P-192: The Study of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Polymorphisms in Iranian Patients with Mayer Rokitansky Kuster Hauser Syndrome

Mayer-Rokitansky-Kuster-Hauser Syndrome.

Mayer-Rokitansky-Küster-Hauser Syndrome is a congenital malformation in which there is failure of the Müllerian ducts to develop resulting in absent uterus and fallopian tubes and variable malformations of the vagina. Ultrasonography reveals absence of uterus with normally visualised ovaries.

Mayer-Rokitansky-Kuster-Hauser syndrome: a review

The congenital aplasia or severe hypoplasia of mullerian structures is infrequent. However, the features of normal female endocrine function paired with the absence of a functional uterus and vagina makes it a fascinating entity. The diagnosis and work-up in these patients has become very efficient, thanks to the use of imaging, and there are multiple successful procedures for the creation of a...

Mayer-Rokitansky-Kuster-Hauser syndrome associated with rectovestibular fistula

A female neonate with two openings in the introitus and an absent anal opening at the anal site presents a diagnostic challenge. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome associated with rectovestibular fistula, though rare, should be kept in mind as a differential diagnosis of this presentation. We present such a case in a one-year-old female child with MRKH syndrome and rectovestibular f...

MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome.

PURPOSE The aim of this study was to establish the role of magnetic resonance imaging (MRI) in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS). MATERIALS AND METHODS Sixteen female MRKHS patients (mean age, 19.4 years; range, 11-39 years) were studied using MRI. Two experienced radiologists evaluated all the images in consensus to assess the presence or absence of the ovaries, u...

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Mullerian hormone and its receptor, as well as on Wt1, Pax2, Cftr and Hox genes, have been unproductiv...

Vaginal Agenesis in Mayer Rokitansky Kuster Hauser Syndrome.