Medicine:MURCS association
From HandWiki
| MURCS association | |
|---|---|
| Other names | Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
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| This condition can be inherited in an autosomal dominant manner(though not always)[1] | |
MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder[2] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities.[3] It affects only females.
Signs and symptoms
Genetics
Genetic heterogeneity is observed in MURCS association.[4]
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.
- [5]
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.[6]
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.[7]
Notes
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. of diseases=Mayer-Rokitansky-Kuster-Hauser-syndrome-type-2&title=Mayer-Rokitansky-Kuster-Hauser-syndrome-type-2&search=Disease_Search_Simple "Orphanet: Mayer Rokitansky Kuster Hauser syndrome type 2" (in en). http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2378&Disease_Disease_Search_diseaseGroup=MURCS-association&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Mayer-Rokitansky-Kuster-Hauser-syndrome-type-2&title=Mayer-Rokitansky-Kuster-Hauser-syndrome-type-2&search=Disease_Search_Simple. Retrieved 1 August 2017.
- ↑ "MURCS association". Genetic and Rare Diseases Information Center (GARD). http://rarediseases.info.nih.gov/gard/5513/murcs-association/resources/1. Retrieved 1 November 2013.
- ↑ Mahajan, P; Kher, A; Khungar, A; Bhat, M; Sanklecha, M; Bharucha, BA (Jul–Sep 1992). "MURCS association--a review of 7 cases.". Journal of Postgraduate Medicine 38 (3): 109–11. PMID 1303407.
- ↑ Hofstetter, G; Concin, N; Marth, C; Rinne, T; Erdel, M; Janecke, A (2008). "Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).". Wiener klinische Wochenschrift 120 (13–14): 435–9. doi:10.1007/s00508-008-0995-4. PMID 18726671.
- ↑ Herlin, Morten Krogh; Petersen, Michael Bjørn; Brännström, Mats (December 2020). "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update" (in en). Orphanet Journal of Rare Diseases 15 (1): 214. doi:10.1186/s13023-020-01491-9. ISSN 1750-1172. PMID 32819397.
- ↑ 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. doi:10.1186/s13023-020-01491-9. ISSN 1750-1172. PMID 32819397.
- ↑ 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. doi:10.1186/s13023-020-01491-9. ISSN 1750-1172. PMID 32819397.
References
- "MURCS Association". National Organization for Rare Disorders, Inc.. Archived from the original on 2013-11-03. https://web.archive.org/web/20131103031841/http://icmmt.alere.com/kbase/nord/nord1059.htm.
- Duncan, PA; Shapiro, LR; Stangel, JJ; Klein, RM; Addonizio, JC (September 1979). "The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.". The Journal of Pediatrics 95 (3): 399–402. doi:10.1016/s0022-3476(79)80514-4. PMID 469663.
- Greene, RA; Bloch, MJ; Huff, DS; Iozzo, RV (January 1986). "MURCS association with additional congenital anomalies.". Human Pathology 17 (1): 88–91. doi:10.1016/s0046-8177(86)80160-5. PMID 3510965.
- 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
External links
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