is common among women but while they do not seek for medical help and while they think that it’s a natural process though the situation affects their quality of life, may delay the diagnosis of important factors that may lie beneath. For the correct identification of these patients in clinical practice all female patients admitted to the clinic for any reason incontinence should be noted by physicians.

Anahtar Kelimeler

• Congenital anomaly,primary amenorrhea,incontinence

Mayer-Rokitansky-Küster-Hauser Sendromu: Atipik Bir Şikayet ile Başvuru

Öz

Mayer-Rokitansky-Küster-Hauser (MRKH) sendromu, normal sekonder seks karakter ve dış genital gelişimi ile birlikte uterus, serviks ve vajina yokluğu ile karakterize konjenital bir anomalidir. Dişi cinsiyette 4000 ile 10.000 doğumda bir görülen nadir bir sendromdur. Genellikle puberte döneminde primer amenore etiyolojisinin araştırılması sırasında tanımlanan sendrom, çeşitli klinik şikayetlere de neden olabilir. Ancak literatürde, işeme şikayetleriyle kliniğe başvurarak teşhis edilen vaka bildirilmemiştir. Üriner inkontinans kadınlarda yaygındır, ancak yaşam kalitesini etkilese de bu durumun doğal bir süreç olduğu düşünülerek tıbbi yardım arayışına girilmez ise altta yatan önemli faktörlerin tanısında gecikme yaşanabilir. Klinik pratikte bu hastaların doğru tanınması için, herhangi bir nedenle kliniğe başvuran hastalarda inkontinans varlığı hekimler tarafından mutlaka sorgulanmalıdır.

Anahtar Kelimeler

• Konjenital anomali,primer amenore,inkontinan

Kaynakça

1. 1. Oppelt P, Renne SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS et al. Clinical aspects of Mayer - Rokitansky – Kuester - Hauser syndrome: recommendations for clinical diagnosis and staging. Human Reproduction 2006;21:792-7.
2. 2. Üstüner I, Keskin L, Öztürk Ö, Özyiğit E, Avşar AF. Mayer – Rokitansky – Küster - Hauser (MRKH) sendromu. Yeni Tıp Dergisi 2008;25:241- 4.
3. 3. Morcel K, Camborieux L. Programme de Recherches sur les Aplasies Mülleriennes, Guerrier D. Mayer - Rokitansky - Kuester - Hauser syndrome. Orphanel Journal of Rare Diseases 2007;2:13.
4. 4. Folch M, Pigem I, Konje JC. Müllerian agenesis: etiology, diagnosis, and managment. Obstet Gynecol Surv 2000;55(10):644-9.
5. 5.Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS assosiation: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 1979;95(3):399-402.
6. 6. Bozlu M, Çayan S, Doruk E, Canpolat B, Akbay E. Çocukluk çağı ve adolesan yaş grubunda noktürnal ve diürnal enürezis epidemiolojisi. Türk Üroloji Dergisi 2002; 28 (1): 70-75.
7. 7. Kumar A, Mishra S, Dogra PN. Management of an unusual case of atypical Mayer-RokitanskyKuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction. Int Urogynecol J Pelvic Floor Dysfunct 2007; 18:823-5.
8. 8. Edmonds DK. Congenital malformations of the genital tract and their management. Best Pract Res Clin Obstet Gynaecol 2003;17: 19–40.

9. 9. Li S, Qayyum A, Coakley FV, Hricak H. Association of renal agenesis and mullerian duct anomalies. J Comput Assist Tomogr 2000;24(6):829-34.
10. 10. Lerman J, Mueller A, Wiesinger E, Haberle L, Brucker S, Wallwiener D et al. Comparison of differrent diagnostic procedures for the staging of molformations associated with Mayer-RokitanskyKuster-Hauser syndrome. Fertil Steril 2011,96:156- 159.
11. 11.Quint EH, Smith YR. Primary amenorreha in teenager. Obstet Gynecol 2006;107:414-417.
12. 12. Kang IJ, Lee SH, Lee SM, Lim CH, Yoon JH, Kim TW et al. A case of congenital single ectopic kidney in pelvis of patients with protein uria. Korean J Nephrol 2005;24:137-40.
13. 13. Van der Vaart CH, Van der Bom JG, de Leeuw JR, Roovers JPW, Heintz APM. The contribution of hysterectomy to the occurrence of urge and stress urinary incontinence symptoms. Br J Obstet Gynaecol 2002;109:149- 154.