Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.
OBJECTIVE
To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype.


METHODS
A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015.


RESULTS
Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies. Thirty-eight patients (55,9% of cases with concomitant malformations, 30,4% of the entire study group) had coexisting anomalies of at least two organ systems. The most frequent extragenital malformations were skeletal anomalies found in 40 patients (32%) and renal anomalies found in 36 patients (28,8%). Fifty-seven patients (45,6%) were diagnosed with typical form (type 1) and 16 (12,8%) with the atypical form (type 2) of MRKHS. In the other 52 patients (41,6%) we diagnosed MURCS association. Five of our patients (4%) had karyotype abnormalities.


CONCLUSIONS
Our study confirms complexity and clinical heterogeneity of MRKHS. Concomitant congenital malformations are present in about half of MRKHS women. A significant proportion of patients have coexisting anomalies of at least two organ systems. The most common coexisting findings are musculoskeletal and renal abnormalities. Chromosomal aberrations may be present in patients with either typical or atypical form of MRKHS.
Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland. Electronic address: karkap@umed.poznan.pl.
Karina
K
Kapczuk
Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland.
Kinga
K
Iwaniec
Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland.
Zbigniew
Z
Friebe
Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland.
Witold
W
Kędzia
D058489:46, XX Disorders of Sex Development / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D015331:Cohort Studies; D015897:Comorbidity; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006552:Hernia, Inguinal / Q000453:epidemiology; D006785:Hospitals, University; D006801:Humans; D015994:Incidence; D007668:Kidney / Q000002:abnormalities; D008499:Medical Records; D008875:Middle Aged; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000503:physiopathology; D010044:Outpatient Clinics, Hospital; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D012189:Retrospective Studies; D014551:Urinary Tract / Q000002:abnormalities; D055815:Young Adult
Associated malformations; Chromosomal aberrations; Karyotype abnormalities; MRKH syndrome; Rokitansky syndrome