Mayer-Rokitansky-Kuster-Hauser syndrome: Associated anomalies in a cohort of 77 patients

Alessandro Bulfoni, Francesca Motta, Giada Frontino, Daniela Alberico, Luigi Fedele

Research output: Contribution to journalArticle

Abstract

Objective: Mayer-Rokitansky-Kuster-Hauser is a syndrome with significant extragenital manifestations not entirely known so we programmed to evaluate all patients with a new diagnosis of MRKH syndrome who presented at our institute and completed the extensive diagnostic protocol proposed in consideration of past scientific literature. Study Design: Retrospective observational study including 77 women with a new diagnosis of Mayer- Rokitansky-Kuster-Hauser syndrome who underwent an extensive diagnostic protocol (pelvic ultrasound scan, urinary tract ultrasonogram, pelvic magnetic resonance imaging scan, spinal radiographs, audiometry test, echocardiography) in our referral center. Results: We found extragenital anomalies in 63/77 women (81.8%), urinary tract anomalies in 20/77 (25.9%), skeletal anomalies in 50/77 (64.9%), cardiac anomalies in 22/77 (28.6%), auditory defects in 14/77 (18.2%). Conclusions: Mayer-Rokitansky-Kuster-Hauser is a complex syndrome with extragenital manifestations suggesting a developmental origin of the defect and the need of an extensive diagnostic protocol for its management.

Original languageEnglish
Pages (from-to)43-51
Number of pages9
JournalItalian Journal of Gynaecology and Obstetrics
Volume31
Issue number1
DOIs
Publication statusPublished - Mar 1 2019

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Urinary Tract
Literature
Audiometry
Observational Studies
Echocardiography
Referral and Consultation
Retrospective Studies
Magnetic Resonance Imaging
Mullerian aplasia

Keywords

  • Mayer-Rokitansky-Kuster-Hauser syndrome
  • Mullerian anomalies
  • MURCS
  • Renal agenesis
  • Uterovaginal agenesis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

Mayer-Rokitansky-Kuster-Hauser syndrome : Associated anomalies in a cohort of 77 patients. / Bulfoni, Alessandro; Motta, Francesca; Frontino, Giada; Alberico, Daniela; Fedele, Luigi.

In: Italian Journal of Gynaecology and Obstetrics, Vol. 31, No. 1, 01.03.2019, p. 43-51.

Research output: Contribution to journalArticle

Bulfoni, Alessandro ; Motta, Francesca ; Frontino, Giada ; Alberico, Daniela ; Fedele, Luigi. / Mayer-Rokitansky-Kuster-Hauser syndrome : Associated anomalies in a cohort of 77 patients. In: Italian Journal of Gynaecology and Obstetrics. 2019 ; Vol. 31, No. 1. pp. 43-51.
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