Vaginal bleeding in a misdiagnosed Mayer-Rokitansky-Küster-Hauser syndrome.

Abstract

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. However, after vaginal bleeding compatible with menstruation, repeat transabdominal ultrasonography and MRI revealed a left-deviated unicornuate uterus.

• Authors: Mireia Tugues, Bernardo Nuñez, Raquel Corripio
• Journal: BMJ case reports (BMJ Case Rep) Vol. 14 Issue 4 (Apr 05 2021) ISSN: 1757-790X [Electronic] England
• PMID: 33820806 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Topics

• 46, XX Disorders of Sex Development (complications, diagnosis)
• Adolescent
• Congenital Abnormalities (diagnostic imaging)
• Diagnostic Errors
• Female
• Humans
• Mullerian Ducts (abnormalities, diagnostic imaging)
• Uterine Hemorrhage (etiology)
• Uterus (diagnostic imaging)
• Vagina (diagnostic imaging)