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Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.
- Source :
-
European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2016 Dec; Vol. 207, pp. 45-49. Date of Electronic Publication: 2016 Oct 26. - Publication Year :
- 2016
-
Abstract
- 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.<br />Study Design: 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.<br />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.<br />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.<br /> (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)
- Subjects :
- 46, XX Disorders of Sex Development epidemiology
46, XX Disorders of Sex Development genetics
Abnormal Karyotype
Abnormalities, Multiple epidemiology
Abnormalities, Multiple genetics
Adolescent
Adult
Bone and Bones abnormalities
Cohort Studies
Comorbidity
Congenital Abnormalities epidemiology
Congenital Abnormalities genetics
Female
Hernia, Inguinal epidemiology
Hospitals, University
Humans
Incidence
Kidney abnormalities
Medical Records
Middle Aged
Mullerian Ducts physiopathology
Outpatient Clinics, Hospital
Poland epidemiology
Prevalence
Retrospective Studies
Urinary Tract abnormalities
Young Adult
46, XX Disorders of Sex Development physiopathology
Abnormalities, Multiple physiopathology
Congenital Abnormalities physiopathology
Mullerian Ducts abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1872-7654
- Volume :
- 207
- Database :
- MEDLINE
- Journal :
- European journal of obstetrics, gynecology, and reproductive biology
- Publication Type :
- Academic Journal
- Accession number :
- 27825026
- Full Text :
- https://doi.org/10.1016/j.ejogrb.2016.10.014