MURCS association explained
| MURCS association |
| Synonyms: | Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder[1] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities.[2] It affects only females.
Genetics
Genetic heterogeneity is observed in MURCS association.[3]
Diagnosis
| Examination | Typical findings |
|---|
| Physical examination including a precautious pelvic exam by an experienced pediatric/adolescent gynecologist. | Normal height, secondary sex characteristics, and hair growth.Normal external genitalia.Short blind-ending vagina (0–3 cm) with no cervix at the apex.No uterus detected by manual palpation. |
| Radiologic examination |
| US of internal genitalia (transvaginal/−perineal)a | No uterus or vaginal canal.Two functional ovaries. |
| Pelvic MRI scan | Confirms the diagnosis.Determines the presence of rudimentary uterine buds or complete uterovaginal agenesis |
| Renal scan (by US or MRI) | Renal abnormalities are found in approximately 30% of patients |
| Consider examinations for other associated malformations (e.g. EOS scan, otorhinopharyngeal assessment and echocardiography | Various skeletal malformations (axis and limbs), hearing impairment and congenital heart defects (rare). |
| Biochemical analysis |
| Gonadotropins (FSH, LH) | Normal levels following menstrual cycle |
| Estradiol | Normal levels |
| Androgen status | Normal female levels |
| Chromosomal analysis (can be used to differentiate from 46,XY DSDs) | 46,XX | |
- Abbreviations: FSH follicle stimulating hormone, LH luteinizing hormone, MRI magnetic resonance imaging, US ultrasonography
- aTransabdominal US should be considered in younger patients.
- [4]
Treatment
Management of vaginal agenesis: correction of vaginal agenesis in MRKH syndrome with creation of a functional neovagina has been a hallmark in the treatment. Various different surgical and non-surgical methods have been suggested for vaginal construction.[5]
Infertility and uterus transplantation (UTx): Uterus transplantation (UTx) has now emerged as the first true infertility treatment for women with MRKH syndrome and giving them full (gestational, genetic, legal) motherhood from start.[6]
References
- Web site: MURCS Association. National Organization for Rare Disorders, Inc.. dead. https://web.archive.org/web/20131103031841/http://icmmt.alere.com/kbase/nord/nord1059.htm. 2013-11-03.
- Duncan. PA. Shapiro, LR . Stangel, JJ . Klein, RM . Addonizio, JC . The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.. The Journal of Pediatrics. September 1979. 95. 3. 399–402. 469663. 10.1016/s0022-3476(79)80514-4.
- Greene. RA. Bloch, MJ . Huff, DS . Iozzo, RV . MURCS association with additional congenital anomalies.. Human Pathology. January 1986. 17. 1. 88–91. 3510965. 10.1016/s0046-8177(86)80160-5.
- Herlin, M.K., Petersen, M.B. & Brännström, M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis 15, 214 (2020). https://doi.org/10.1186/s13023-020-01491-9
Notes and References
- Web site: MURCS association. Genetic and Rare Diseases Information Center (GARD). 1 November 2013. 5 September 2015. https://web.archive.org/web/20150905122330/https://rarediseases.info.nih.gov/gard/5513/murcs-association/resources/1. dead.
- Mahajan. P. Kher, A . Khungar, A . Bhat, M . Sanklecha, M . Bharucha, BA . MURCS association--a review of 7 cases.. Journal of Postgraduate Medicine. Jul–Sep 1992. 38. 3. 109–11. 1303407.
- Hofstetter. G. Concin, N . Marth, C . Rinne, T . Erdel, M . Janecke, A . Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).. Wiener klinische Wochenschrift. 2008. 120. 13–14. 435–9. 10.1007/s00508-008-0995-4. 18726671. 9454103.
- Herlin. Morten Krogh. Petersen. Michael Bjørn. Brännström. Mats. December 2020. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet Journal of Rare Diseases. en. 15. 1. 214 . 10.1186/s13023-020-01491-9 . 32819397 . 7439721. 1750-1172 . free .
- Herlin. Morten Krogh. Petersen. Michael Bjørn. Brännström. Mats. 2020-08-20. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet Journal of Rare Diseases. 15. 1. 214. 10.1186/s13023-020-01491-9 . 1750-1172. 7439721. 32819397 . free .
- Herlin. Morten Krogh. Petersen. Michael Bjørn. Brännström. Mats. 2020-08-20. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet Journal of Rare Diseases. 15. 1. 214. 10.1186/s13023-020-01491-9. 1750-1172. 7439721. 32819397 . free .
