title: Phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser syndrome in a Chinese population: an analysis of 594 patients.
abstract: OBJECTIVE
  To analyze the phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  Five hundred and ninety-four patients with MRKH syndrome.
  
  
  METHODS
  Clinical examination, abdominal or perineal/rectal ultrasound, magnetic resonance imaging, hormonal profile, karyotype, and laparoscopy.
  
  
  METHODS
  Clinicopathologic data, VCUAM (vagina cervix uterus adnex-associated malformation) classification, types with cycle phase, and karyotype.
  
  
  RESULTS
  We identified associated malformations in 43 out of 594 (7.2%) cases of MRKH. The 594 patients could be grouped into hormone phases: 53.7% follicular, 35.2% luteal, and 11.1% ovulatory. The major karyotype of MRKH patients was 46,XX; abnormal karyotypes were found in two cases.
  
  
  CONCLUSIONS
  A lower proportion of associated malformations were found when compared with those provided in the current literature. Renal anomalies were the most frequent associated malformations, and most of the patients presented with a normal karyotype. Given the large cohort of this study, the lower malformation rates might be related to geographic or referral patterns, so further investigation is warranted.
authors.affiliation: Department of Obstetrics and Gynecology, Affiliated Luohu Hospital of Shenzhen University, Shenzhen, Guangdong, People's Republic of China.
authors.forename: Hong-Xin
authors.initials: HX
authors.lastname: Pan
authors.affiliation: Department of Obstetrics and Gynecology, Affiliated Luohu Hospital of Shenzhen University, Shenzhen, Guangdong, People's Republic of China. Electronic address: vinsonpan@126.com.
authors.forename: Guang-Nan
authors.initials: GN
authors.lastname: Luo
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000290:Adnexa Uteri / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D002584:Cervix Uteri / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D002648:Child; D002681:China; D041321:Chromosomes, Human, X; D000013:Congenital Abnormalities / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003430:Cross-Sectional Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006728:Hormones / Q000097:blood; D006801:Humans; D059785:Karyotype; D007621:Karyotyping; D010535:Laparoscopy; D008279:Magnetic Resonance Imaging; D008597:Menstrual Cycle / Q000097:blood; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000503:physiopathology; D010641:Phenotype; D014463:Ultrasonography; D014621:Vagina / Q000002:abnormalities* / Q000000981:diagnostic imaging; D055815:Young Adult
chemical_list: D015415:Biomarkers; D006728:Hormones
keywords: Abnormal karyotype; MRKH syndrome; VCUAM classification; malformations; pituitary and steroid hormones