BACKGROUND Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome that is characterized by congenital aplasia of the uterus and the upper portion (2/3) of the vagina. Previous attempts to identify causal mutations of MRKH syndrome have primarily resulted in negative outcomes. We investigated whether these reported variants are associated with MRKH syndrome (types I and II) in a relat...

BACKGROUND Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a malformation of the female genital tract (vaginal aplasia, rudimentary uterus, normal fallopian tubes and high ovaries). The incidence is one in 4000 female newborns. The aim of the present study was to record genital and associated malformations among siblings and relatives of MRKH patients in order to draw possible conclusions reg...

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into ...

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital anomaly characterized as aplasia or hypoplasia of uterus and vagina in women with normal development of secondary sex characteristics. It affects 1 in 4000-5000 female births. Women with this syndrome present with primary amenorrhoea. MRKH syndrome may be associated with renal, skeletal, cardiac and auditory anomalies. Women wi...

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...

The Mayer-Rokitansky-Küstner-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics with a normal 46, XX karyotype. We report a case of a 30-year-old woman who presented with complaints of headache. Pituitary macroadenoma and MRKH syndrome were diagnosed. To the best o...

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...

In the case reported, diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the presence of normal ovaries proved to be challenging to confirm due to unusual high positioned (ectopic) ovaries. MRKH syndrome is a rare pathological condition characterized by a spectrum of the Mullerian duct abnormalities resulting in congenital aplasia of the uterus and of the upper part (2/3) of the vag...

Mayer-Rokitansty-Küster-Hauser (MRKH) syndrome is a Müllerian anomaly that presents with varying degrees of uterovaginal aplasia and is secondarily associated with cervicothoracic, auditory and skeletal anomalies. However, MRKH syndrome patients have normal and functional ovaries. A supernumerary ovary is an extremely rare form of an ectopic ovary and there are no reported cases of MRKH syndrom...

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome refers to the congenital absence of the upper part (2/3) of the vagina with variable uterine development. In this disorder, infertility may be the most difficult aspect for the patient to accept. This review will describe a rare case of pregnancy in a woman with MRKH syndrome through assisted reproductive