Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Diagnostic and therapeutic approach of a rare disease
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منابع مشابه
Mayer-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-Küster-Hauser (MRKH) syndrome. Diagnostic and therapeutic approach of a rare disease
Introduction: The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by the absence of the vagina and uterus and primary amenorrhea. Objective: The diagnostic evaluation and the therapeutic possibilities of a rare syndrome. Materials and methods: We present a case of a Rokitansky syndrome. Results: The patient presented normal development of secondary sexual characters. Analysis also show...
متن کاملGenetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
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 ...
متن کاملHereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
BACKGROUND Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system. CASE REPORT A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and M...
متن کاملMalformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
BACKGROUND The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex - associated Malformation classification system (VCUAM). METHODS 290 women with MRKH syndrome were clinically evaluated with using clinical examinations...
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ژورنال
عنوان ژورنال: Colombia Medica
سال: 2011
ISSN: 1657-9534
DOI: 10.25100/cm.v42i3.884