| MURCS association | |
|---|---|
| Other names | Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
 | |
| This condition can be inherited in an autosomal dominant manner(though not always) | |
| Specialty |
Medical genetics 
|
MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities. It affects only females.
Signs and symptoms
Genetics
Genetic heterogeneity is observed in MURCS association.
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.
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.
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.
- "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