MURCS association

MURCS association
Other namesMüllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
This condition can be inherited in an autosomal dominant manner(though not always)[1]
SpecialtyMedical genetics 
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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.

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
  1. Abbreviations: FSH follicle stimulating hormone, LH luteinizing hormone, MRI magnetic resonance imaging, US ultrasonography
  2. aTransabdominal US should be considered in younger patients.
  3. [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

  1. ↑ 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". www.orpha.net. Retrieved 1 August 2017. {{cite web}}: Check |url= value (help)
  2. ↑ "MURCS association". Genetic and Rare Diseases Information Center (GARD). Retrieved 1 November 2013.
  3. ↑ 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.
  4. ↑ 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. S2CID 9454103.
  5. ↑ Herlin, Morten Krogh; Petersen, Michael Bjørn; Brännström, Mats (December 2020). "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update". Orphanet Journal of Rare Diseases. 15 (1): 1–16. doi:10.1186/s13023-020-01491-9. ISSN 1750-1172. PMC 7439721.
  6. ↑ 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. PMC 7439721. PMID 32819397.
  7. ↑ 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. PMC 7439721. PMID 32819397.

References

  • "MURCS Association". National Organization for Rare Disorders, Inc. Archived from the original on 2013-11-03.
  • 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
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