Renal—skeletal—ear- and facial-anomalies in combination with the Mayer—Rokitansky—Küster (MRK) syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: A historical perspective

“…Type I MRKH syndrome is usually characterized by a blockage or a defect in the caudal part of the vagina and uterus, along with regular fallopian tubes (Morcel et al, 2007;Strubbe et al, 1994;Valappil et al, 2012), while type II MRKH syndrome has additional symptoms such as musculoskeletal defects and several renal defects such as renal unilateral agenesis, renal ectopia and horseshoed kidney (Morcel et al, 2008;NORD, 2003;Chawla et al, 1966;Willemsen, 1982). However, this condition should not be confused with isolated vaginal atresia (King et al, 1987), androgen insensitivity syndrome (AIS) (Sultan et al, 2002), WNT4 defects (Ravel et al, 2009), 5-alphareductase deficiency (Sultan et al, 2002), congenital adrenal hyperplasia (CAH) (Azziz et al, 1986), hermaphroditism (Sultan et al, 2002), Müllerian-inhibiting substance (MIS) deficiency (Jamin et al, 2002), Turner syndrome (Heller-Boersma et al, 2009) or Müllerian derivative aplasia (Shokeir, 1978).…”

“…Moreover, due to the presence of multiple genetic or chromosomal defects, clinical presentations of MRKH syndrome patients are also varied. It is thus very common to find MRKH syndrome patients with several congenital, urinary, renal, facial and skeletal disorders (Guerrier et al, 2006;Chawla et al, 1966;Willemsen, 1982;Oppelt et al, 2007).…”

Seminal Vesicle Cysts with Unilateral Renal Agenesis and Contralateral Ureteral Stenosis in a β-Thalassemic Patient: An Unknown Association by Incomplete Development of the Mesonephric Duct

“…Nevertheless, the latter syndrome, that generally affects females (with vaginal agenesis, bicornate uterus and uterus didelphys), and when it affects males it is generally associated with seminal vesicle alterations and skeletal changes in the cervical vertebrae and the head, is due to an autosomal dominant disorder, as well as to all mül-lerian malformations [9] .…”

Mullerian dysgenesis: a critical review of the literature

“…The term GRES (Genital Renal Ear) syndrome has been proposed as a more appropriate terminology when the middle ear is also affected [9,12]. Other conditions overlapping with the MRKH syndrome due to the presence of Mullerian duct dysplasia (hypoplasia or aplasia) include: the VATER (Vertebral defects, Anal atresia, TracheoEsophageal fistula, Radial dysplasia, and Renal defects) syndrome [13,14], the FAV (FacioAuriculoVertebral) syndrome [3,15], the Winter syndrome [16], hereditary renal dysplasia [17,18], and the Klippel-Feil syndrome [9, 16].…”

“…MRKH is also associated with spinal, other skeletal, renal, and auditory anomalies [1][2][3]. MRKH is a rare disorder with an estimated incidence of approximately 1 per 4500 females [4,5]; however, it is the second most common cause of primary amenorrhea after gonadal dysgenesis [6].…”