Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

<p>Abstract</p> <p>Background</p> <p>Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I) or more frequently associated with other malformations (type II or Müllerian Renal Cervico-thoracic Somite (MURCS) association), some of which belong to the malformation spectrum of DiGeorge phenotype (DGS). Its etiology remains poorly understood. Thus the phenotypic manifestations of MRKH and DGS overlap suggesting a possible genetic link. This would potentially have clinical consequences.</p> <p>Methods</p> <p>We searched DiGeorge critical chromosomal regions for chromosomal anomalies in a cohort of 57 subjects with uterovaginal aplasia (55 women and 2 aborted fetuses). For this candidate locus approach, we used a multiplex ligation-dependent probe amplification (MLPA) assay based on a kit designed for investigation of the chromosomal regions known to be involved in DGS.</p> <p>The deletions detected were validated by Duplex PCR/liquid chromatography (DP/LC) and/or array-CGH analysis.</p> <p>Results</p> <p>We found deletions in four probands within the four chromosomal loci 4q34-qter, 8p23.1, 10p14 and 22q11.2 implicated in almost all cases of DGS syndrome.</p> <p>Conclusion</p> <p>Uterovaginal aplasia appears to be an additional feature of the broad spectrum of the DGS phenotype. The DiGeorge critical chromosomal regions may be candidate loci for a subset of MRKH syndrome (MURCS association) individuals. However, the genes mapping at the sites of these deletions involved in uterovaginal anomalies remain to be determined. These findings have consequences for clinical investigations, the care of patients and their relatives, and genetic counseling.</p

Résultats anatomiques et fonctionnels de la colpoplastie sigmoïde dans le traitement chirurgical du syndrome de Mayer Rokitansky Kuster Hauser

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Sexual and functional results after creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome: a comparison of nonsurgical and surgical procedures

International audienceOBJECTIVE: To compare nonsurgical and surgical procedures for creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in terms of sexual satisfaction. STUDY DESIGN: We report a cross-sectional study of 91 women with MRKH syndrome undergoing a neovagina creation procedure. They were members of the French National Association of Women with MRKH syndrome. We analyzed all answers to a questionnaire mailed to each woman. The questionnaire solicited short answers concerning the diagnosis and the neovagina procedure, and included the standardized FSFI (Female Sexual Function Index) questionnaire. All analyses were performed using the chi-squared test and Student's t-test. A p-value of \textless0.05 was considered statistically significant. RESULTS: Forty women answered the questionnaire. Twenty had been treated by Frank's method (non-surgical group) and 20 had undergone a surgical procedure, sigmoid vaginoplasty (12 cases) or Davidov's technique (8 cases) (surgical group). The mean time after neovagina creation was 7 years (range 1-44 years). The population characteristics did not differ significantly between the nonsurgical and surgical groups. The total FSFI score indicated good and similar functional results in the two groups (25.3±7.5 versus 25.3±8.0). CONCLUSIONS: Functional sexual outcomes after nonsurgical and surgical methods were similar. Therefore, the Frank's method should be proposed as first line therapy because it is less invasive than surgical procedures. In the case of failure of this technique or of refusal by the patient, surgical reconstruction may then be offered

Technical considerations and mid-term follow-up after vaginal hysterocolpectomy with colpocleisis for pelvic organ prolapse

International audienceObjectivesAt the time of controversies on surgical treatment of pelvic organ prolapse, our aim was to describe an effective technique of hysterocolpectomy with colpocleisis for elderly patients not wishing to maintain vaginal sexual activity and present mid-term results including pelvic floor symptoms and quality of life, patient satisfaction and surgical complications using validated scores.Study designWe conducted a retrospective study of all patients having undergone this surgery between June 2006 and June 2016. Women were examined using POP-Q classification and completed validated questionnaires concerning symptoms and quality of life before and after the surgery. Patient satisfaction was assessed using the PGI-I. Complications were described according to the Clavien-Dindo classification.ResultsDuring the 10-year period, 37 women underwent the surgery with a mean age at surgery of 81.2 years (range: 61–93 years). One per-operative complication occurred (a rectal wound that was sutured) and five Clavien-Dindo grade 3b postoperative complications. Three repeat operations were necessary within 15 days; one suburethral sling had to be lowered because of urinary retention; one tension-free vaginal tape had to be unilaterally sectioned for acute urinary retention; and one woman presented a pararectal abscess requiring surgical drainage. The mean duration of hospitalization was 5.5 (+/-4.2) days. The mean follow-up time was 44.1 (±30.1) months. All symptoms and quality of life scores decreased significantly after the surgery and patient satisfaction was good (PGI-I score = 1.55 +/-0.8).ConclusionsHysterocolpectomy with colpocleisis appears to be an effective treatment with a high level of patient satisfaction among the elderly

Associated Lichen Sclerosis Increases the Risk of Lymph Node Metastases of Vulvar Cancer

International audienceThe most important prognostic factor in vulvar cancer is inguinal lymph node status at the time of diagnosis, even in locally advanced vulvar tumors. The aim of our study was to identify the risk factors of lymph node involvement in these women, especially the impact of lichen sclerosis (LS). We conducted a retrospective population-based cross-sectional study in two French referral gynecologic oncology institutions. We included all women diagnosed with a primary invasive vulvar cancer. Epithelial alteration adjacent to the invasive carcinoma was found in 96.8% (n = 395). The most frequently associated was LS in 27.7% (n = 113). In univariate analysis, LS (p = 0.009); usual type VIN (p = 0.04); tumor size >2 cm and/or local extension to vagina, urethra or anus (p 2 cm: p = 0.001). LS surrounding vulvar cancer is an independent factor of lymph node involvement, with local extension and LVSI