The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia

Duncan, Peter A.; Shapiro, Lawrence R.; Stangel, John J.; Klein, Robert M.; Addonizio, Joseph C.

doi:10.1016/s0022-3476(79)80514-4

Cited by 219 publications

(127 citation statements)

References 18 publications

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“…Numerous women with MRKHS experience uterine pregnancy. The syndrome consists of sporadic type I and type II forms associated with renal and skeletal malformation, as well as auditory disorders (3,4). Types I and II MRKHS account for 44 and 56% of all cases, respectively (5).…”

Section: Introductionmentioning

confidence: 99%

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome

et al. 2017

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Abstract. Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a disease caused by congenital absence of the uterus and two-thirds of the upper vagina. The pathogenic mechanism of MRKHS may involve gene abnormalities, and there are various case reports associating MRKHS with the Wnt family member 4 (Wnt4) mutation. Analysis of genes mapped to regions in which deletion and duplication are frequently detected in patients with MRKHS has shown involvement of LIM homeobox 1 (LHX1), HNF1 homeobox B (HNF1B) and T-box 6 (TBX6). In addition, there are case reports of MRKHS caused by chromosomal translocation and epigenetic function may be involved in MRKHS onset. Overexpression of HOXA and overexposure to estrogen may contribute to the onset and regulation of expression by methylation as a pathogenic mechanism. Determination of the molecular basis of MRKHS is in progress, but current treatment only includes vaginal enlargement and vaginoplasty for improved quality of life. Clinical application of uterine transplantation to allow childbearing by MRKHS patients is under investigation and clinical trials are underway around the world.

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Section: Introductionmentioning

confidence: 99%

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome

et al. 2017

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“…It was first described by Duncan et al [3] in 1979.The occurrence of the MURCS association is sporadic, [4] and the etiology is still not clear; one hypothesis is that it results from an alteration of the blastema of the lower cervical and upper thoracic somites and pronephric ducts, which have an intimate spatial relationship in the fourth week of fetal development. [5] In addition to this hypothesis, Pavenello et al [6] presented a family in which three sisters had Müllerian anomalies, and their brother was azoospermic.…”

Section: Discussionmentioning

confidence: 99%

Duplicated urethra and a possible mullerian-renal-cervical spine (MURCS) association in a male child: a case report

Güneri¹,

Tunç²,

Polat³

et al. 2012

Turkish Journal of Urology

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We report on a 2-year-old boy who was referred to our clinic with recurrent urinary tract infections, neurogenic bladder dysfunction and duplicated urethra. The child was unable to void spontaneously, and a suprapubic catheter had been placed. We performed an internal urethrotomy on his patent urethra, but the procedure did not successfully restore spontaneous voiding. After the surgery, we evaluated the child for the presence of congenital syndromes, especially the MURCS (Mullerian-Renal-Cervical Spine) association. Six months later, the patient underwent a left orchiopexy procedure. There was no evidence of the right testis. This case shows that the male variant of the MURCS association may accompany miscellaneous urogenital anomalies such as renal agenesis, cross renal ectopy, vesicoureteral reflux, neurogenic bladder dysfunction, posterior urethral valve, duplicated urethra, bilateral/unilateral undescended testes or vanishing testis.Key words: Duplicated urethra; male; MURCS association; undescended testis. Bir erkek çocuktaki üretra dublikasyonu ve olası MURCS (müllerian-renal-servikal-spinal) sendorumu ÖZETBu olgu sunumunda kliniğimize üriner sistem enfeksiyonu, nörojenik mesane ve üretra dublikasyonu ile refere edilen 2 yaşındaki erkek çocuğu rapor etmekteyiz. Hasta başka bir merkezde spontan idrar yapamama nedeniyle suprapubik olarak kateterize edilmiş idi. Bu hastada internal üretrotomi prosedürü gerçekleştirdik. Ancak bu yolla da hastada spontan miksiyon izlenmedi. Altı ay sonra hastaya sol orşiopeksi işlemi uygulandı. Sağ testis izlenemedi. Bu olgu MURCS sendromu erkek varyantına renal agenezi, kros renal ektopi, vezikoüreteral reflü, nörojenik mesane, posterior üretral valf, üretra dublikasyonu, bilateral/ tek taraflı inmemiş testis ya da testis yokluğu gibi çok çeşitli ürogenital anomalilerin eşlik edebileceğini göstermektedir.

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“…The MURCS association first described by Duncan et al [1] is rare and includes non-random association of Müllerian duct aplasia or hypoplasia (MU), renal agenesis or ectopy (R), and cervicothoracic somite dysplasia. Rarely, the MURCS association may be designated for a real malformation because of multiple malformations.…”

Section: Discussionmentioning

confidence: 99%

“…Upper limb abnormalities are found in 24% of VATER Pelvic MRI 2-year-old Pelvic cake kidney, ovarian agenesis, uterine hypoplasia and a rudimentary vagina (Fig. 9) association patients, but are unusual in the MURCS association [1][2][3]. Torticollis is often a clinical manifestation of a congenital osseous cervical spine anomaly.…”

Section: Discussionmentioning

confidence: 99%

“…A number of syndromes are associated with spine pathology, one of the most notable being MURCS (Müllerian duct/renal aplasia-cervicothoracic somite dysplasia), VATER (Vertebral defects, Anal atresia or stenosis, Tracheo-Esophageal fistula, Radial defects and Renal anomalies, and VACTERL (Vertebral defects, Anal atresia or stenosis, Tracheo-Esophageal fistula, Renal anomalies, Cardiac defects and limb defects) associations [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

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The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis

et al. 2011

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The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.

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The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia

Cited by 219 publications

References 18 publications

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome

Duplicated urethra and a possible mullerian-renal-cervical spine (MURCS) association in a male child: a case report

The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis

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