Mayer–Rokitansky–Küster–Hauser syndrome: diagnosis and management

Abstract

Key content In Mayer–Rokitansky–Küster–Hauser syndrome (müllerian agenesis) there is congenital absence of the upper two‐thirds of the vagina and the uterus is absent or rudimentary. A common presentation is primary amenorrhoea in a female with 46,XX karyotype and normal secondary sexual characteristics. There may be associated abnormalities of the kidneys, skeletal system, heart and auditory system. Magnetic resonance imaging is a useful diagnostic tool with which to assess the anatomical abnormalities. Management involves psychological support and creation of a neovagina for sexual function. Objectives To understand the anatomical abnormalities of this entity. To learn about the clinical presentation and differential diagnosis. To understand the management issues. Ethical issues If, in the future, uterine transplantation becomes safe and effective, will it be ethical for a woman to donate her uterus to her daughter? With many children awaiting adoption, should women with Mayer–Rokitansky–Küster–Hauser syndrome be encouraged to adopt rather than undergo surrogacy? Who should pay for assisted reproduction treatment, given the constraints of health service budgets? Should women with Mayer–Rokitansky–Küster–Hauser syndrome be managed in selected centres of excellence?

Sexual Life of Women With Mayer-Rokitansky-Küster-Hauser Syndrome After Laparoscopic Vecchietti Vaginoplasty

“…It results from congenital malformations of unknown etiology in the lower structures of the Müllerian ducts during organogenesis. No clear genetic cause of the syndrome has been established 2 . In some cases, familial clustering of MRKHS occurs 3, 4.…”

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).…”

“…Karyotyping/chromosome analysis, laparoscopic examination, hormonal status and ultrasonography provide the physicians an insight into the complexity of the anatomical defect in the MRKH syndrome patients (ACOG, 2006(ACOG, , 2013. Further, patients may undergo magnetic resonance imaging (MRI) of the pelvis, ultrasound examination of vagina, or ovarian biopsy for further investigations (Valappil et al, 2012;Bermejo et al, 2010;Rousset et al, 2013;Berger et al, 2014).…”

“…Although most studies classify MRKH syndrome into two groups, several studies have also categorized these defects into three groups(Oppelt et al, 2006;Valappil et al, 2012).…”

Giant leiomyoma with extensive myxoid degeneration in Mayer–Rokitansky–Küster–Hauser syndrome

“…1D,E). According to the American Fertility Society classification of Müllerian duct anomalies,1 the patient had class IB anomalies. Myomas can form in the rudimentary uterine horns of patients with MRKH syndrome because Müllerian ducts have smooth muscles at their proximal ends, which can be affected by estrogen produced by the normal ovaries.…”