Phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser syndrome in a Chinese population: an analysis of 594 patients

Pan, Hongxin; Luo, Guangnan

doi:10.1016/j.fertnstert.2016.06.007

Cited by 26 publications

(37 citation statements)

References 18 publications

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“…In one of the largest cohort studies of 594 patients with MRKHS, 571 (96.1%) were classified with complete atresia of the vagina (V5b), bilateral aplasia of the cervix (C2b), bilateral aplastic uterus (U4b) and normal adnexa (A0). The most frequent VCUAM classification was V5bC2bU4bA0M0 (M0: no associated malformations), which was diagnosed in 551 (92.8%) of the 594 patients . All the patients with MRKHS showed both complete atresia of the vagina and aplasia of the cervix, as also reported in another large cohort study of 284 patients with MRKHS .…”

Section: Discussionsupporting

confidence: 74%

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female

Kisu

Ono

Iijma

et al. 2019

J of Obstet and Gynaecol

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Coexistence of Mayer‐Rokitansky‐Küster‐Hauser syndrome and gonadal dysgenesis is extremely rare, and a case of Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina has not been reported. Here, we report such a case associated with gonadal dysgenesis. A 17‐year‐old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. Genital examination revealed a uterine cervix and normal vagina without a uterine body and ovaries. An endocrine study showed hypergonadotrophic hypogonadism. The karyotype was 46,XX. Laparoscopy revealed a rudimentary uterus, normal fallopian tubes and bilateral streak ovaries. There were no other associated malformations. Hormonal substitution therapy was started for development of secondary sexual characteristics and prevention of osteoporosis, but the problem of infertility is unresolved.

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Section: Discussionsupporting

confidence: 74%

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female

Kisu

Ono

Iijma

et al. 2019

J of Obstet and Gynaecol

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“…Interestingly, Deng et al reported a lower prevalence of renal malformations of only 13% in their Chinese cohort suggesting the possibility of inter-ethnic phenotypical variations in MRKH syndrome from European patient cohorts [15]. Pan et al reported an even lower prevalence of 5% in their Chinese cohort but that study did not include information on the extent of renal examinations performed, which could imply an underestimation of the prevalence [106]. Anomalies of the skeleton are the second most frequent extragenital manifestations in MRKH syndrome affecting around~10-40% depending on the extent of examinations performed and anomalies included (Table 3).…”

Section: Clinical Presentation Diagnosis and Associated Malformationsmentioning

confidence: 96%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Herlin

Petersen

Brännström³

2020

Orphanet J Rare Dis

171

160

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Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). Main body: The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. Conclusion: Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

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“…Also in the cohort of 168 MRKH patients described by Herlin et al, kidney malformations were the most prevalent associated malformations (34.2%). Differently, another recent paper described a cohort of 594 Chinese patients and identified associated malformations in only 7.2% of cases, but renal anomalies were confirmed as the most frequently observed . The different ethnicities of the cohorts may account for the discrepancies among these studies.…”

Section: Mrkh Phenotypesmentioning

confidence: 92%

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

et al. 2016

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500–5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico‐thoracic defects. MRKH syndrome is mainly sporadic; however, familial cases have been described indicating that, at least in a subset of patients, MRKH may be an inherited disorder. The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity. The etiology of MRKH syndrome is still largely unknown, probably because of its intrinsic heterogeneity. Several candidate causative genes have been investigated, but to date only WNT4 has been associated with MRKH with hyperandrogenism. This review summarizes and discusses the clinical features and details progress to date in understanding the genetics of MRKH syndrome.

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Phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser syndrome in a Chinese population: an analysis of 594 patients

Cited by 26 publications

References 18 publications

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

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