ASRM müllerian anomalies classification 2021

Pfeifer, Samantha M.; Attaran, Marjan; Goldstein, Jessica R.; Lindheim, Steven R.; Petrozza, John C.; Rackow, Beth W.; Siegelman, Evan S.; Troiano, Robert N.; Winter, Thomas C.; Zuckerman, Andrea; Ramaiah, Sarah D.

doi:10.1016/j.fertnstert.2021.09.025

Cited by 148 publications

(132 citation statements)

References 15 publications

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“…There are many proposed classification systems for Mullerian anomalies and the American Fertility Society (AFS) Classification from 1988, based on the one introduced by Buttram and Gibbons in 1979, has been the most recognised and utilised. The American Society of Reproductive Medicine (ASRM) Mullerian Anomalies Classification 2021, classifies Mullerian anomalies into the following nine categories: Mullerian agenesis, cervical agenesis, unicornuate uterus, uterus didelphys, bicornuate uterus, septate uterus, longitudinal vaginal septum, transverse vaginal septum and complex anomalies 7. However, the classification of this anomaly remains debatable and its embryological pathogenesis remains to be fully elucidated 8 9…”

Section: Discussionmentioning

confidence: 99%

Robert’s uterus (asymmetric septate uterus): a rare congenital Müllerian duct anomaly

et al. 2022

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Müllerian anomalies such as Robert’s uterus, which was first described by the French gynaecologist Dr Helene Robert in 1969, are rare clinical entities and have been reported in <3% of the female population. Robert’s uterus is a rare phenomenon with a relative dearth of reported cases. Affected individuals may present with pelvic pain and dysmenorrhoea that intensifies near menses or acutely, with severe abdominal pain to the emergency department. They are also associated with adverse pregnancy outcomes, abnormal fetal presentation, preterm labour, recurrent pregnancy loss and infertility. Although ultrasound has a role in its initial assessment, MRI is the best modality to further delineate its anatomy. It is typically managed via laparotomy and total horn resection, endometrectomy of the blind cavity or abdominal metroplasty. The authors present the case of a 40-year-old woman at 19+3 weeks gestation with acute onset of left-sided abdominal pain. A transvaginal ultrasound and MRI of the pelvis confirmed a Robert’s uterus with a viable pregnancy in the upper left horn. She developed a ruptured horn with significant haemoperitoneum. An emergency laparotomy was performed and a non-viable fetus was evident. Only a few cases of pregnancy in the blind hemicavity have been reported so far. This case also highlights the importance of considering this diagnosis in young females presenting with dysmenorrhoea and normal menstrual flow. It is imperative to render a prompt diagnosis, as minimally invasive procedures may be more effective if detected before the formation of adnexal endometriomas.

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Section: Discussionmentioning

confidence: 99%

Robert’s uterus (asymmetric septate uterus): a rare congenital Müllerian duct anomaly

et al. 2022

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“…In 2021, Samanth et al published a new paper on müllerian anomalies, partially updating the uterine septum classification, and specific numerical values were given. They defined septate uterus as having an endometrial septum length of >1 cm, as measured from the bicornual line, with the leading edge of the septum having an angle of <90° ( 8 ).…”

Section: Introductionmentioning

confidence: 99%

Effects of Septum Resection for Secondary Infertility on Subsequent Reproductive Outcomes of in vitro Fertilization–Intracytoplasmic Sperm Injection

et al. 2022

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ObjectiveTo assess the effect of uterine septum resection on reproductive outcomes of in vitro fertilization (IVF) / intracytoplasmic sperm injection (ICSI) in patients with secondary infertility complicated with uterine septum.MethodsA retrospective cohort study included 269 patients. Surgical group included 169 patients with secondary infertility complicated with uterine septum, who underwent 252 embryo-transfer (ET) cycles following septum resection. Control group consisted of 100 patients with secondary infertility and uterine septum, who underwent 178 ET cycles. Cumulative pregnancy rate and cumulative live birth rate after one complete assisted reproductive technology (ART) cycle were the primary outcomes.ResultsThe results showed that the cumulative pregnancy rate was higher in the surgery group, and statistically significant difference was observed in the cumulative pregnancy rate between the two groups (71.0 vs. 59%, P = 0.044). In fresh ET cycle, no statistically significant difference between the two groups was evident (54.9 vs. 40.6%, P = 0.061). Statistical analysis of other results of the fresh ET cycle did not differ significantly between the two groups. In terms of frozen embryo transfer (FET) cycle outcomes, the clinical pregnancy rate and delivery rate in surgery group were 52.7 and 38.2%, respectively, which were significantly higher than those in the control group (38.2 and 22.5%, respectively) (P = 0.028 and P = 0.011).ConclusionThe reproductive outcomes of IVF/ICSI after septum resection in patients with secondary infertility were better than that in the untreated group, suggesting that uterine septum resection can be performed in patients with uterine septum combined with infertility to improve their reproductive outcomes.

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“…Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome (MIM: %277,000), also known as Müllerian agenesis [ 1 ], Müllerian aplasia, or Müllerian dysgenesis or congenital absence of the uterus and vagina, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. MRKH syndrome affects approximately one in 5000 live female births [ 2 ], and has been reported in approximately 16% of patients with primary amenorrhea [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Chu

et al. 2022

Hum Genomics

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Ten patients with MRKH syndrome were recruited at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Whole-exome sequencing was performed for each patient. Sanger sequencing confirmed the potential causative genetic variants in each patient. In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. The Robetta online protein structure prediction tool determined whether the variants affected protein structures. Eleven variants were identified in 90% (9/10) of the patients and were considered a molecular genetic diagnosis of MRKH syndrome. These 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1. Sequence variants of TBC1D1 were found in two unrelated patients. All variants were heterozygous. These changes included one frameshift variant, one stop-codon variant, and nine missense variants. All identified variants were absent or rare in gnomAD East Asian populations. Two of the 11 variants (18.2%) were classified as pathogenic according to the ACMG guidelines, and the remaining nine (81.8%) were classified as variants of uncertain significance. Robetta online protein structure prediction analysis suggested that missense variants in TBC1D1 (p.E357Q), HOXD3 (p.P192R), and GLI3 (p.L299V) proteins caused significant structural changes compared to those in wild-type proteins, which in turn may lead to changes in protein function. This study identified many novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. The identification of these variants provides new insights into the etiology of MRKH syndrome and a new molecular genetic reference for the development of the reproductive tract.

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ASRM müllerian anomalies classification 2021

Cited by 148 publications

References 15 publications

Robert’s uterus (asymmetric septate uterus): a rare congenital Müllerian duct anomaly

Robert’s uterus (asymmetric septate uterus): a rare congenital Müllerian duct anomaly

Effects of Septum Resection for Secondary Infertility on Subsequent Reproductive Outcomes of in vitro Fertilization–Intracytoplasmic Sperm Injection

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

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