Search

Background Hormonal exposure leads to an increased risk of venous thromboembolism (VTE) but the risk of VTE associated with assisted reproductive technology (ART) is not clearly determined. Methods We searched in PubMed, EMBASE, Web of Science, and the Cochrane Library databases and identified all relevant articles published up to February 1, 2021. The primary objective was to determine the frequency of VTE associated with ART. Secondary objectives were to determine (1) the risk of VTE associated with ART as compared to pregnancy without ART; (2) the risk of VTE associated with ovarian hyperstimulation syndrome (OHSS); and (3) to determine potential risk factors of VTE related to ART. Results Fourteen studies were included. The overall frequency of VTE associated with ART was 0.23% (95% confidence interval [CI]: 0.07–0.46). Women undergoing ART had a two- to threefold increased risk of VTE as compared to spontaneous pregnancy (relative risk [RR]: 2.66; 95% CI: 1.60–4.43). The overall frequency of VTE specifically related to OHSS was Conclusion Further large prospective studies on risk factors of VTE in women undergoing ART are needed in order to optimize thromboprophylaxis in this context.

Early pregnancy loss (EPL) is a spontaneous miscarriage of a clinical pregnancy during the first trimester. Several factors of EPL have been studied but results were discordant. We performed a retrospective study in our ART center, comparing baseline data and IVF/ICSI outcomes between cycles with EPL, ongoing pregnancy and without pregnancy. Ectopic pregnancies and biochemical pregnancies (without visualization of a gestational sac on ultrasound) were excluded. The aim of this study is to compare these different cycles, and analyze the risk factors for EPL. We included 2555 IVF/ICSI cycles leading to 2193 oocyte pick-ups and 1806 embryo transfers. Several characteristics (women’s age, infertility diagnosis and duration, estradiol level on the day of hCG-trigger, endometrial thickness, day of embryo transfer) appeared to be risk factors of EPL in univariate analysis. Only women’s age has a significant (p

Many studies failed to show a predictive impact of AMH levels on the chances of pregnancy; however, acceptable pregnancy rates for young women with low AMH levels were observed in IVF + / - ICSI. The objectives of this retrospective study were to evaluate the clinical pregnancy and live birth rates in the first IVF + / - ICSI cycle in women under 38 years old with AMH level 1.2 ng/ml and to determine the arguments for care. We classified the women into three groups: group A: AMH 0.4 ng/ml (n: 86); group B: AMH: 0.4 to 0.8 ng/ml (n: 90); and group C: AMH 0.8 to 1.2 ng/ml (n: 92). We recorded data on the patients' characteristics, stimulation cycles, embryo cultures, and ongoing pregnancies. No difference was observed between the three groups for the number of embryos transferred, the clinical pregnancy, and the live birth rates (LBR) per embryo transfer (LBR/transfer: 24.1% in group A, 25.9% in group B, and 28.1% in group C). The young age of the women reassures about the oocyte quality, but a low level of AMH may raise concerns about a lower quantitative oocyte yield, leading to accelerated management of the couple in IVF + / - ICSI.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.

Resume Objectifs En appui sur les donnees issues d’une vaste recherche medico-psychopathologique proposee a des jeunes filles atteintes d’une agenesie utero-vaginale — syndrome de Rokitansky ou Mayer-Rokitansky-Kuster-Hauser (MRKH) — notre travail propose l’analyse psychodynamique de la valeur et de la fonction pour l’economie psychosomatique d’une reaction frequente a l’annonce diagnostique : le developpement d’un desordre alimentaire de type prise de poids chez 4 patientes sur 40. La mise en perspective de l’analyse de deux cas de patientes permet d’affiner la comprehension du sens de cette emergence alimentaire dont nous faisons l’hypothese qu’elle constitue a la fois une modalite defensive signalant les impasses du processus de construction du feminin mais aussi possiblement un levier de transformation psychique de ses incidences traumatiques. Methode Quarante jeunes femmes MRKH âgees de 19 a 34 ans (avec un âge moyen de 25 ans ½) ont ete rencontrees. La recherche leur a ete proposee de 2 a 17 ans apres leur annonce diagnostique et le travail clinique a consiste en une analyse retrospective de leur experience traumatique adolescente. Le recit des patientes a ete recueilli a l’aide d’un entretien clinique a visee de recherche non directif. Deux epreuves projectives (Rorschach et Thematic Apperception Test – TAT) leur ont egalement ete proposees pour apprehender plus finement les modalites de leur fonctionnement psychique. Les donnees des entretiens font l’objet d’une analyse clinique thematique ; les protocoles du Rorschach et du TAT sont analyses selon la methode d’interpretation de l’Ecole Francaise referee a la theorie psychanalytique du fonctionnement psychique. Le materiel issu des rencontres avec deux patientes diagnostiquees a l’âge de 17 ans et ayant presente dans la suite de cette annonce une prise de poids de 10 kg est ici compare de maniere approfondie. Resultats Le reperage de contrastes en termes de problematiques et de niveaux d’elaboration entre l’entretien et les protocoles projectifs est saisissant pour chaque patiente. A travers l’analyse de l’entretien, le symptome alimentaire de la patiente 1 parait survenir dans un contexte psychique ou l’interiorite feminine semble irrepresentable. Les protocoles projectifs revelent a l’inverse l’acces a un travail du feminin conflictuel et symbolise. De meme, le discours de la patiente 2 sur son symptome est a premiere vue bien plus elabore que celui de la patiente 1 puisque celle-ci etablit un lien subjectif entre le renoncement au projet de maternite implique par l’annonce du MRKH et la dimension compensatoire procuree par la prise de poids. Pourtant, le contraste offert par les tests projectifs dont les productions traduisent au contraire les fragilites identitaires et une insuffisante symbolisation du sexuel temoigne de la valeur defensive de l’exces de symbolisation de son discours manifeste dans l’entretien. Discussion Ces contrastes amenent a envisager le remplissage alimentaire comme une tentative de traitement d’une sexualite feminine deja conflictuelle voire en impasse avant la decouverte du MRKH. Ses accents traumatiques sont reactualises et potentialises a la faveur de l’annonce diagnostique. Les differents niveaux de problematiques reperes peuvent cohabiter chez une meme femme, qu’il s’agisse d’un feminin ni construit ni integre, d’un impossible investissement du corps interne ou d’un contre-investissement de l’impossible maternite. Dans ce contexte, l’etiopathogenie de la prise de poids qui succede a l’annonce du diagnostic est pour chaque jeune fille singuliere mais toujours en lien avec un feminin et/ou un maternel atteint. Conclusion En conclusion, si la prise de poids qui suit le diagnostic traduit une entrave voire une impasse (eventuellement ponctuelle) du traitement psychique de ses effets, cette annonce medicale a l’adolescence peut constituer une nouvelle chance pour ces jeunes filles, celle d’un apres-coup a la valeur potentiellement mutative.

International audience; Congenital uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of uterine and kidney malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or uterine malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance.

Sperm and embryos cryopreservation is a commonly applied technique for several years. Recently authorized in France, vitrification tends to replace gradually the conventional technique of slow freezing, so upsetting the practices in the management of patients. It allows from now on the cryopreservation of oocytes and opens new perspectives in egg donation either still in fertility preservation. This review thus attempted to examine the contribution of vitrification in the freezing of oocytes and human embryos at various stages of development. If obviously vitrification appears as the current method of choice for the cryopreservation of oocytes as well as blastocysts, the results are less cut as regards embryos to early stages. No increase in adverse obstetric and perinatal outcomes in children conceived from vitrified oocytes or embryos is noted in the literature

International audience; OBJECTIVE: Vulvar intraepithelial neoplasia (VIN) and vulvar Paget disease are managed with either vulvectomy, destructive treatments (laser, antimitotic drugs) or immunostimulants. All these options are associated with functional complications. The purpose of this study was to evaluate the surgical technique consisting of skinning vulvectomy with split-thickness skin graft, and its effect on overall quality of life and sexual function. METHODS: A retrospective study was conducted on thirteen patients who underwent skinning vulvectomy with split-thickness skin graft between 1999 and 2009. Overall quality of life and sexual function were assessed with the Medical Outcome Study Short Form 36 (MOS SF-36) and Female Sexual Function Index (FSFI), respectively. RESULTS: The median age of patients was 54 (range: 33-77) years. Three patients had Paget disease and 10 patients had VIN lesions. The excision margins were clear in 46% of cases. The incidence of occult cancer was 31%. The mean follow-up period was 77 (±35) months. Four patients experienced a relapse of their intraepithelial disease. The mean disease-free survival was 58 (±44) months. There was no significant difference in MOS SF-36 scores between the study population and the general population. The patients assessed with the FSFI regained normal sexual function after the surgical procedure. CONCLUSION: Skinning vulvectomy with split-thickness skin graft is a feasible technique yielding good results in terms of quality of life and sexual function. It enables occult cancer to be diagnosed in patients with VIN or Paget disease.

Background: To evaluate the impact of the association of endometrioma with or withoutdeep infiltrating endometriosis (DIE) after a first intra cytoplasmic sperm injection- invitro fertilization (ICSI-IVF) cycle on pregnancy rate.Materials and Methods: In this retrospective study, women with endometrioma whounderwent a first ICSI-IVF cycle from January 2007 to June 2010 were reviewed forpregnancy rate. The main outcome measure was the clinical pregnancy rate. A multiplelogistic regression (MLR) was performed; including all variables that were correlatedto the conception rate. Only independent factors of pregnancy rate were included in aRecursive Partitioning (RP) model.Results: The study population consisted of 104 patients (37 without DIE and 67 patientswith associated DIE). Using multivariable analysis, a lower pregnancy rate was associatedwith the presence of DIE (OR=0.24 (95% CI: 0.085-0.7); p=0.009) and the use ofICSI (OR=0.23 (95% CI: 0.07-0.8); p=0.02). A higher pregnancy rate was associatedwith an anti-mullerian hormone (AMH) serum level over 1 ng/ml (OR=4.3 (95% CI:1.1-19); p=0.049). A RP was built to predict pregnancy rate with good calibration [ROCAUC (95% CI) of 0.70 (0.65-0.75)].Conclusion: Our data support that DIE associated with endometrioma in infertilepatients has a negative impact on pregnancy rate after first ICSI-IVF cycle. Furthermore,our predictive model gives couples better information about the likelihood ofconceiving.

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 40 - N° 7 - p. 626-632

Uterine arteriovenous malformations (AVM) may be responsible for vaginal bleeding potentially life-threatening. They are most often acquired following uterine trauma (curettage, cesarean section, artificial delivery/uterus examination) in association with pregnancy or gestational trophoblastic disease. We report three cases of patients having uterine AVM after curettage. The diagnostic management is important to avoid differential diagnoses (intra-uterine retention, hemangioma, gestational trophoblastic disease). It is based on serum hCG measurement and Doppler ultrasound, then confirmed on dynamic angio-MRI, which tends to replace angiography as first-line. The therapeutic management in cases of symptomatic AVMs is mostly embolization which offers the possibility for childbearing. Current data on subsequent pregnancies is reassuring even if they remain limited.

Resume On estime que pres de 15 % des cancers du sein surviennent chez des femmes a l’âge ou la maternite est possible, et que seules 7 % d’entre elles vont debuter une grossesse. La gonadotoxicite des chimiotherapies est evidente en particulier apres 40 ans, et la preservation de la fertilite chez les patientes traitees devient un veritable sujet de preoccupation en raison des progres therapeutiques : les techniques de procreation medicale assistee avec congelation embryonnaire restent actuellement les plus utilisees. La grossesse ne semble pas affecter le pronostic des cancers du sein avec les reserves que l’on peut avoir face a la litterature medicale, quels que soient le stade de la maladie, le nombre de grossesses et leur devenir. Des interrogations existent quant au delai conseille pour cette grossesse, consensuel a deux ans pour les formes de bon pronostic et cinq ans en cas d’histopronostic plus pejoratif. La grossesse obtenue doit etre l’objet d’une attention particuliere, les complications etant plus frequentes, tandis que l’allaitement reste possible. La grossesse est une periode a risque chez les patientes porteuses d’une mutation BRCA, sans qu’elle semble constituer un facteur de risque majeur (l’allaitement maternel etant possible). Les contraceptifs hormonaux augmentent le risque de cancer du sein en particulier chez les patientes en cours d’utilisation avec potentiellement un effet promoteur plus qu’initiateur. La composition des pilules (doses, type de progestatif) impacte le risque mammaire, meme si les etudes a notre disposition restent biaisees. On en rapprochera l’utilisation des dispositifs intra-uterins au Levonorgestrel. L’absence de preuves scientifiques indiscutables vis-a-vis du risque potentiel de la maternite et de la contraception hormonale doit conduire le praticien a une attitude de conseil et d’ecoute au cas par cas.

Vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome can be managed either by various surgeries or dilation. The choice still depends on surgeon's preferences rather than on quality comparative studies and validated protocols.We sought to compare dilation and surgical management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome, in terms of quality of life, anatomical results, and complications in a large multicenter population.Our multicenter study included 131 patients18 years, at least 1 year after completing vaginal agenesis management. All had an independent gynecological evaluation including a standardized pelvic exam, and completed the World Health Organization Quality of Life instrument (general quality of life) as well as the Female Sexual Function Index and Female Sexual Distress Scale-Revised (sexual quality of life) scales. Groups were: surgery (N = 84), dilation therapy (N = 26), and intercourse (N = 20). One patient was secondarily excluded because of incomplete surgical data. For statistics, data were compared using analysis of variance, Student, Kruskal-Wallis, Wilcoxon, and Student exact test.Mean age was 26.5 ± 5.5 years at inclusion. In all groups, World Health Organization Quality of Life scores were not different between patients and the general population except for lower psychosocial health and social relationship scores (which were not different between groups). Global Female Sexual Function Index scores were significantly lower in the surgery and dilation therapy groups (median 26 range [2.8-34.8] and 24.7 [2.6-34.4], respectively) than the intercourse group (30.2 [7.8-34.8], P = .044), which had a higher score only in the satisfaction dimension (P = .004). However, the scores in the other dimensions of Female Sexual Function Index were not different between groups. The Female Sexual Distress Scale-Revised median scores were, respectively, 17 [0-52], 20 [0-47], and 10 [10-40] in the surgery, dilation therapy, and intercourse groups (P = .38), with sexual distress in 71% of patients. Median vaginal depth was shorter in dilatation therapy group (9.6 cm [5.5-12]) compared to surgery group (11 cm [6-15]) and intercourse group (11 cm [6-12.5]) (P = .039), but remained within normal ranges. One bias in the surgery group was the high number of sigmoid vaginoplasties (57/84, 68%), but no differences were observed between surgeries. Only 4 patients achieved vaginas6.5 cm. Delay between management and first intercourse was 6 months (not significant). Seventy patients (53%) had dyspareunia (not significant), and 17 patients all from the surgery group had an abnormal pelvic exam. In the surgery group, 34 patients (40.5%) had complications, requiring 20 secondary surgeries in 17 patients, and 35 (42%) needed postoperative dilation. In the dilation therapy group, 13 (50%) needed maintenance dilation.Surgery is not superior to therapeutic or intercourse dilation, bears complications, and should therefore be only a second-line treatment. Psychological counseling is mandatory at diagnosis and during therapeutic management.

Oocyte donation, initially proposed in agonadal women, saw indications expand to ovarian deficiencies and failures of in vitro fertilization (IVF), resulting in a significant increasing demand. The recruitment of oocyte donors is a critical issue for all countries that have allowed this practice. The French legislation, with the laws of bioethics, is clearly the most restrictive of European countries, imposing an absolute free gift from mother. The different solutions in the neighboring countries are analysed and in particular the interpretations made in respect of gratuity and compensation. Motivating donors (spontaneous, relational, or by reciprocity), but also motivating the medical teams can organize a program of oocyte donation in France. The authors present their results of three years experience, demonstrating that this system is possible in the current legislative framework.

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 37 - N° 7 - p. 661-671

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (two-third) of the vagina. It may be isolated (type I) or associated with other malformations (type II or MURCS association). These latter involve the upper urinary tract, the skeleton and, to a lesser extent, the otologic sphere or the heart. The incidence of MRKH syndrome has been estimated as 1 in 4500 women. The prime feature is a primary amenorrhea in women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. However, the vagina is reduced to a vaginal dimple with variable depth. The ovaries are normal and functional as well as the endocrine status. Karyotype is 46,XX, with no visible chromosome modification. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or malformations and thus require accurate delineation as well as differential diagnosis. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing familial cases now support the hypothesis of a genetic cause currently under investigation. The syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity.

The authors report a case of pyoderma gangrenosum (PG) following a breast lumpectomy for a relapse of a breast cancer. The treatment has associated a systemic corticosteroid therapy and local wound care with vacuum assisted closure Vacuum-Assisted Closure and skin graft.

IntroductionMcCune–Albright syndrome (MAS) is characterized by peripheral precocious puberty, café-au-lait spots, and polyostotic fibrous dysplasia. This syndrome is due to a post-zygotic mutation of the GNAS1 gene with mosaic distribution and unilateral predominance. Clinical manifestations depend on the tissues carrying the mutation. We describe the ovarian function before and after unilateral ovariectomy in a woman with MAS and bilateral distribution of the GNAS1 gene mutation.Case reportA 33-year-old patient, previously diagnosed as having MAS, presented irregular menstrual cycles (30–180 days) and monophasic temperature curves. Transvaginal ultrasound and blood tests were repeated at 3-day intervals over 3 months. Findings included a persistent quiescent left ovary, a persistent polycystic right ovary, constantly high estradiol-17β (E2) levels, and very low FSH and LH levels. She also presented severe persistent pelvic pain. Because of unilateral ovarian activity, a unilateral right ovariectomy was performed as well as biopsy of the remaining left ovary. A GNAS1 gene mutation was identified in both ovaries. A regular monthly menstrual cycle was immediately restored. On day 3 of the menstrual cycle, E2 level was 30 pg/ml, FSH level was 7.5 mIU/ml, and LH level was 6.4 mIU/ml. On day 17, pelvic ultrasound showed one follicle of 25 mm in the left ovary. On day 21, the progesterone level was 13.1 ng/ml.DiscussionThis is the first report of ovulation being restored following unilateral ovariectomy in an adult patient suffering from severe MAS with GNAS1 gene mutation identified in both ovaries.

Terminal deletions of the long arm of chromosome 4 are associated with a recognizable phenotype consisting of dysmorphic facial features, cleft palate, upper and lower limb malformations, cardiac defects and growth and mental retardation. Here we report on two female patients, a mother and her daughter, carrying the same 4q34-->qter deletion but presenting with a different phenotype. The mother's presentation is consistent with previous findings in patients with terminal deletions of the long arm of chromosome 4. However, she presented at the age of 54years with bilateral serous carcinoma of the Fallopian tubes, a rare gynaecologic cancer that might be attributed to the haploinsufficiency of the tumor suppressor gene FAT. The daughter presented isolated congenital aplasia of the uterus and vagina, the prime feature of the MRKH syndrome. This has not been described before in association with a 46,XX,del(4)(q34qter).

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 35 - N° 3 - p. 227-236

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 44 - N° 1 - p. 10-17

Resume Objectif Decrire un cas de rupture des ligaments larges lors du troisieme trimestre de la grossesse. Cas rapporte Une patiente a ete admise pour un syndrome douloureux pelvien en fin de grossesse attribue initialement a une menace d’accouchement premature. L’apparition d’un hemoperitoine a conduit a une laparotomie avec cesarienne permettant le diagnostic et le traitement d’une rupture bilaterale des ligaments larges. Resultat la rupture des ligaments larges uterins est responsable d’un abdomen chirurgical aigu avec hemoperitoine chez la femme enceinte sans souffrance fœtale ni hemorragie genitale chez la mere justifiant une laparotomie exploratrice. Conclusion le diagnostic de cette affection est difficile en particulier en l’absence de notion evidente de traumatisme et est pose a posteriori lors de l’exploration chirurgicale.

International audience; OBJECTIVE: To develop and validate a predictive score to avoid unnecessary screening and prophylactic antibiotic use in abortion clinics by identifying a group of women who are at very low risk for Chlamydia trachomatis (CT) infection. METHODS: This population-based retrospective study includes 1000 women who underwent surgical abortion between January and September 2010. The main outcome measure was the rate of CT infection among women seeking an induced abortion according to sociodemographic and clinical data. The score was developed by using two-thirds of the data set as the derivation sample to identify the strongest predictors of CT. A receiver operating characteristic curve established cutoffs and applied the score to the remaining one-third (validation sample). RESULTS: The rate of CT infection was 6.7%. Three criteria were independently associated with CT: gestation more than 10 weeks (adjusted odds ratio [aOR], 1.96; 95% confidence interval [95% CI], 1.06-3.64), not using contraception (aOR, 2.70; 95% CI, 1.41-5.16), and having 0 or 1 child (aOR, 3.46; 95% CI, 1.34-8.93). The CT score was based on these 3 criteria. The low-risk group was derived from values of the score (probability of CT, 1.3% [95% CI, 0-3.0]). Application of these criteria to the validation data set confirmed the diagnostic accuracy of the score (probability of CT, 0%). Sensitivity was 100% and specificity was 26.9% for the score in the validation data set. When applied to the validation data set, the score avoided 25.4% of CT tests and screened 100% of CT-infected women before surgical abortion. CONCLUSIONS: This easy-to-calculate score may prove useful for avoiding CT test in 25% of patients seeking surgical abortion.

International audience; OBJECTIVE: 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.

None of the authors report any conflicts of interest.; International audience; OBJECTIVES: The incidence of neonatal respiratory morbidity following an elective caesarean section is 2-3 times higher than after a vaginal delivery. The microviscosity of surfactant phospholipids, as measured with fluorescence polarisation, is linked with the functional characteristics of fetal surfactant and thus fetal lung maturity, but so far this point has received little attention in new-borns at term. The aim of the study is to evaluate the correlation between neonatal respiratory morbidity and amniotic microviscosity (Fluorescence Polarisation Index) in women undergoing caesarean section after 37 weeks' gestation. STUDY DESIGN: The files of 136 women who had undergone amniotic microviscosity studies during elective caesarean deliveries at term were anonymised. Amniotic fluid immaturity (AFI) was defined as a Fluorescence Polarisation Index higher than 0.335. RESULTS: Respiratory morbidity was observed in 10 babies (7.3%) and was independently associated with AFI (OR: 6.11 [95% CI, 1.20-31.1] with p=0.029) and maternal body mass index (OR: 1.12 [95% CI, 1.02-1.22] with p=0.019). Gestational age at the time of caesarean delivery was inversely associated with AFI (odds ratio, 0.46 [95% confidence interval, 0.29-0.71], p

International audience; OBJECTIVE: : To assess the prevalence of Chlamydia trachomatis (CT) infection and the risk factors for CT infection among women presenting for abortion at a clinic in France. METHODS: : Women seeking surgically induced abortions were systematically screened by PCR on self-collected vaginal swabs between January 1, 2010, and September 30, 2010. CT-positive women were treated with oral azithromycin (1 g) before the surgical procedure. RESULTS: : Of the 978 women included in the study, 66 were CT positive. The prevalence was 6.7% (95% confidence intervals [CI] 5.1%-8.3%). The risk factors for CT infection were the following: age

International audience; BACKGROUNDThere is currently no consensus about indications for surgery for infertility associated with colorectal endometriosis. The aim of this study was to evaluate cumulative pregnancy rates (CPRs) after ICSI-IVF cycles in patients with colorectal endometriosis and to identify determinant factors of fertility outcome.METHODSProspective longitudinal multicentre study from January 2005 to June 2011. We included 75 patients with colorectal endometriosis and proved infertility without prior surgery for deep infiltrating endometriosis. Univariable analysis was used to identify determinant factors of pregnancy rate. CPR was calculated using cumulative-incidence methods from log-rank test and Kaplan-Meier curves. For multivariable analysis, Cox proportional hazards model was used.RESULTSFor CPR per patient analysis, the total number of cycles was 113 and the median number of cycles per patient was 1 (range: 1-3). In the whole population the CPR per patient after three ICSI-IVF cycles was 68.6%. The CPR for patients with or without associated adenomyosis was 19 and 82.4%, respectively (P= 0.01). In addition, a patient age over 35 years (P= 0.02) and anti-Mullerian hormone serum level under 2 ng/ml (P= 0.02) were associated with a decreased CPR per patient. At multivariable analysis, adenomyosis [HR = 0.34, 95% CI (0.12-0.99), P= 0.49] was associated with a decreased CPR.CONCLUSIONSOur data confirm that ICSI-IVF offers a high CPR per patient. However, determinant factors of CPR should be taken into account when informing couples of their options.

European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2011.158; published online 7 September 20111. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Mayer–Rokitansky–Ku¨ster–Hauser (MRKH) syndrome, MRKH type Ior isolated MRKH or Rokitansky sequence, MRKH type II or MURCSassociation (Mu¨llerian duct aplasia, renal dysplasia and cervical somiteanomalies), congenital absence of the uterus and vagina (CAUV),genital renal ear syndrome and Mu¨llerian aplasia (MA).1.2 OMIM# of the disease277000 (MRKH, CAUV) and 601076 (MURCS).1.3 Name of the analyzed genes or DNA/chromosome segments1q21.1, 4q34-qter, 8p23.1, 10p14–15, 16p11.2, 17q12, 22q11.21 andXpter-p22.32.1.4 OMIM# of the gene(s)Putative candidate genes: 189907 (TCF2)

The ITI (inter-trypsine inhibitor) gene family includes five genes (ITIH1 to ITIH5) that encode proteins involved in the dynamics of the extracellular matrix (ECM). ITIH5 was found inactivated by partial deletion in a case of congenital uterovaginal aplasia, a human rare disease also called Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The aim of the present study was to analyze the expression of ITIH5 in the uterus in adult life and during embryogenesis in order to establish the involvement of this gene in both normal and pathological conditions of uterus development. This was achieved in mice by reverse transcription-quantitative PCR, whole-mount hybridization, and Western blot analysis. Itih5 expression was much stronger in female genital tract primordia (Mullerian ducts) and derivatives than elsewhere in the body. This gene was strongly expressed during pregnancy and development of the female genital tract, indicating that the encoded protein probably had an important function in the uterus during these periods. Two different specific isoforms of the protein were detected in Mullerian derivatives during embryogenesis and in adults. Although ITIH genes are expected to be predominantly expressed in the liver, ITIH5 is mainly expressed in the uterus during development and adult life. This tends to indicate an additional and specific role of this gene in the female reproductive tract, and furthermore reinforces ITIH5 as a putative candidate gene for MRKH syndrome.

Background 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. Methods 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. The deletions detected were validated by Duplex PCR/liquid chromatography (DP/LC) and/or array-CGH analysis. Results 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. Conclusion 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.

International audience; AIMS: The authors analyzed the outcome of patients with Isolated Skin Recurrence After Salvage Mastectomy (ISRASM) performed after conservative treatment for breast carcinoma, taking into account initial tumor characteristics, intramammary recurrence (first recurrence) characteristics, local skin recurrence (second recurrence) characteristics, and the type of treatment at each stage of the breast cancer continuum. METHODS: Forty-two patients who had ISRASM between 1976 and 2007 were included in this retrospective study. Twenty-six factors were studied in univariate and multivariate analyses. RESULTS: Mean Overall Survival (OS) was 70.3 (±4.1) months. The 5-year OS rate was 66.6%. 31% of patients did not present any recurrence, 52% had locoregional recurrence and 14% metastatic recurrence following ISRASM. Univariate analysis showed that 4 prognostic factors were significantly related to OS and/or Disease-Free Survival (DFS): (1) initial chemotherapy after primary breast cancer (P = 0.09 and 0.01 respectively), (2) presence of emboli at the site of intramammary recurrence (first recurrence) (P = 0.02 and 0.03), (3) interval between first and second surgery of less than 3 years (P = 0.09 and 0.0003), and (4) inflammatory skin involvement at ISRASM (P = 0.005 and 0.17). Multivariate analysis showed that presence of emboli at the site of intramammary recurrence was significantly related to OS and that an interval between first and second recurrence of less than 3 years was significantly related to DFS. CONCLUSION: Our results show that ISRASM affects a group of breast cancer patients with predominantly local rather than metastatic disease. Prognostic factors depend on characteristics at initial breast cancer, first recurrence and second recurrence. Evidence-based guidelines are still required for ISRASM management.

To compare maternal and perinatal outcome in non-spontaneously and spontaneously conceived dichorionic twin pregnancies.We report a retrospective study of all 350 twin pregnancies delivered ≥22 weeks of gestation between January 1, 2001 and December 31, 2005 in a tertiary maternity unit. We compared maternal outcome, perinatal morbidity and neonatal mortality between spontaneous and non-spontaneous dichorionic twin pregnancies, with a subgroup analysis separating pregnancies following assisted reproduction technology (ART group) from those following ovarian induction alone (OI group). Generalized linear model and multivariate analysis were performed.The proportion of primiparous women and the mean maternal age were higher in the non-spontaneously conceived dichorionic twin pregnancy group as expected (70.2% vs. 38.2%, p0.001 and 32.1 ± 3.8 vs. 30.7 ± 4.6 years, p0.01). Multivariate analysis, adjusted for maternal age and parity, revealed that non-spontaneously conceived dichorionic twin pregnancies were associated with a higher risk of very preterm birth (OR 2.20, 95% confidence interval 1.02-4.77, p0.05), low birth weight (1.77, 1.21-2.61, p0.01), very low birth weight (1.99, 1.13-3.49, p0.05), NICU admission (1.66, 1.14-2.43, p0.01), and fetal or neonatal death (3.21, 1.30-7.95, p0.05). Multivariate analysis confirmed that the mean gestational age (p0.01) and mean birth weight of the first (p0.05) and second twins (p0.01) were lower in the non-spontaneously conceived dichorionic twin pregnancy group. These associations were confirmed in the OI group analysis (n=39) but not in the ART group (n=65). Ovarian induction was associated with an increase in the risk of preterm and very preterm births (2.25, 1.06-4.75, p0.05 and 3.47, 1.42-8.49, p0.01, respectively), low and very low birth weights (2.87, 1.63-5.05, p0.001 and 2.59, 1.33-5.07, p0.01, respectively), NICU admission (2.92, 1.67-5.11, p0.001) and fetal or neonatal death (4.20, 1.40-12.56, p0.05). The mean gestational age (p0.001) and mean birth weight of the first (p0.01) and second twins (p0.001) were also lower in the OI group.Twin pregnancies with dichorionic placentation following non-spontaneously conceived pregnancy are associated with a higher risk of adverse perinatal outcome compared with dichorionic spontaneously conceived twin pregnancies especially in case of ovarian induction alone.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). The first sign of MRKH syndrome is a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, and karyotype 46, XX without visible chromosomal anomaly. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or associations and thus require accurate delineation. For a long time the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now support the hypothesis of a genetic cause. In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance. However, the etiology of MRKH syndrome still remains unclear. Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment.

Single embryo transfer is the best way to reduce the risk of multiple pregnancy in IVF-intracytoplasmic sperm injection (ICSI). Between June 2002 and December 2004, all patients (first cycle, female age

A 66-year-old woman was diagnosed with vaginal melanoma. Sentinel node mapping was performed using Tc sulfur colloid. Planar scintigraphic acquisitions detected 2 sentinel nodes in the right external iliac region, which were laparoscopically removed with an anterior vaginectomy. Sentinel node mapping is feasible in cases of vaginal melanoma.

In recent years, couples who use technics of assisted human reproduction are becoming more numerous. IVF and microinjection (ICSI) path is the one we wanted to study. In order to provide optimum support of patients, to understand the experiences of treatment seems essential. The FertiQol tool is an internationally validated instrument to measure quality of life in individuals experiencing fertility problems. FertiqQol's study has been conducted in centre for assisted human reproduction at 'Rennes CHU Hopital Sud' on a sample of patients in IVF/ ICSI before and after treatment. No french study has been published to this day. By analysing the results of this study, supported by literature data show importance of support for these patients in their path. Pharmacist is a nearby health professional, it can be a resource person for these patients. For this, it is necessary that it has some dispensation's aids. The aim is therefore to provide media files, and offer personalized care pathways to allow better monitoring and good tolerability both psychologically and physically.; Depuis ces dernières années, les couples qui ont recours aux techniques d'assistance médicale à la procréation sont de plus en plus nombreux. Le parcours en FIV +/- microinjection (ICSI) est celui que nous avons souhaité étudier. Pour permettre un accompagnement optimal des patientes, comprendre le vécu du traitement parait essentiel. Le questionnaire FertiQol est un outil validé internationalement qui permet d'évaluer la qualité de vie des personnes ayant des problèmes de fertilité. L'étude FertiQol a été réalisée dans le service d'Assistance médicale à la Procréation du CHU Hôpital Sud de Rennes sur un échantillon de patientes en parcours FIV/ICSI avant et après traitement. Aucune étude française n'a été publiée jusqu'a ce jour. L'analyse des résultats de cette étude, appuyée par les données de la littérature, montrent l'importance d'un soutien pour ces patientes dans leurs parcours. Le pharmacien d'officine étant un professionnel de santé de proximité, il peut être une personne ressource pour ces patientes. Pour cela, il est nécessaire qu'il ait à sa disposition des outils d'aide à la dispensation. L'objectif est donc de réaliser des fiches supports, ainsi que proposer un parcours de soin personnalisé pour permettre un meilleur suivi et une bonne tolérance au traitement aussi bien sur le plan psychologique que physique.