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 language | English |
|---|---|
| Pages (from-to) | 43-51 |
| Number of pages | 9 |
| Journal | Italian Journal of Gynaecology and Obstetrics |
| Volume | 31 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Mar 1 2019 |
Fingerprint
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 journal › Article
}
TY - JOUR
T1 - Mayer-Rokitansky-Kuster-Hauser syndrome
T2 - Associated anomalies in a cohort of 77 patients
AU - Bulfoni, Alessandro
AU - Motta, Francesca
AU - Frontino, Giada
AU - Alberico, Daniela
AU - Fedele, Luigi
PY - 2019/3/1
Y1 - 2019/3/1
N2 - 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.
AB - 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.
KW - Mayer-Rokitansky-Kuster-Hauser syndrome
KW - Mullerian anomalies
KW - MURCS
KW - Renal agenesis
KW - Uterovaginal agenesis
UR - http://www.scopus.com/inward/record.url?scp=85067348673&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85067348673&partnerID=8YFLogxK
U2 - 10.14660/2385-0868-107
DO - 10.14660/2385-0868-107
M3 - Article
AN - SCOPUS:85067348673
VL - 31
SP - 43
EP - 51
JO - Italian Journal of Gynaecology and Obstetrics
JF - Italian Journal of Gynaecology and Obstetrics
SN - 1121-8339
IS - 1
ER -