Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome
نویسندگان
چکیده
منابع مشابه
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.
متن کاملMayer-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...
متن کاملMayer-Rokitansky-Küster-Hauser (MRKH) syndrome
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser ext...
متن کاملMayer-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...
متن کاملThe Role of MRI in the Management of Cases of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome
MayerRokitanskyKusterHauser (MRKH) syndrome is a rare entity characterized by congenital aplasia of the uterus and the upper part of 2/3rd of vagina in normal karyotype females with normal development of secondary sexual characteristics. The incidence rate is about 1 in every 4500 females. We report a case series of three different patients who presented with different clinical picture to vario...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2012
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/des206