نتایج جستجو برای: mrkh syndrome
تعداد نتایج: 621922 فیلتر نتایج به سال:
1. Morcel K, Camborieux L. Programmede recherches sur les aplasiesmüllériennes (PRAM)andGuerrierD.Mayer–Rokitansky–Küster–Hauser syndrome.Orphanet J Rare Dis. 2007;2:13. 2. Strübbe EH, Cremers CW, Wilemsen WN, Rolland R, Thijn CJ. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994;3:192–9. 3. Vasquez JC, De la Ro...
BACKGROUND The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual with normal secondary characteristics. It has long been considered a sporadic anomaly, but familial clustering occurs. Several candidate genes have...
Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital a...
OBJECTIVES To evaluate the long-term results after Vecchietti's operation. STUDY DESIGN Twenty Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome patients underwent creation of a neovagina using Vecchietti's operation by laparotomy (17 cases) and laparoscopy (3 cases). RESULTS The mean age of the patients was 21 years (16-34). After 66 months (24-156) of follow-up, the mean length x diameter of...
Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital a...
BACKGROUND Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by M...
The Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is a rare anomaly characterized by congenital aplasia of the uterus and vagina in women showing normal development of secondary sexual characters and normal 44 XX karyotype. We report our experience in the management of two patients with congenital absence of the vagina due to the MRKH syndrome. The first case was a 24-year-old student, who pre...
Objective. To report a case of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) in which there were two nonfunctional rudimentary uteruses with the presence of ovarian endometrioma, corroborating that there are valid alternative theories to the existence of endometriosis, rather than Sampson's theory alone, such as the coelomic metaplasia theory. Design. A case report. Setting. A tertiary referra...
Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented prima...
The Mayer Rokitansky Kuster Hauser (MRKH) syndrome is a congenital abnormality of the genital tract which occurs in approximately 1 in 5000 women. It is characterized by a maldevelopment of the Mullerian ducts at their lower portion, which results in congenital absence of the vagina and either the absence of uterine tissue or the presence of two uterine anlage, which are nonfunctioning myometri...
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