Update on Mayer—Rokitansky—Küster—Hauser syndrome

Chen, Na; Song, Shuang; Bao, Xinmiao; Zhu, Lan

doi:10.1007/s11684-022-0969-3

Cited by 7 publications

(7 citation statements)

References 154 publications

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“…However, further clinical multidisciplinary evaluation is required to confirm a precise diagnosis. Due to the limitations of our current knowledge of the genetic basis of this condition, we choose not to speculate on the significance of the variants discovered (Herlin, Petersen, and Brännström 2020;Chen et al 2022).…”

Section: Discussionmentioning

confidence: 99%

Maximizing the Benefits of WES Data for Clinical Diagnosis of individuals with Differences/Variations of Sex Development

Decken,

Gutiérrez,

Sproll

et al. 2024

Preprint

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Variations of Sex Development (VSD) are conditions where genetic and anatomical features do not align with typical male or female characteristics, often due to sex chromosome differences, hormonal imbalances, or other genetic factors. Diagnosing the genetic etiology of VSD can be challenging due to the complex and variable nature of the condition. We developed a whole exome sequencing (WES) pipeline, demonstrating WES as an all-in-one genetic testing tool. It offers reliable karyotyping and SRY gene detection, potentially replacing costly and time-consuming karyotyping and FISH assays. Our pipeline tests all known and candidate VSD genes simultaneously, avoiding the need for single-gene tests. A customized filtering system, including a blacklist of variants from healthy controls, enhances variant detection. Among 171 subjects with a VSD diagnosis of unresolved etiology, our pipeline provided probable genetic diagnoses for 50 patients, identifying two chromosomal aberrations, one SRY translocation missed by initial FISH-assay, and 47 point mutations in known VSD genes, 18 of which are novel. Overall, WES consolidates multiple genetic tests into one, making it a more accessible and cost-effective diagnostic tool for clinics, usable by non-experts.

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Section: Discussionmentioning

confidence: 99%

Maximizing the Benefits of WES Data for Clinical Diagnosis of individuals with Differences/Variations of Sex Development

Decken,

Gutiérrez,

Sproll

et al. 2024

Preprint

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“…Complete vaginal atresia is usually associated with cervical dysplasia or cervical atresia ( 1 , 3 , 4 ). Currently, the main surgical method for patients with complete vaginal atresia is vaginoplasty with or without sparing of the uterus ( 5 , 6 ). However, hysterectomy places a massive physical and mental burden on young females and their families ( 7 , 8 ).…”

Section: Introductionmentioning

confidence: 99%

Efficacy and safety of laparoscopic vaginoplasty with peritoneal flaps and cervicoplasty in patients with congenital cervical and complete vaginal atresia: a pilot study

Liu,

Zhang,

Wang

et al. 2024

Quant Imaging Med Surg

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Background Hysterectomy places a considerable physical and mental burden on young female patients with congenital cervical and complete vaginal atresia. Thus, it is necessary to develop a method to detach the obstruction and simultaneously preserve the vagina and uterus in these patients. This study sought to evaluate the efficacy and safety of laparoscopic vaginoplasty using peritoneal flaps and cervicoplasty in patients with congenital cervical and complete vaginal atresia. Methods Between April 2013 and June 2022, nine patients with congenital cervical and complete vaginal atresia at Henan Provincial People’s Hospital were enrolled in this prospective study. All patients were treated with laparoscopic vaginoplasty using peritoneal flaps and cervicoplasty. Baseline clinical data (e.g., age and uterus size) were collected. The surgical success rate and adverse events were assessed. Results The nine enrolled patients had a median age of 15.0 [interquartile range (IQR), 14.0–18.0] years, and five of these patients had pelvic adhesions. The surgeries were successful in all (9/9) patients, with the vagina, uterus, and a normal menstrual cycle being preserved. After a median follow-up duration of 48 months, the neovaginas had a median length of 7.5 cm. Postoperative complications occurred in three of patients and were cured with the appropriate treatment. The five married patients reported being satisfied with their sex life. Conclusions The study preliminarily demonstrated the efficacy of laparoscopic vaginoplasty using peritoneal flaps and cervicoplasty in patients with congenital cervical and complete vaginal atresia. However, due to the small sample size, lack of a control group, and relatively high incidence of adverse events, further studies are still needed to verify these results. Regardless, our findings establish an approach for preserving both the vagina and uterus for patients with congenital cervical and complete vaginal atresia.

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“…Recurrent chromosome aberrations at 16p11.2, 17q12, and 22q11 regions have been noticed in MRKH syndrome despite low incidence rates. Additionally, a recent review summarized the reports of MRKH cases with CNVs and it revealed type II MRKH accounted for 78% of those cases (21 in 26 cases) (Chen et al, 2022) (Rosenfeld et al, 2010;Wu et al, 2015). In a Chinese discovery cohort involving 442 MRKH patients, four 16p11.2 deletions were identified in type II MRKH cases, whereas 16p11.2 CNVs was not observed in patients diagnosed with type I MRKH .…”

Section: Introductionmentioning

confidence: 99%

“…The prevalence of uterine anomalies is around 3.5%–8.0% in women with infertility, with a trend toward higher incidence in the past decades (Chan et al, 2011; Nahum, 1998; Raga et al, 1997; Saravelos et al, 2008). Among all the uterine anomalies, Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome (OMIM #277000) is a severe and rare disorder characterized by uterovaginal aplasia with a normal 46, XX karyotype (Chen et al, 2022). Despite aplasia of the uterus and upper vagina, the patients have normal tubes, ovaries, and secondary sexual characteristics.…”

Section: Introductionmentioning

confidence: 99%

“…Recurrent chromosome aberrations at 16p11.2, 17q12, and 22q11 regions have been noticed in MRKH syndrome despite low incidence rates. Additionally, a recent review summarized the reports of MRKH cases with CNVs and it revealed type II MRKH accounted for 78% of those cases (21 in 26 cases) (Chen et al, 2022). In 2011, Serena et al first observed probands with 16p11.2 deletions in total of 112 patients, suggesting that CNVs at 16p11.2 are probably related to the etiology of MRKH syndrome (Nik‐Zainal et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population

Su,

Liu,

et al. 2023

Molec Gen & Gen Med

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BackgroundsMayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single‐gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population.MethodsWe recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant.ResultsOur study identified recurrent 16p11.2 microdeletions of approximately 600 kb in two out of the 143 type I MRKH syndrome patients using high‐density array‐based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in TBX6 gene in our samples.ConclusionsThe results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders.

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Update on Mayer—Rokitansky—Küster—Hauser syndrome

Cited by 7 publications

References 154 publications

Maximizing the Benefits of WES Data for Clinical Diagnosis of individuals with Differences/Variations of Sex Development

Maximizing the Benefits of WES Data for Clinical Diagnosis of individuals with Differences/Variations of Sex Development

Efficacy and safety of laparoscopic vaginoplasty with peritoneal flaps and cervicoplasty in patients with congenital cervical and complete vaginal atresia: a pilot study

Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population

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