Abstract
Mayer-Rokitansky-Küster-Hauser sendromu, mülleriyen kanalın embriyonik gelişimdeki duraksama sonucunda ortaya çıkan, uterus ve üst (2/3) vajinanın konjenital aplazisidir. Büyüme ve gelişme geriliği göstermeyen bu hastalar normal karyotipe sahip olup yaklaşık 1/3’ünde üriner sistem anomalileri ve %10’unda da iskelet anomalileri mevcuttur. Ergenlik çağında genellikle amenore nedeniyle kliniğe başvururlar. Primer amenore ile kliniğimize başvuran 14 yaşında, 162 cm boyundaki hastanın meme gelişiminin tanner evre 3 olup aksiller ve pubik kıllanmasının normal olduğu görüldü. Sekonder seks karakterleri ve hormon profili normal olup Pelvik Ultrasonografi’sinde ve MR görüntüleme sonucunda uterus ve vajen üst 2/3 agenezisi saptandı. Karyotip analizi sonucu 46, XX olan hastanın, muhtemel Y kromozom fragmanın varlığı açısından değerlendirmek için yapılan Y kromozom mikrodelesyon analizi ve SRY mutasyon analizi, Y kromozomunun ve SRY geninin bulunmadığını gösterdi. İskelet sistemi incelemesinde hastada pes planus deformitesi tespit edildi. Pes planus’un, mülleriyen kanal anomalileri gibi MRKH sendromu ile birlikteliğine literatürde rastlanmamıştır. Olgumuzda Mayer-Rokitansky-Küster-Hauser Sendromu’na eşlik eden pes planus birlikteliği, olguyu literatürde görülen tipik Mayer-Rokitansky-Küster-Hauser sendromu olgularından farklı kılmaktadır. Bu olgu sunumu ile Mayer-Rokitansky-Küster-Hauser sendromunun, primer amenore nedenleri arasında düşünülmesi gerektiği ve bu sendroma %10 oranında eşlik ettiği bilinen iskelet anomalilerine pes planusun da eklenebileceği vurgulanmak istenmiştir.
Keywords
primer amenore MayerRokitansky-Küster-Hauser sendromu mülleriyen kanal anomalileri pes planus
References
- Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS, Strissel PL, Strick R, Wallwiener D, Beckmann MW. Clinical aspects of Mayer-Rokitansky- Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Human Reproduction 2006;21:792-7. Üstüner I, Keskin L, Öztürk Ö, Özyiğit E, Avşar AF. Mayer-Rokitansky-Kuster-Hauser (MRKH) Sendromu. Yeni Tıp Dergisi 2008;25:24l-4.
- Morcel K, Camborieux L, Programme de Recherches sur les Aplasies Mülleriennes, Guerrier D. Mayer- Rokitansky-Küster—Hauser (MRKH) syndrome. Orphanet Journal of Rare Diseases 2007;2: 13.
- Duncan PA, Shapiro LR, Stangel JJ , Klein RM, Addonizio JC. The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 1979;95(3):399-402.
- Folch M, Pigem I, Konje J C. Müllerian agenesis: etiology, diagnosis, and management. Obstet Gynecol Surv 2000;55(10):644-9.
- Hauser GA, Schrelner WE. Mayer-Rokitansky-Kuester syndrome. Rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr 1961;91:381-4.
- 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.
- Ravel C, Bashamboo A, Bignon—Topalovic J, Siffroi JP, McElreavey K, Darai E. Polymorphisms in DLGH1 and 10. Resendes BL, Sohn SH, Stelling JR, Tineo R, Davis AJ, Gray MR, Reindollar RH. Role for anti-Mullerian
- Sadler TW. Ürogenital Sistem. Başaklar AC Ed., Langman's Medikal Embriyoloji, 6. Baskı, Ankara, Palme
- Jabeen Mahe. Mayer-R0kitansky-Kuster-Hauser syndro- me. World Journal ofLaparoscopic Surgery 2011;4(2): 123.
- Breech LL, Laufer MR. Developmental abnormalities of the female reproductive tract. Curr Opin Obstet Gynecol 1999;11(5):441-50.
- Manusov EG, Lillegard WA, Raspa RF, Epperly TD. Evaluation of pediatric foot problems: Part II. The hindfoot
- Wenger DR, Leach J. Foot deformities in infants and children. Pediatr Clin North Am 1986;33(6):1411-27.
- Bordin D, De Giorgi G, Mazzocco G, Rigon F. Flat and cavus foot, indexes of obesity and overweight in a
- population of primary-school children. Minerva Pediatr 2001;53(1):7-1.
Abstract
References
- Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS, Strissel PL, Strick R, Wallwiener D, Beckmann MW. Clinical aspects of Mayer-Rokitansky- Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Human Reproduction 2006;21:792-7. Üstüner I, Keskin L, Öztürk Ö, Özyiğit E, Avşar AF. Mayer-Rokitansky-Kuster-Hauser (MRKH) Sendromu. Yeni Tıp Dergisi 2008;25:24l-4.
- Morcel K, Camborieux L, Programme de Recherches sur les Aplasies Mülleriennes, Guerrier D. Mayer- Rokitansky-Küster—Hauser (MRKH) syndrome. Orphanet Journal of Rare Diseases 2007;2: 13.
- Duncan PA, Shapiro LR, Stangel JJ , Klein RM, Addonizio JC. The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 1979;95(3):399-402.
- Folch M, Pigem I, Konje J C. Müllerian agenesis: etiology, diagnosis, and management. Obstet Gynecol Surv 2000;55(10):644-9.
- Hauser GA, Schrelner WE. Mayer-Rokitansky-Kuester syndrome. Rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr 1961;91:381-4.
- 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.
- Ravel C, Bashamboo A, Bignon—Topalovic J, Siffroi JP, McElreavey K, Darai E. Polymorphisms in DLGH1 and 10. Resendes BL, Sohn SH, Stelling JR, Tineo R, Davis AJ, Gray MR, Reindollar RH. Role for anti-Mullerian
- Sadler TW. Ürogenital Sistem. Başaklar AC Ed., Langman's Medikal Embriyoloji, 6. Baskı, Ankara, Palme
- Jabeen Mahe. Mayer-R0kitansky-Kuster-Hauser syndro- me. World Journal ofLaparoscopic Surgery 2011;4(2): 123.
- Breech LL, Laufer MR. Developmental abnormalities of the female reproductive tract. Curr Opin Obstet Gynecol 1999;11(5):441-50.
- Manusov EG, Lillegard WA, Raspa RF, Epperly TD. Evaluation of pediatric foot problems: Part II. The hindfoot
- Wenger DR, Leach J. Foot deformities in infants and children. Pediatr Clin North Am 1986;33(6):1411-27.
- Bordin D, De Giorgi G, Mazzocco G, Rigon F. Flat and cavus foot, indexes of obesity and overweight in a
- population of primary-school children. Minerva Pediatr 2001;53(1):7-1.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Articles |
| Authors | |
| Publication Date | May 5, 2015 |
| Submission Date | May 4, 2015 |
| Published in Issue | Year 2013 Volume: 6 Issue: 3 |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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