Reproductive Medicine and Biology最新文献

Purpose: To assess whether autoimmune thyroiditis is associated with obstetric, perinatal, and fetal complications in a nationally representative population of pregnant women.

Methods: This retrospective study utilized data from the U.S. Nationwide Inpatient Sample (NIS) and included women aged ≥ 18 years with delivery-related hospitalizations between 2016 and 2020. Patients were categorized based on the presence/absence of autoimmune thyroiditis. Propensity score matching was applied to balance baseline characteristics. Associations between autoimmune thyroiditis and adverse outcomes were assessed using multivariable logistic regression analysis.

Results: Among 3.76 million delivery-related hospitalizations, 17 716 were included. Autoimmune thyroiditis was independently associated with increased risk of gestational diabetes (adjusted odds ratio [aOR] = 1.10, 95% CI: 1.01-1.20), preeclampsia (aOR = 1.22, 95% CI: 1.08-1.38), induction of labor (aOR = 1.18, 95% CI: 1.09-1.26), failed induction of labor (aOR = 1.36, 95% CI: 1.07-1.72), abnormal fetal heart rate or rhythm (aOR = 1.15, 95% CI: 1.06-1.25), and fetal growth restriction (aOR = 1.33, 95% CI: 1.12-1.59). Associations were more pronounced in women younger than 35 years.

Conclusions: Autoimmune thyroiditis is associated with modest increases in adverse pregnancy risk and may inform risk assessment and individualized clinical monitoring.

Case: A non-consanguineous couple with recurrent pregnancy loss was found to be carriers of two different balanced reciprocal translocations: 46,XX,t(13;16)(q14;q23) and 46,XY,t(4;12)(q21.1;q15). They underwent IVF with PGT-SR, from which seven blastocysts were obtained.

Outcome: Only one embryo was identified as both euploid and structurally balanced. This embryo was transferred in a hormone replacement cycle, resulting in a successful pregnancy and the birth of a healthy male infant who inherited both parental balanced translocations.

Conclusion: This case demonstrates the feasibility and utility of PGT-SR in rare dual-carrier cases, underscoring the importance of tailored genetic counseling, careful embryo selection, and realistic prognostic discussion for couples with complex chromosomal abnormalities.

Purpose: To compare total testosterone (TT) measured by liquid chromatograph-tandem mass spectrometry (LC-MS/MS) with electro-chemiluminescent immunoassay (ECLIA) in the diagnosis and management of infertile women with polycystic ovary syndrome (PCOS).

Methods: Baseline TT was measured by LC-MS/MS and ECLIA in 906 infertile women with PCOS. The associations of TT from both methods with clinical phenotypes and fertility outcomes were estimated; relative risk (RR) and 95% confidence intervals (CIs) were computed. Subgroup analysis was conducted according to the TT levels.

Results: The average TT levels measured by ECLIA were higher than those measured by LC-MS/MS (mean percentage difference 23.8%, 95% limits of agreement -44.2% to 91.9%). When biochemical hyperandrogenism (HA) defined as TT ≥ 1.7 nmol/L by LC-MS/MS method, a higher proportion of patients were identified having biochemical HA using ECLIA (44.0% vs. 24.0%, p < 0.001) than LC-MS/MS. Only those with TT levels ≥ 1.7 nmol/L measured by LC-MS/MS had an increased risk of adverse fertility outcomes compared to patients with normal TT levels, including ovulation, preterm labor, and neonatal intensive care unit.

Conclusion: Our findings indicated that LC-MS/MS refined the diagnosis of biochemical hyperandrogenism and better identified the subgroup at genuine risk of adverse fertility outcomes in infertile women with PCOS.

Trial registration: The NIH Clinical Trial Registry number: NCT01573858 and Chinese Clinical Trial. Registry number: ChiCTR-TRC-12002081.

Purpose: To clarify the efficacy and safety of the estetrol 15 mg/drospirenone 3 mg combination among Japanese women with adenomyosis by post hoc analyses of a previous randomized clinical study.

Methods: Post hoc analyses were performed using data from a 16-week, multi-center, randomized, double-blinded, placebo-controlled, parallel-group study, followed by a 36-week, open-label extension study involving 162 Japanese women with dysmenorrhea. Participants received cyclic estetrol/drospirenone or placebo. The primary endpoint was the absolute change in total dysmenorrhea score from baseline to the end of the 16-week double-blinded period.

Results: Among participants with adenomyosis, estetrol/drospirenone reduced the change from baseline of the total dysmenorrhea score at Week 16 by 2.5. The between-treatment difference was estimated as -1.8 (two-sided 95% confidence interval: -2.5 to -1.0), showing a significant difference from placebo (p < 0.001). Responder rate, as the proportion of participants who achieved a ≥ 2.0-point reduction in total dysmenorrhea score from baseline, was 66.7% following 16-week estetrol/drospirenone treatment, significantly greater than with placebo (20.0%; p < 0.001). Fewer safety concerns were reported with estetrol/drospirenone treatment, including the occurrence of venous thromboembolism.

Conclusions: Estetrol/drospirenone ameliorates adenomyosis-associated symptoms, offering safer treatment with potentially reduced thromboembolic risk.

Trial registration: jRCT registration number: jRCT2011210023.

Purpose: We aimed to evaluate the sexual function in newlywed men or men just before marriage to better understand the current situation of the male sexual and reproductive function.

Methods: This study included 719 men visiting our hospital or clinic for fertility screening. Patient characteristics including age, sexual status, semen parameters, several symptoms, and blood analysis results were assessed. We compared several factors between patients with sexual dysfunction (SD group) and those with normal sexual function (SN group), and performed univariate and multivariate analyses to identify independent risk factors for sexual dysfunction.

Results: Of 719 men, 139 (19.3%) were identified as having sexual dysfunction, including erectile dysfunction [ED], n = 88 [12.2%]; ejaculatory dysfunction, n = 66 [9.1%]; and decreased libido, n = 35 [4.9%]. Significant differences between the SD and SN groups were observed in age, albumin, liver enzymes, triglycerides, blood sugar, and semen volume. In a multivariate analysis, only age, body mass index, and the Beck Depression Inventory score for depression remained significant risk factors for sexual dysfunction.

Conclusions: It was considered that men who are older, obese, or exhibit depressive symptoms are likely to experience sexual dysfunction before the initiation of fertility treatment.

Case: We herein report a rare case of a Japanese man diagnosed with cystic fibrosis (CF) following a workup for male infertility and recurrent pancreatitis and discuss the clinical and diagnostic implications in a population wherein CF is exceptionally rare. A 27-year-old Japanese man who presented with azoospermia underwent clinical evaluation, imaging, and genetic testing. The patient, who had a history of recurrent pancreatitis, was subsequently diagnosed with congenital bilateral absence of the vas deferens (CBAVD).

Outcome: Genetic analysis identified a homozygous c.1210-11 T > G variant in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This variant is classified as pathogenic and is associated with variable clinical phenotypes. Combined with the clinical symptoms, the patient was diagnosed with CF. Spermatozoa were successfully retrieved via testicular sperm extraction for future use in intracytoplasmic sperm injection. A literature review was also conducted to contextualize the genetic findings.

Conclusion: We report a rare case of CF caused by a homozygous c.1210-11 T > G CFTR variant in a Japanese individual. This case highlights that CFTR-RD, while rare, should be considered in Japanese patients presenting with CBAVD or idiopathic pancreatitis.

Purpose: To establish machine learning models using magnetic resonance imaging (MRI) data for estimating the collagen content of uterine leiomyomas and predicting the drug therapy effects.

Methods: For surgical patients (90 uterine leiomyomas), tumor signal intensity was quantified by multiple MRI sequences before surgery, and collagen content was quantified by trichrome staining after surgery. These results were used to establish prediction models for estimating collagen content using support vector regression (SVR) and ridge regression (Ridge). For patients who received gonadotropin-releasing hormone analogs (41 uterine leiomyomas), MRI was performed before and after treatment. Correlation between the collagen content estimated by prediction models and tumor reduction rate by GnRHa treatment was investigated.

Results: SVR and ridge models were able to estimate the collagen content with high accuracy [R ²: 0.579 (95% CI: 0.33-0.66) and 0.570 (0.27-0.62) in cross validation and 0.648 (0.31-0.85) and 0.675 (0.34-0.86) in Internal Validation]. Significant negative correlations [R: -0.714 (-0.58 to -0.81) and -0.700 (-0.56 to -0.80)] were shown between the estimated collagen content and the tumor reduction rate.

Conclusions: Collagen content of uterine leiomyomas can be estimated by machine learning models using MRI data and can predict the effect of drug therapy on tumor reduction.

Purpose: This cross-sectional survey aimed to determine the prevalence and characteristics of polycystic ovary syndrome (PCOS) and its isolated diagnostic features among Bangladeshi women aged 10-45 years, utilizing the 2023 International Evidence-Based Guidelines, incorporating anti-Mullerian hormone (AMH).

Methods: From April-September 2024, 1201 females were sampled across eight divisions of Bangladesh using history, physical examinations, and blood collection. Total testosterone (TT) and AMH levels were assessed, with specific cut-offs established from a healthy control group. Thyroid dysfunction and hyperprolactinemia were excluded.

Results: Of 1201 participants, 403 were excluded. Among 798 eligible women, 38 (4.8%) had both irregular cycles and significant hirsutism, 75 (9.4%) had only significant hirsutism, 141 (17.7%) had only irregular cycles, and 544 (68.2%) had neither. After TT and AMH evaluation and excluding two hyperprolactinemia cases, a 6.9% (55/798) prevalence was found among 57 women with probable PCOS. Familial predisposition, unhealthy sleep behavior, and higher androgenic and metabolic features were observed in women with PCOS versus controls. Metabolic syndrome frequency was higher among adult PCOS (33.3% vs. 4.0%) than adolescent PCOS.

Conclusions: The prevalence of PCOS among Bangladeshi women was 6.9%, with distinctive features compared to controls. Women with isolated diagnostic criteria require further evaluation and long-term follow-up.

Purpose: Mammalian sperm require a large amount of ATP to sustain motility. While glycolysis and oxidative phosphorylation (OXPHOS) are established ATP sources, they cannot fully explain motility maintenance under glucose-deprived conditions. This study examined whether gluconeogenesis functions as a third metabolic pathway supporting sperm energy production.

Methods: Sperm from mice, humans, cattle, and horses were comparatively analyzed under glucose-containing and glucose-free conditions with inhibitors of OXPHOS (FCCP) and fructose-1,6-bisphosphatase 1 (FBPase1). Motility and ATP levels were measured, and FBPase1 expression was assessed by Western blotting and immunofluorescence.

Results: Mouse sperm maintained motility without glucose, and inhibition of FBPase1 significantly reduced ATP and rapid progressive motility. FBPase1 was expressed in the midpiece and principal piece, indicating active gluconeogenesis. Similar patterns were observed in human and bovine sperm, suggesting a conserved mechanism among mammals.

Conclusion: Gluconeogenesis serves as a third metabolic platform that complements glycolysis and OXPHOS, enabling efficient substrate use and sustaining sperm motility. This discovery provides new insight into sperm metabolic flexibility and may contribute to treatments for male infertility and improved livestock reproduction.

Purpose: To ascertain whether ovarian hyperresponse and oocyte vitrification (OV) are associated with an increase in embryo aneuploidy.

Methods: Retrospective study involving 197 629 retrieved oocytes. We studied the euploidy rate (ER), the ER according to the number of retrieved oocytes (ERaRO) and according to the number of metaphase II oocytes (MIIO) (ERaMII), and the quotient "MIIO/retrieved oocytes" or mature oocyte rate (MOR).

Results: The maximal ERaRO corresponded when only one oocyte was recovered (27% ± 44%), and was somewhat lower when two oocytes were retrieved (14% ± 31%). From the 3rd oocyte until the 36th oocyte, the ERaRO remained constant at around 10%. Regarding MIIO, a similar pattern was observed. For a given number of oocytes, usually the ER was higher if MOR was 100%. Moreover, even when considering only cases with a 100% MOR, the ER was significantly higher in cases where there were 1-2 MIIO. Concerning OV, the regression analysis after adjustment showed that vitrified oocytes had a similar rate of aneuploidy to fresh oocytes.

Conclusions: Both ovarian hyperresponse and OV are safe procedures concerning embryo euploidy. The better ER obtained, especially in cases with 1-2 oocytes, opens a new line of research concerning the superior oocyte quality from the point of view of the euploidy of cycles with 1-2 oocytes.