Natural Pregnancy Seeking in Subfertile Women with Endometriosis.

Several pathogenetic mechanisms have been postulated to explain the association between endometriosis and subfertility. However, to date, definitive conclusions cannot be drawn. In this study, we hypothesized that the reduced exploitation of the natural chances of conception could be an additional detrimental factor. Due to dyspareunia or the need for hormonal treatment to temper pelvic pain, one may expect affected women to exploit less the chances of natural pregnancy. In this cross-sectional study of 292 women undergoing IVF, we investigated the severity of pelvic pain symptoms, the sexual function (using the Female Sexual Function Index [FSFI]), and the reproductive strategies of women with (n = 62) and without (n = 230) endometriosis. Basal clinical and demographic characteristics did not differ between the two groups. Conversely, all pelvic pain symptom scores were increased in women with endometriosis. Endometriosis patients also showed greater pain at the FSFI, but no other significant differences were detected as regards sexual function. The use of hormonal contraceptive agents did not differ between the study groups. Moreover, questions aimed at disentangle whether affected women exploited less the natural chances of pregnancy did not reveal any significant difference. In conclusion, this study does not support the hypothesis that women with endometriosis exploit less the chances of natural pregnancy, despite the presence of pelvic pain.

Infertility-related distress and female sexual function during assisted reproduction.

STUDY QUESTION: Is infertility-related distress a risk factor for impaired female sexual function in women undergoing assisted reproduction? SUMMARY ANSWER: Infertility-related distress, and especially social, sexual, and relationship concerns, is associated with female sexual dysfunction. WHAT IS KNOWN ALREADY: Women with infertility are more likely to present sexual dysfunction relative to those without infertility. Moreover, assisted reproduction is associated with increased risk for female sexual problems. To date, this higher proportion of sexual impairment in infertile women has been simplistically linked to the stress associated with the condition and investigated risk factors included mainly demographic and clinical variables. Quantitative studies aimed at identifying risk factors for sexual dysfunction that also included the evaluation of infertility-related distress are conversely lacking. STUDY DESIGN, SIZE, DURATION: This observational study was conducted at the Infertility Unit of the Fondazione Ca' Granda, Ospedale Maggiore Policlinico of Milan between 2017 and 2018. PARTICIPANTS/MATERIALS, SETTING, METHODS: We included 269 consecutive patients with infertility aged 24-45 (37.8 ± 4.0 years). Sexual function outcomes were sexual dysfunction (assessed with the Female Sexual Function Index), sexual distress (evaluated with the Female Sexual Distress Scale-Revised), dyspareunia, and number of intercourses in the month preceding ovarian stimulation. Infertility-related distress was measured with the Fertility Problem Inventory (FPI). The effects of potential confounders such as demographic variables (women's and partners' age and level of education) and infertility-related factors (type and cause of infertility, number of previous IVF cycles, and duration of infertility) were also examined. MAIN RESULTS AND THE ROLE OF CHANCE: Women with higher infertility-related distress were more likely to report sexual dysfunction (odds ratio = 1.02 per point of score; 95% CI, 1.01-1.03; P = 0.001). Three FPI domains (i.e. social, relational, and sexual concerns) were correlated with almost all sexual function outcomes (Ps < 0.05). LIMITATIONS, REASONS FOR CAUTION: Women who were not sexually active were not included, thus reasons for sexual inactivity should be further explored in future studies. Data regarding men (e.g. sexual function and infertility-related distress) were lacking, thus cross-partner effects were not examined. Recall bias (also due to the fact that questionnaires were administered on the day of oocytes retrieval) and social desirability bias may have also affected women's responses to the questionnaires. WIDER IMPLICATIONS OF THE FINDINGS: Social, relational, and sexual concerns should be assessed and addressed in psychological counselling with the infertile couple. STUDY FUNDING/COMPETING INTEREST(S): None. TRIAL REGISTRATION NUMBER: Not applicable.

Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.

OBJECTIVE: Stüve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypotonia. We discuss about the importance of prenatal diagnosis in SWS and the possibility of survival after the first year of life in patients suffering from this disease. METHODS: we report a case of Stüve-Wiedemann Syndrome detected by morphological examination in our Operative Unit. Prenatal presumptive diagnosis was given with two-dimensional and 3-D probe, during the second trimester of pregnancy. Caesarean section was performed at 38(th) week of gestation. Then diagnosis was genetically performed. RESULTS: at birth, clinical examination was concordant with the ultrasound findings. Genetic analysis also confirmed the presumptive diagnosis. Episodes of respiratory distress and hyperthermia decreased until it disappeared altogether at 1 year of age. CONCLUSION: we underline the usefulness of ultrasound study of fetal skeleton in the prenatal diagnosis. It allowed us to do an early detection of birth defects and their appropriate management.