MURCS association | |
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Other names | Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
This condition can be inherited in an autosomal dominant manner(though not always)[1] | |
Specialty | Medical genetics |
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.
Genetic heterogeneity is observed in MURCS association.[4]
Examination | Typical findings |
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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 |
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]