Abnormalities of Urinary Tract and Skeleton Associated with Congenital Absence of Vagina

Abstract

Congenital absence of the vagina was first mentioned by Realdus Columbus in 1572 (quoted by Bryan, Nigro, and Counseller, 1949). The incidence has been variously reported as 1 in 4,000 female patients (Bryan et al., 1949), 1 in 5,000 births (Engstad, 1917), and 6 in 125,000 female hospital admissions (Owens, 1942). The largest series was reported by Phelan, Counseller, and Greene (1953), who saw 129 patients with absence of the Abnormalities Found on I.V.P. and X-ray Film of Skeleton Clinical Signs

Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome

“…i), and subtype 2, with fusion of vertebrae at only one or two cervical levels, was found in 6 patients, while subtype 3, the combination o f subtype 1 with massive lumbar fusion, was seen in 3 patients (Fig. 2) [1, 3,5,19,23]. O f these 14 K F patients, 10 proved to have congenital renal abnormalities (renal agenesis in 7 cases and pelvic kidney in 3 cases) at intravenous urography, confirming the M U R C S association.…”

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).…”

Mullerian dysgenesis: a critical review of the literature

“…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].…”