A Case of Mayer–Rokitansky–Küster–Hauser Syndrome with a Fused Pancake-shaped Pelvic Kidney

Document Type : CASE REPORT


1 Department of Anatomical Science, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

2 Golestan Medical Imaging Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

3 School of Health and Biomedical Science, Royal Melbourne Institute of Technology University, Melbourne, Australia

4 Department of Radiologic Technology, Faculty of Paramedicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome is a female reproductive system disorder. It is characterized by a defect in the Müllerian ducts development, and it causes the absence of the uterus in variable degrees in upper vaginal hypoplasia. In addition, it is often associated with the unilateral renal dysplasia. Müllerian agenesis affects 1 in 4500 newborn girls and is considered as a sporadic anomaly. Women with MRKH Syndrome have a normal female chromosome pattern 46, XX with normal ovarian function. The presence of bilateral kidney agenesis with a pelvic pancake-shaped kidney is a rare condition, and a few cases have been reported in medical journals. This case study focuses on a case of MRKH Syndrome with bilateral renal agenesis and a pancake-shaped kidney.


Carlson BM. Human Embryology & Developmental Biology. 5th ed. Philadelphia: Elsevier Sunders; 2014. p. 2-12.  Back to cited text no. 1
Folch M, Pigem I, Konje JC. Müllerian agenesis: Etiology, diagnosis, and management. Obstet Gynecol Surv 2000;55:644-9.  Back to cited text no. 2
Morcel K, Guerrier D, Watrin T, Pellerin I, Levêque J. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: Clinical description and genetics. J Gynecol Obstet Biol Reprod (Paris) 2008;37:539-46.  Back to cited text no. 3
Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, et al. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. Fertil Steril 2017;108:145-51.  Back to cited text no. 4
Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis 2007;2:13.  Back to cited text no. 5
The American fertility society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, Müllerian anomalies and intrauterine adhesions. Fertil Steril 1988;49:944-55.  Back to cited text no. 6
Oppelt PG, Lermann J, Strick R, Dittrich R, Strissel P, Rettig I, et al. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Reproductive biology and endocrinology. 2012;10:57.  Back to cited text no. 7
Sultan C, Lumbroso S, Paris F, Jeandel C, Terouanne B, Belon C, et al. Disorders of androgen action. Semin Reprod Med 2002;20:217-28.  Back to cited text no. 8
Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004;351:1227-38.  Back to cited text no. 9
Pittock ST, Babovic-Vuksanovic D, Lteif A. Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations. Am J Med Genet A 2005;135:314-6.  Back to cited text no. 10
Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – Phenotypic manifestations and genetic approaches. J Negat Results Biomed 2006;5:1.  Back to cited text no. 11
Fraser IS, Baird DT, Hobson BM, Michie EA, Hunter W. Cyclical ovarian function in women with congenital absence of the uterus and vagina. J Clin Endocrinol Metab 1973;36:634-7.  Back to cited text no. 12
Kobayashi A, Behringer RR. Developmental genetics of the female reproductive tract in mammals. Nat Rev Genet 2003;4:969-80.  Back to cited text no. 13