MURCS association
Medical condition
From Wikipedia, the free encyclopedia
MURCS association (or type 2 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.
| 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)[1] | |
| Specialty | Medical genetics  |
Signs and symptoms
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome type 2 is characterized by congenital uterovaginal agenesis associated with a variable spectrum of extragenital anomalies. Affected individuals typically have a normal female karyotype (46,XX), preserved ovarian function, and normal development of secondary sexual characteristics. The gynecological presentation most commonly includes primary amenorrhea due to absence of the uterus and the upper two-thirds of the vagina, often identified during adolescence or early adulthood.
Extravaginal manifestations distinguish type 2 (atypical) MRKH and may involve multiple organ systems. Renal anomalies are among the most frequent findings and include pelvic kidneys, horseshoe kidney, or renal agenesis. Skeletal abnormalities are also common and may present as vertebral fusion, scoliosis, butterfly vertebrae, or cervical ribs, reflecting disruptions in axial skeletal development. Additional reported anomalies include gastrointestinal malformations such as annular pancreas and rare hepatic variants, such as castor tail-like liver.[4]
Cardiovascular involvement, although less frequent, can be clinically significant. Congenital heart defects such as atrial septal defects may remain undiagnosed until adulthood and can manifest with progressive dyspnea, palpitations, peripheral cyanosis, pulmonary hypertension, or cerebrovascular events secondary to paradoxical embolism. Symptoms may be insidious and attributed to other conditions, contributing to delayed diagnosis.
The clinical presentation of MRKH type 2 is therefore heterogeneous and depends on the number and severity of associated malformations. This variability underscores the importance of systematic multisystem evaluation in individuals diagnosed with MRKH to allow early detection and management of potentially serious associated anomalies.
Genetics
Genetic heterogeneity is observed in MURCS association.[5]
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.
- [6]
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.[7]
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.[8]