Differences in clinical outcomes between men with mosaic Klinefelter syndrome and those with non-mosaic Klinefelter syndrome.

Purpose: This study compared the clinical outcomes of men with Klinfelter syndrome based on karyotype. Methods: The authors analyzed the outcomes of microdissection testicular sperm extraction (micro-TESE) performed on 57 patients with Klinfelter syndrome (KS) at our clinic. Results: The average ages of the non-mosaic and mosaic KS groups were 32.2 ± 4.8 and 45.9 ± 13.1 years, respectively. The sperm retrieval rates of the non-mosaic and mosaic KS groups were 46.5% (20/43) and 50.0% (7/14), respectively. The fertilization rates after intracytoplasmic sperm injection did not significantly differ between the non-mosaic and mosaic KS groups. The mosaic KS group had higher cleavage and blastocyst development rates than the non-mosaic KS group (72.2% vs. 96.2% and 30.5% vs. 44.7%, respectively). The group using motile sperm had better outcomes than the group using immotile sperm. The embryo transfer outcomes of the non-mosaic and mosaic KS groups did not significantly differ (clinical pregnancy rate: 28.0% vs. 20.7%, miscarriage rate: 14.3% vs. 33.3%, production rate per transfer: 22.0% vs. 13.8%, and production rate per case: 58.8% vs. 57.1%). Conclusions: Compared with the non-mosaic KS group, the mosaic KS group had significantly better intracytoplasmic sperm injection outcomes because of the higher utilization rate of motile sperm.

Clinical outcome of intrauterine infusion of platelet-rich plasma in patients with recurrent implantation failure.

PURPOSE: This study aimed to evaluate the effectiveness of intrauterine infusion of platelet-rich plasma (PRP) before embryo transfer (ET) in recurrent implantation failure (RIF) cases. METHODS: The authors retrospectively analyzed 54 ET cycles involving frozen and thawed high-quality blastocysts after intrauterine PRP infusion between September 2019 and November 2020. All patients had a history of at least two times of implantation failure on ET. A total of 54 patients were categorized into two groups: thin endometrium (39 patients) and unexplained implantation failure (15 patients). In the thin-endometrium group, the endometrial thickness (EMT) was <8.0 mm at cycle days 12-14 in the prior ET cycle. RESULTS: Among the 54 ET cycles after PRP infusion, 31 (57.4%) were positive for human chorionic gonadotropin (hCG) and 27 (50%) achieved clinical pregnancy, which was significantly better than that in prior ET cycles without PRP infusion (27.2% and 9.6%, respectively). The EMT was not increased at ET date on the PRP cycle compared with that in the prior ET cycle in both patient groups. Moreover, EMT was not different between the hCG-positive and hCG-negative groups. CONCLUSION: Although intrauterine PRP infusion had no superior effect on increasing the EMT than conventional therapeutic agents, it resulted in high pregnancy rates in patients experiencing RIF with or without thin endometrium.

Sperm retrieval from a male with the rare 47, XXYqs variant of Klinefelter syndrome for intracytoplasmic sperm injection: A case report.

A 27-year-old man with nonobstructive azoospermia was diagnosed with Klinefelter syndrome (KS) with a satellite Y chromosome (47, XXYqs) by karyotyping. Genetic analysis revealed azoospermia factor c (AZFc) microdeletion of gr/gr deletion in the Y chromosome. Microdissection testicular sperm extraction (micro-TESE) was performed in bilateral testes. Very few seminiferous tubules were bilaterally observed, and a minute number of spermatozoa obtained from the left testis were cryopreserved. Histologic examination of the left testicular tissue revealed severe tubular atrophy with only Sertoli cells accompanied by Leydig cell hyperplasia. Oocyte harvest was conducted in his wife in two different cycles after ovarian stimulation, and intracytoplasmic sperm injection was performed for 24 oocytes (8 and 16 oocytes respectively) using thawed spermatozoa. Fertilisation was confirmed in total of 19 oocytes (79.2%), with 15 cleaved embryos (62.5%). Two cleavage-stage embryos were cryopreserved at day 2, but no blastocysts developed. Frozen-thawed embryo transfer was performed using two cleavage-stage (day 2) embryos; however, the wife did not conceive. In conclusion, spermatozoa were successfully obtained by micro-TESE from a patient with 47, XXYqs. Despite failure of conception, the fertilisation and cleavage rates were comparable or better than those reported in patients with "typical" KS.

Effectiveness of high-dose transvaginal progesterone supplementation for women who are undergoing a frozen-thawed embryo transfer.

PURPOSE: To evaluate the effectiveness of high-dose progesterone supplementation for women who are undergoing a frozen-thawed embryo transfer (FET). METHODS: Among the 2010 FET cycles that were included in the present study, 1188 were 1200 mg/d of vaginal progesterone, while 822 were 900 mg/d. The dose of progesterone that was used was decided by the treatment period and additional progesterone supplementation was used when the serum progesterone levels were <9 ng/mL on luteal day 5. RESULTS: The clinical pregnancy rate was higher in the 1200 mg group than in the 900 mg group. The mean serum progesterone level on luteal day 5 in the 1200 mg and 900 mg groups was 12.6 ng/mL and 13.4 ng/mL, respectively. The rate of additional progesterone supplementation was higher in the 1200 mg group. A logistic regression analysis identified a younger age (≤37 years) and the use of 1200 mg progesterone as independent predictive factors for the clinical pregnancy outcome. The analysis of the infant outcomes revealed no significant difference in the distribution of birth ages and weights. CONCLUSION: High-dose transvaginal progesterone of 1200 mg/d as luteal support contributed to good pregnancy outcomes.

[Clinicopathological features of endometrial carcinoma in tamoxifen- and toremifene-treated breast cancer patients].

OBJECTIVE: Estrogen is involved in the development of breast and endometrial cancers, and tamoxifen, an antiestrogen, is associated with an increased risk of endometrial cancer. Recently, tamoxifen use is suggested to be associated with the development of aggressive endometrial tumors. We performed a retrospective study to clarify the effects of tamoxifen (TAM) and toremifene (TOR) on clinicopathological features of endometrial cancer subsequently developed in breast cancer patients. METHODS: Endometrial cancer patients diagnosed at our institution from 2000 through 2008 were studied. RESULTS: Of 194 patients with endometrial cancer, 18 (9.3%) developed breast cancer before endometrial cancer diagnosis. Mean age was 66 years, and the median time interval between breast and endometrial cancer diagnosis was 10 years (range, 1.5 -32 years). Nine patients developed aggressive tumors(serous, clear cell, small cell carcinoma, and carcinosarcoma), and the remaining nine developed endometrioid tumor. Patients with aggressive tumor had a lower 5-year disease-specific survival (0% vs 88%, p<0.01). Ten patients had used TAM and/or TOR, and six had not; aggressive tumors developed in six of 10 TAM/TOR users, and in one of six nonusers (p=0.15), and the 3-year disease-specific survival rate was not different between TAM/TOR users and nonusers (62% vs 53%, p=0.84). Time intervals from breast cancer and endometrial cancer diagnosis were 10-16 years for TAM users and 5-6 years for TOR users (p=0.02). CONCLUSION: Tamoxifen/toremifene use for breast cancer did not affect the prognosis of subsequent endometrial cancer in our small study; however, further studies were warranted. The use of toremifene may be associated with a shorter interval from breast cancer to endometrial cancer diagnosis compared to tamoxifen.