Mayer-Rokıtansky-Kuster-Hauser Ve Polikistik Over Sendromu Birlikteliği

Mayer-Rokitansky-Kuster-Hauser (MRKH) Sendromu, müller kanallarının gelişimsel bozukluğu sonrası ortaya çıkan utero-vajinal atrezi ile karakterize bir hastalıktır. Kızlarda görülme sıklığı yaklaşık olarak 1/4500 canlı doğumdur. Sekonder amenorenin en sık rastlanan ikinci nedenidir. Özellikle atipik MRKH sendromunda over anomalileri saptanabilir, fakat polikistik over sendromu ile MRKH sendromu birlikteliği literatürde oldukça nadir olarak bildirilmiştir. Burada kliniğimize kısa boy, amenore ve hirsutizm yakınmaları ile başvurup MRKH sendromu ve polikistik over sendromu tanısı alan 13 yaşında kız olgu sunulmuştur.

Anahtar Kelimeler:

Mayer-Rokitansky-Kuster-Hauser Sendromu, Polikistik Over Sendromu

MAYER-ROKITANSKY-KUSTER-HAUSER AND POLYCYSTIC OVARY SYNDROME ASSOCCIATION

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is a disorder characterized by utero-vaginal agenesis which result from interrupted embryonic development of the mullerian ducts. The incidence in girls is approximately 1/4500. It is the second most common cause of primary amenorhea. Ovarian anomalies may be seen especially in atypical form of the disease, but the association of polycystic ovary syndrome and MRKH syndrome has been reported extremely rare in the literature. Here we presented a 13 years old female patient who was admitted to our outpatient clinic because of short stature, amenorrhea and hirsutism and diagnosed as MRKH syndrome and polycystic ovary syndrome

Keywords:

Mayer-Rokitansky-Kuster-Hauser Syndrome, Polycystic Ovary Syndrome,

PDF

___

Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Lud- wig KS, Strissel PL, Strick R, Wallwiener D, Beckmann MW.. Cli- nical aspects of Mayer–Rokitansky–Kuester–Hauser syndrome: recommendations for clinical diagnosis and staging. Human Rep- roduction 2006; 21: 792–797.
Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer- Rokitansky-Küster-Hauser syndrome (congenital absence of ute- rus and vagina) – phenotypic manifestations and genetic approac- hes. J Negat Results Biomed 2006;27:5-11.
Plevraki E, Kita M, Goulis DG, Hatnisevastou-Loukidou H, Lambropoulos AF, avramides A. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Kuster-Hauser syndrome. Fer- til Steril 2004;81:689-692.
Takeuchi K, Oomori S, Oda N, Maeda K, Kaji Y, Maro T. Coexis- tence of Mayer-Rokitansky-Kustner-Hauser syndrome and yolk sac tumor of the ovary in a prepubertal girl. Acta Obstet Gynecol Scand 2006;85:245-247.
Griffin JE, Edwards C, Madden JD, Harrod MJ and Wilson JD. Congenital absence of the vagina. The Mayer-Rokitansky-Kuster- Hauser syndrome. Ann Intern Med 1976; 85,224–236.
Schmid-Tannwald I and Hauser GA. [Atypical forms of the Ma- yer– Rokitansky–Kuester syndrome (author’s transl)]. Geburtshil- fe Frauenheilkd 1977; 37:386–392.
Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS association: Müllerian duct aplasia, renal aplasia, and cer- vicothoracic somite dysplasia. J Pediatr 1979; 95:399–402.
Pellicano M, Penner I, Connola D, Cascone D, Sorrentino V, Gargano V, Masucci A, Stella N, Nappi C. Voluminous ectopic polycystic ovaries in Mayer-Rokitansky-Kuster-Hauser syndrome. Minerva Ginecol. 2005;57:655-658.
Ugur M, Karakaya S, Zorlu G, Arslan S, Gülerman C, Kükner S, Gökmen O. Polycystic ovaries in association with mullerian ano- malies. Eur J Obstet Gynecol Reprod Biol 1995; 62:57-59.
Appelman Z, Hazan Y, Hagay Z. High prevalence of müllerian anomalies diagnosed by ultrasound in women with polycystic ova- ries. J Reprod Med 2003; 48:362-364.
Biason-Lauber A, Konrad, D, Navratil F, Schoenle EJ. A WNT4 mutation associated with Mullerian-duct regression and virilizati- on in a 46,XX woman. New Eng J Med 2004;351:792-798.
Resendes BL, Sohn SH, Stelling JR, Tineo R, Davis AJ, Gray MR, Reindollar RH. Role for anti-Mullerian hormone in conge- nital absence of the uterus and vagina. Am J Med Genet 2001; :129–136.
Oppelt P, Strissel PL, Kellermann A, Seeber S, Humeny A, Beck- mann MW, Strick R. DNA sequence variations of the entire anti- Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome. Hum Reprod 2005; 20: 149–157.
Van Lingen BL, Reindollar RH, Davis AJ, Gray MR. Further evi- dence that the WT1 gene does not have a role in the development of the derivatives of the mullerian duct. Am J Obstet Gynecol ;179:597–603. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analy- sis of the anti-Mullerian hormone, the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer–Rokitansky–Kuster–Hauser syndrome. Arch Gynecol Obstet 2004;269:270–273.
The Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome
(PCOS). Human Reproduction 2004; 19: 41–47.
Takeuchi K, Oomori S, Oda N, Maeda K, Kaji Y, Marvo T. Co- existence of Mayer-Rokitansky-Kustner-Hauser syndrome and yolk sac tumor of the ovary in a prepubertal girl. Acta Obstet Gynecol Scand. 2006;85:245-247.