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Clinical and Genetic Aspects of Mayer–Rokitansky–Küster– Hauser Syndrome

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Clinical and Genetic Aspects of Mayer–Rokitansky–Küster– Hauser Syndrome Übersichten medgen Susanne Ledig · Peter Wieacker https://doi.org/10.1007/s11825-018-0173-7 Institute of Human Genetics, Westfälische Wilhelms-Universität, Münster, Germany © The Author(s) 2018. This article is an open access publication. Clinical and genetic aspects of Mayer–Rokitansky–Küster– Hauser syndrome Clinical aspects The MRKH syndrome can occur as tion of the coelomic epithelium into the an isolated or type I MRKH or in asso- mesonephros, and 3) elongation of the The Mayer–Rokitansky–Küster–Hauser ciation with extragenital malformations MD. (MRKH) syndrome [MIM 277000] is as type II MRKH. Upper urinary tract First, cells of the coelomic epithelium characterised by the congenital absence malformations are observed in about (Müllerian plaque) at the upper end of of the uterus and the upper two thirds 40%, including unilateral renal agenesis, the urogenital ridge are specified to be- of the vagina in 46,XX females with ectopia of one or both kidneys, renal come MD cells. Subsequently, within mostly normal ovarian function and hypoplasia, horseshoe kidneys and hy- the mesonephros, MD precursors invagi- therefore normal breast and pubic hair dronephrosis. The most frequent skeletal nate into the underlying mesenchyme development. The exact description anomalies include malformations of the and migrate caudally along the length of the genital manifestation of MRKH spine in 30–40% such as Klippel–Feil of the WDs extending posteriorly, cross is “uterus bipartitus solidus rudimen- anomaly or scoliosis. Müllerian hy- the WDs until the caudal tip of the MDs tarius cum vagina solida” and in fact poplasia, renal agenesis, cervicothoracic reaches the urogenital sinus, which is of endometrium islands can be detected in somite dysplasia (MURCS) association endodermal origin. It was suggested that a proportion of MRKH patients, leading is the most severe form of MRKH II thecellsformingtheMDswereofWD to complications in some cases. Occa- characterised by MD aplasia, renal dys- origin, but Orvis and Behringer were able sionally, the Fallopian tubes can also be plasia and cervical somite dysplasia. to show that the elongation of the MDs is affected, but the lower part of the vagina Less frequently, MRKH can be asso- accomplished predominantly by a small is usually unaffected. This is in good ciated with hearing defects including group of cells proliferating at the tip of the agreement with the hypothesis that the conduction defects such as stapes fixa- MDs. These cells are tightly associated lowerpartofthevaginamightdevelop tion or sensorineural deafness. Rarely, with the WDs and are guided by them from the urogenital sinus and might not cardiac (atrial septum defect, conotrun- [31]. The first phase of MD development be a derivative of the Müllerian ducts cal defects) and digital anomalies such as (specification and invagination) occurs (MDs). syndactyly, polydactyly or ectrodactyly independently from the WDs, but in the The first clinical feature is generally can occur. Occasionally, associations next phase of elongation it is dependent primary amenorrhea. Clinical examina- with situs inversus, Dandy–Walker mal- on the presence of the WDs and further- tion typically reveals a normal female formation, Meckel–Gruber syndrome, more on the expression of an elongation phenotype with breast development, ax- Bardet–Biedl syndrome, Holt–Oram signal (Wnt9b, wingless-type MMTV in- illar and pubic hair and normal exter- syndrome or McKusick–Kaufman syn- tegration site family, member 9b). nal genitalia. Differential diagnosis in- drome have been reported, leading to Although the MDs and WDs are of cludes isolated vaginal atresia, androgen the assumption that—in at least some different origin, they coexist during em- insensitivity syndrome caused by muta- cases—MRKHcanbeseenasaciliopathy. bryogenesisinbothsexesuntilgeneticsex tions of the androgen receptor gene (AR) triggers the differentiation of the indiffer- in XY individuals and WNT4 defects Embryogenetic aspects entgonadintoovaryortestisrespectively. characterised by MRKH and hyperan- In females, the MDs give rise by fusion drogenism. The mammalian female and male repro- to the utero-vaginal duct, which differ- Diagnosticsinclude differentmethods ductive tracts derive from the parameso- entiates into the uterus and the upper such as transabdominal ultrasound, MRI nephric or MDs and mesonephric or part of the vagina, whereas the unfused and pelviscopy. Wolffian ducts (WDs) respectively. Ac- part of the MDs develops into the Fallop- The incidence of MRKH is about cordingtoanalysesofmicemodels, ian tubes. In males, the testicular Sertoli 1:4,500 newborn girls. MD development includes three phases: cells secrete a glycoprotein, the anti-Mül- 1) initiation, 2) cranio-caudal invagina- lerianhormone(AMH),whichcausesthe medizinische genetik Übersichten Table 1 Phenotypes of MRKH patients with imbalances in recurrently affected regions 1q21.1, 16q11.2, 17q12 and 22q11.21 Locus Copy number/ Causative Phenotype Reference size genes(s) 1q21.1 Dup/2.7 Mb RBM8A Complete uterine + vaginal agenesis, fused Cheroki et al. (2008; [11]) external labia, ovaries undetectable; inher- ited by unaffected mother 1q21.1 Del/0.378Mb RBM8A Müllerian aplasia type II, TAR syndrome Ledig et al. (2011; [20]) 16q11.2 Del/0.55Mb TBX6 MURCS, hypoplasia of the wrist, disturbed Nik-Zainal et al. (2011; [29]) psychomotor development, epilepsy, bilat- eral hearing loss 16q11.2 Del/0.6 Mb TBX6 Müllerian aplasia, short stature Nik-Zainal et al. (2011; [29]) 16q11.2 Del/0.55Mb TBX6 MURCS, long uterus horns, scoliosis, left Nik-Zainal et al. (2011; [29]) atrophic kidney 16q11.2 Del/0.55Mb TBX6 Müllerian aplasia Nik-Zainal et al. (2011; [29]) 16q11.2 Del/0.53Mb TBX6 Müllerian aplasia Sandbacka et al. (2013; [38]) 16q11.2 Del/0.53Mb TBX6 Müllerian aplasia Sandbacka et al. (2013; [38]) 16q11.2 Del/0.53Mb TBX6 Müllerian aplasia Sandbacka et al. (2013; [38]) 16q11.2 Del/0.53Mb TBX6 Müllerian aplasia Sandbacka et al. (2013; [38]) 16q11.2 Del/0.53Mb TBX6 Müllerian aplasia Sandbacka et al. (2013; [38]) 17q12 Del/1.2 Mb LHX1, HNF1B Müllerian aplasia, mild dysmorphic fea- Cheroki et al. (2008; [11]) tures, onychodystrophy, mental impairment, seizures 17q12 Del/1.5 Mb LHX1, HNF1B Müllerian aplasia, mild dysmorphic features Bernardini et al. (2009; [3]) 17q12 Del/1.5 Mb LHX1, HNF1B Müllerian malformations with right unicor- Bernardini et al. (2009; [3]) nuate uterus, no cavitating rudimentary left horn, right haematosalpinx and surgically corrected agenesis of the upper and middle thirds of the vagina, bilaterally multicystic kidneys 17q12 Del/1.8 Mb LHX1, HNF1B Müllerian aplasia Ledig et al. (2011; [20]) 17q12 Del/1.4 Mb LHX1, HNF1B Müllerian aplasia, unilateral kidney agenesis Ledig et al. (2011; [20]) 17q12 Del/1.4 Mb LHX1, HNF1B Müllerian aplasia Nik-Zainal et al. (2011; [29]) 17q12 Del/1.4 Mb LHX1, HNF1B MURCS, left kidney agenesis with absent Nik-Zainal et al. (2011; [29]) ureter, pelvic misalignment, type II diabetes 17q12 Del/1.4 Mb LHX1, HNF1B MURCS, absent right kidney, left pelvic kid- Nik-Zainal et al. (2011; [29]) ney, right convex kyphoscoliosis 17q12 Del/1.4 Mb LHX1, HNF1B MURCS, mild scoliosis Nik-Zainal et al. (2011; [29]) 17q12 Del/1.7 Mb LHX1, HNF1B Müllerian aplasia Sandbacka et al. (2013; [38]) 22q11.21 Del/2.6 Mb ? Müllerian malformation with vaginal age- Cheroki et al. (2006; [10]); Cheroki et al. nesis and rudimentary uterus, right kidney (2008; [11]) agenesis, scoliosis, mild to moderate learn- ing disabilities, mild dysmorphic features 22q11.21 Del/0.39Mb ? Müllerian aplasia Ledig et al. (2011; [20]) 22q11.2 Del/0.39Mb ? MURCS, 1-cm blind ending vagina, rudimen- Nik-Zainal et al. (2011; [29]) tary uterus, normal right ovary, streak left ovary, fused pelvic kidney, fused vertebrae, scoliosis, hypoplastic first ribs, flattened sacrum, dysplastic auricles, right-sided cleft lip, cleft palate, atrial septal defect, per- sistent left superior vena cava, unroofed coronary sinus, patent ductus arteriosus, multiple nevi, left hypoplastic thumb, hy- poplastic middle phalanx, absent distal phalanx second digit, absent middle and distal phalanges, fifth digit 22q11.21–q11.23 Dup/3.5 Mb ? Müllerian aplasia Ledig et al. (2011; [20]) TAR thrombocytopaenia/absent radius, MRKH Mayer–Rokitansky–Küster–Hauser syndrome, MURCS Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia medizinische genetik Abstract · Zusammenfassung regression of the MD. Targeted mutage- medgen https://doi.org/10.1007/s11825-018-0173-7 nesis in the mouse has identified several © The Author(s) 2018. This article is an open access publication. genes that are essential for proper devel- opment and differentiation of the female S. Ledig · P.Wieacker reproductive tract. Clinical and genetic aspects of Mayer–Rokitansky–Küster–Hauser The mice genes required for female syndrome reproductive tract development include paired-box-gene 2 (Pax2), LIM home- Abstract obox 1 (Lhx1), wingless-type MMTV in- The Mayer–Rokitansky–Küster–Hauser analysis revealed recurrent aberrations in different chromosomal regions such as TAR tegration site family, member 4 (Wnt4), (MRKH) syndrome [MIM 277000] is characte- rised by the absence of a uterus and vagina susceptibility locus in 1q21.1, chromosomal wingless-type MMTV integration site in otherwise phenotypically normal women regions 16p11.2, and 17q12 and 22q11.21 family, member 7a (Wnt7a), empty spir- with karyotype 46,XX. Clinically, the MRKH can microduplication and -deletion regions in acles homeobox 2 (Emx2), hepatocyte be subdivided
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