Introduction: BRCA1 and BRCA2 genes mutations seems to impact female fertility, in addition to increasing the risk of ovarian and breast cancer. Several studies had investigated this issue but data available are still controversial. In order to clarify the role of BRCA1 and BRCA2 mutations in female fertility and ovarian function we carried out a systematic review of the literature with the aim to establish a possible management's strategy of these patients.
Evidence acquisition: A review of current literature regarding BRCA mutation (BRCAm) and fertility was conducted using the PubMed tool to select remarkable articles with the keywords "BRCA1/2 gene," "BRCA1/2 mutation," "anti-Müllerian hormone," "female fertility," "ovarian reserve" and "premature ovarian failure."
Evidence synthesis: In current literature there are controversial findings about the relation between BRCA genes mutations and lifespan of female reproductive age. Several studies showed an higher risk of premature ovarian insufficiency of BRCAs mutations carriers, according to lower serum AMH level, primordial follicle count, or fewer oocyte yield after ovarian stimulation; on the other hand more recent studies reported not significant differences in serum AMH level or in reproductive outcomes between mutated and non-mutated BRCA patients. For this reason, currently there is not a strict recommendation for routine evaluation of fertility in female carriers of BRCA mutations. Nevertheless, the strong advice to complete childbearing by age 40 and then to undergo a risk-reducing salpingo-oophorectomy and the increased risk of infertility as a result of anticancer treatment in breast cancer BRCAm patients, make the issue of fertility and pregnancy planning in these women worthy of consideration.
Conclusions: A dedicated counseling to discuss these issues, eventually associated with a personalized assessment of serum AMH or antral follicle count in order to have a panoramic view of ovarian reserve, may be useful in the management of these patients.
Background: Office hysteroscopy (OH) is becoming increasingly popular. Our objective was to determine the use patterns, reported pain scores, and success rates of OH with the 2.9 mm Storz TrophyScope® and handheld portable Cooper surgical Endosee® device in a clinic without previous office hysteroscopy experience.
Methods: A prospective cohort study of a hysteroscopy quality improvement database was conducted in a tertiary care center gynecology clinic. Patients undergoing OH with either the Storz TrophyScope® or Cooper Surgical Endosee® device were included.
Results: Of the 171 office hysteroscopies, 77 utilized the TrophyScope®, with 8 (10%) being inadequate, while 94 utilized Endosee®, with 13 (14%) being inadequate (P=0.50). Of the 13 inadequate Endosee® hysteroscopies, 4 (31%) were due to visualization, 4 (31%) to patient intolerance, 3 (23%) to cervical stenosis, and 2 (15%) to a combination of these factors. Of the 8 inadequate TrophyScope® hysteroscopies, 7 (87%) were due to patient intolerance and 1 (13%) to cervical stenosis. Of the 150 adequate office procedures performed, 52 cases underwent subsequent procedures in the operating room (OR). Of these, 26 (84%) of 31 Endosee® cases and 18 (86%) of 21 TrophyScope® cases were in agreement with OR procedure findings. A subgroup analysis comparing mean pain levels did not significantly differ between the two hysteroscopes.
Conclusions: There was no difference in accuracy with OR pathologic diagnoses, adequacy of procedure, and reported pain scores when comparing the TrophyScope® and Endosee® in this prospective cohort. Larger studies are needed to confirm the sensitivity, and specificity for these newer, disposable office hysteroscopic devices.