MURCS association

{{Infobox medical condition (new)

| name = MURCS association

| synonyms = Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome

| image = Autosomal dominant - en.svg

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| caption = This condition can be inherited in an autosomal dominant manner(though not always){{Cite web |date=2024-05-28 |title=Orphanet: Mayer-Rokitansky-Küster-Hauser syndrome type 2 |url=https://www.orpha.net/en/disease/detail/2578 |access-date=2024-06-12 |website=Orphanet}}

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MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder{{Cite web |title=MURCS association |url=http://rarediseases.info.nih.gov/gard/5513/murcs-association/resources/1 |url-status=dead |archive-url=https://web.archive.org/web/20150905122330/https://rarediseases.info.nih.gov/gard/5513/murcs-association/resources/1 |archive-date=5 September 2015 |access-date=1 November 2013 |publisher=Genetic and Rare Diseases Information Center (GARD)}} that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities.{{Cite journal |last=Mahajan |first=P |last2=Kher, A |last3=Khungar, A |last4=Bhat, M |last5=Sanklecha, M |last6=Bharucha, BA |date=Jul–Sep 1992 |title=MURCS association--a review of 7 cases. |journal=Journal of Postgraduate Medicine |volume=38 |issue=3 |pages=109–11 |pmid=1303407}} It affects only females.

Signs and symptoms

Genetics

Genetic heterogeneity is observed in MURCS association.{{Cite journal |last=Hofstetter |first=G |last2=Concin, N |last3=Marth, C |last4=Rinne, T |last5=Erdel, M |last6=Janecke, A |year=2008 |title=Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). |journal=Wiener klinische Wochenschrift |volume=120 |issue=13–14 |pages=435–9 |doi=10.1007/s00508-008-0995-4 |pmid=18726671 |s2cid=9454103}}

Diagnosis

class="wikitable"

!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.

colspan="2" |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).

colspan="2" |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.
{{Cite journal |last=Herlin |first=Morten Krogh |last2=Petersen |first2=Michael Bjørn |last3=Brännström |first3=Mats |date=December 2020 |title=Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update |journal=Orphanet Journal of Rare Diseases |language=en |volume=15 |issue=1 |page=214 |doi=10.1186/s13023-020-01491-9 |issn=1750-1172 |pmc=7439721 |pmid=32819397 |doi-access=free}}

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.{{Cite journal |last=Herlin |first=Morten Krogh |last2=Petersen |first2=Michael Bjørn |last3=Brännström |first3=Mats |date=2020-08-20 |title=Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update |journal=Orphanet Journal of Rare Diseases |volume=15 |issue=1 |pages=214 |doi=10.1186/s13023-020-01491-9 |issn=1750-1172 |pmc=7439721 |pmid=32819397 |doi-access=free}}

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.{{Cite journal |last=Herlin |first=Morten Krogh |last2=Petersen |first2=Michael Bjørn |last3=Brännström |first3=Mats |date=2020-08-20 |title=Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update |journal=Orphanet Journal of Rare Diseases |volume=15 |issue=1 |pages=214 |doi=10.1186/s13023-020-01491-9 |issn=1750-1172 |pmc=7439721 |pmid=32819397 |doi-access=free}}

Notes

References

{{Cite web |title=MURCS Association |url=http://icmmt.alere.com/kbase/nord/nord1059.htm |url-status=dead |archive-url=https://web.archive.org/web/20131103031841/http://icmmt.alere.com/kbase/nord/nord1059.htm |archive-date=2013-11-03 |publisher=National Organization for Rare Disorders, Inc.}}
{{Cite journal |last=Duncan |first=PA |last2=Shapiro, LR |last3=Stangel, JJ |last4=Klein, RM |last5=Addonizio, JC |date=September 1979 |title=The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. |journal=The Journal of Pediatrics |volume=95 |issue=3 |pages=399–402 |doi=10.1016/s0022-3476(79)80514-4 |pmid=469663}}
{{Cite journal |last=Greene |first=RA |last2=Bloch, MJ |last3=Huff, DS |last4=Iozzo, RV |date=January 1986 |title=MURCS association with additional congenital anomalies. |journal=Human Pathology |volume=17 |issue=1 |pages=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