Das Rokitansky-Küster-Syndrom

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications

“…One of the earliest reports describing genetic analysis in the diagnosis of MRKH syndrome is from Georges Andre Hauser in 1961. Hauser and colleagues described that sex-chromatin analysis could aid the differentiation of MRKH syndrome from Turner syndrome and defined MRKH syndrome (at the time termed ‘Mayer-Rokitansky-Küster syndrome’) to include normal female chromosomes ( 45 , 46 ). Together with earlier anatomical descriptions of Mayer, Rokitansky, and Küster, his work led to the complete definition and its final name ( 4 ).…”

“…Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by agenesis or aplasia of the uterus and upper part of the vagina. The patients are characterized by having a normal female karyotype (46,XX), normal external genitalia, and normal pubertal development of secondary sex characteristics (thelarche and pubarche) (4). MRKH syndrome is typically diagnosed during late adolescence when patients present with primary amenorrhea (5).…”

Congenital Malformations of the Vagina and Their Management

“…Maldevelopment of the vagina was first described by Avicenna (AD 980-1026), and then by Realdus Columbus (1572) 1 and Dupuytren (1817). 2 Subsequently, the association of congenital absence of the vagina and an absent or abnormal uterus, with or without other congenital abnormalities, has been attributed to the published works of four men: Mayer, 3 who described the absence of a vagina in a stillborn infant with multiple congenital abnormalities; Rokitansky, 4 who included 2 cases in his report of 26 cases of developmental problems of the uterus; Kuster, 5 who reported 41 cases of müllerian maldevelop-ment and noticed the association of normal ovaries and renal and skeletal abnormalities; and Hauser, 6 who, with his associates, summarized the syndrome and outlined its frequency and the spectrum of disorders. This century has seen an extensive amount of literature on vaginal abnormalities, and these reports deal with all the variations that can occur, including the presence of double vagina, patent and obstructed, vertical fusion defects, the presence of a functioning or non-functioning uterus, and the presence or absence of the cervix.…”