Reprod. Med., Volume 7, Issue 2 (June 2026) – 11 articles

Background: Male DSD is a rare disorder in which individuals with an XX chromosomal background present as phenotypic males due to the presence of the SRY gene translocation. We present here cytogenetic and molecular characterization of rare phenotypic male patients with primary infertility involving SRY translocation on the X chromosome, resulting in the absence of Y centromeric sequences. Methods: Routine hormonal analysis, scrotal ultrasonography, karyotype and FISH analysis were performed. Results: Normal male appearing patients presented with a long history of primary infertility. Physical examination revealed bilateral small, soft testes but reportedly normal libido and erectile function. Hormonal analysis revealed hypergonadotropic hypogonadism with very low total testosterone, high FSH and LH. Semen analysis consistently revealed azoospermia, and multiple testicular sperm extraction procedures and bilateral varicocelectomy failed to retrieve sperm. Karyotyping and FISH showed 46,X,der(X)t(X;Y)(p22.1;p11.2), and SRY-positivity on the derivative X chromosome, respectively. Conclusions: These findings expand the spectrum of 46,XX male infertility with SRY-positivity and underscore the necessity of lifelong testosterone replacement therapy for the management of hypogonadism. Future efforts should aim to establish regional registries for DSD to document genetic diversity surveillance in underrepresented populations. Full article

Background: Data on assisted reproductive technology (ART) outcomes among Roma women are virtually absent from the literature, despite Roma being the largest and most socioeconomically marginalized ethnic minority in Europe. This study provides the first structured evaluation of IVF/ICSI outcomes among Roma women at a tertiary fertility center. Methods: A retrospective observational cohort study was conducted at the Clinic for Gynecology and Obstetrics, University Clinical Center Niš, Serbia (May 2010–September 2015). Roma (n = 88) and non-Roma women (n = 1197) undergoing IVF/ICSI were compared on baseline clinical, hormonal, and embryological parameters. Primary and secondary outcomes were clinical pregnancy and live birth, respectively. Multivariable logistic regression, propensity score matching (1:4, by age and AMH), first-cycle sensitivity analysis, and a machine learning pipeline (logistic regression, random forest, XGBoost) with SHAP interpretability analysis were applied. Results: Roma women were significantly younger (31.9 ± 4.0 vs. 34.5 ± 4.7 years; p < 0.001) and had a more favorable ovarian reserve profile (AMH 3.78 vs. 2.90 ng/mL; p = 0.004; FSH 6.87 vs. 8.23 IU/L; p < 0.001), yet had a markedly longer duration of infertility (9.3 vs. 6.3 years; p < 0.001). Clinical pregnancy rates (48.9% vs. 41.3%; p = 0.179) and live birth rates (28.4% vs. 30.9%; p = 0.720) were comparable between groups. In multivariable logistic regression and propensity score-matched analyses, Roma ethnicity was not an independent predictor of either outcome. XGBoost SHAP analysis ranked Roma ethnicity last (11th of 11) in feature importance for both clinical pregnancy (mean |SHAP| = 0.033) and live birth (mean |SHAP| = 0.009). The dominant predictors were the number of embryos transferred, AMH, and age. Only 88 Roma women accessed ART over the decade-long study period, indicating profound underutilization of fertility services. Conclusions: No independent association was detected between Roma ethnicity and IVF/ICSI outcomes within the statistical power afforded by the Roma subgroup (n = 88). An exploratory first-cycle live birth signal (adjusted OR = 0.478; 95% CI 0.249–0.920; p = 0.027), not replicated in primary or propensity-matched analyses, is interpreted as hypothesis-generating. The extreme underutilization of ART services among Roma women remains the most clinically salient observation and a priority for targeted public health intervention. Full article

Background: Sexual health is a fundamental pillar of well-being during the perinatal period. However, many studies suffer from scoring bias associated with zero values by failing to distinguish between women who are sexually inactive and those with physiological dysfunction. This study aimed to identify the distinct sociodemographic and psychological determinants of sexual inactivity versus sexual dysfunction quality in a Romanian perinatal cohort. Methods: An observational, cross-sectional study was conducted with 100 women (52% sexually active, 48% inactive). Participants were evaluated using the Female Sexual Function Index (FSFI), Patient Health Questionnaire-9 (PHQ-9), RSES (Rosenberg Self-Esteem Scale), and Generalized Anxiety Disorder-7 (GAD-7). Data were analyzed using binary logistic regression for activity status and multiple linear regression for functional quality. Results: Among sexually active women, 84.6% met the clinical criteria for sexual dysfunction (median FSFI = 21.6). Binary logistic regression revealed that self-esteem (RSES) was the sole independent predictor of sexual activity status (aOR = 1.144; 95% CI: 1.028–1.217, p = 0.016). Conversely, multiple linear regression showed that depression (PHQ-9) was the only significant independent predictor of functional quality (B = −0.73, p = 0.006). Maternal age, residence, and obstetric history did not significantly predict either outcome. Conclusions: Based on the findings of our preliminary, exploratory study, we propose a conceptual interpretation, framing perinatal sexuality as a potential two-stage process, where self-esteem appears to serve as a primary behavioral barrier for the resumption of intimacy, while depression serves as the primary disruptor of functional quality. Clinical interventions may benefit from moving beyond physical recovery to include psychological screening for body image and mood disorders to restore sexual quality of life. Full article

Background: Pregnancy following liver and kidney transplantation is rare. The presence of a rare genetic disorder and advanced chronic kidney disease (CKD) further complicates clinical management, for which evidence-based guidelines are limited. Case presentation: A 29-year-old woman with Alagille syndrome underwent combined liver and kidney transplantation in early childhood. She had stage 4 CKD, and her baseline creatinine was around 250 umol/L. Her pregnancy was unplanned and diagnosed at 19+1 weeks of gestation. After the diagnosis of pregnancy, immunosuppressive therapy was promptly adjusted, and potentially teratogenic medications were discontinued. At 21+1 weeks’ gestation, creatinine and urea levels rose despite multidisciplinary management, and she started renal replacement therapy. Despite ongoing multidisciplinary care, the pregnancy was complicated by placental abruption at 24+5 weeks, requiring a preterm cesarean section. A live-born female infant weighing 590 g was delivered. Discussion: The coexistence of CKD, long-term immunosuppression, and high obstetric risk requires early multidisciplinary assessment and individualized management. Currently, standardized protocols for monitoring and treatment are lacking in this rare population, making clinical decision-making particularly challenging, especially regarding CKD progression. Conclusion: Pregnancy in women with combined liver and kidney transplantation and advanced CKD carries a high risk of severe renal and obstetric complications. Preconception counseling and early referral to multidisciplinary teams may help improve management in similar rare clinical scenarios. Full article

Male infertility, implicated in nearly 50% of couples’ infertility cases, represents a major medical and sociocultural challenge in Morocco. This narrative review synthesizes available epidemiological, etiological, and genetic data within national and international contexts. In Morocco, male infertility is characterized by the frequent involvement of modifiable factors, notably varicocele, smoking, and occupational exposures. From a genetic standpoint, chromosomal abnormalities, particularly Klinefelter syndrome, together with Y chromosome microdeletions, especially within the AZFc region, represent the main identified etiologies. Emerging technologies, such as next-generation sequencing, offer promising diagnostic perspectives, although their clinical application remains limited and mainly confined to research. Despite advances in medically assisted reproduction, the management of male infertility in Morocco continues to face psychosocial and economic barriers, as well as inequalities in access to care. These findings underscore the need to establish national registries, conduct multicenter studies, and facilitate the translation of innovations (particularly multi-omics approaches) into clinical practice to improve male infertility management in the Moroccan context. Full article

As survival rates among patients with gynaecological cancers continue to improve, fertility preservation has become an increasingly important aspect of comprehensive cancer care, particularly for younger women diagnosed during their reproductive years. The impact of treatment on fertility varies according to cancer type, stage, and modality, necessitating individualised preservation strategies. Fertility preservation is both feasible and safe in carefully selected patients with early-stage gynaecological cancers. Oocyte and embryo cryopreservation remain the most widely accepted techniques, particularly when time allows for ovarian stimulation. Fertility-sparing surgeries, such as radical trachelectomy and conservative management of early endometrial cancer, have shown promising oncological and reproductive outcomes. However, barriers including access, timing, and awareness continue to limit broader implementation. In modern society, fertility-preserving strategies should form an integral part of treatment planning for reproductive-aged women with gynaecological malignancies. Early referral to a fertility specialist, patient-centred counselling, and a coordinated multidisciplinary approach are essential to optimise both oncological and reproductive outcomes. Further research and education are required to refine guidelines and expand access to fertility-preserving care. This review presents the current fertility preservation options available to women with gynaecological cancers, including cervical, ovarian, and endometrial malignancies, and highlights the importance of early multidisciplinary intervention in delivering personalised care. Full article

Background: Bushfire smoke exposure (BFSE) is associated with adverse pregnancy and neonatal outcomes; however, the specific impact of BFSE on pregnancies complicated by asthma is not well characterised. Methods: A retrospective cohort study analysed data from 22,166 pregnant women who gave birth in the Illawarra Shoalhaven region between January 2017 and December 2022. Women with asthma were identified by the ICD-10-AM code for asthma during hospital admission for birth. Exposure was defined using a fixed time-window assumption. Women were considered exposed to bushfire smoke if they experienced at least 4 weeks of their pregnancy between 25 October 2019 and 4 February 2020. Results: Prevalence of asthma in the total population was 8.31%. In the control cohort, outcomes for pregnant women with asthma were poorer than those without. Pregnant women with BFSE had increased odds of postpartum haemorrhage (OR 1.603; 95% CI 1.42–1.81), and decreased odds of gestational hypertension (OR 0.615; 95% CI 0.49–0.77), gestational diabetes mellitus (OR 0.703; 95% CI 0.63–0.79) and preterm birth (OR 0.813; 95% CI 0.67–0.98). Maternal asthma did not confound the relationship between BFSE and any of the primary study outcomes. Conclusions: This study emphasises the independent effects of asthma on pregnancy outcomes. The impact of BFSE on pregnant women with asthma remains unclear. Further research is needed to characterise the true effect of BFSE on pregnancies, uncomplicated and complicated by asthma. Full article

Background: In recent years, time-lapse incubators (TLs), which can maintain a stable culture environment, have been developed for use in in vitro fertilization (IVF) treatment. Methods: In this retrospective cross-sectional study, data from 1200 women who visited the Creation and Love fertility center between April 2021 and October 2023 were reviewed. Among them, the electronic medical records of 400 women aged 22–45 years who underwent IVF treatment were selected and divided into two groups according to the type of incubator used: 100 in the TL group and 300 in the conventional incubator (CI) group, to evaluate differences in embryo development. Among these participants, pregnancy outcomes were assessed in 150 women who underwent day 3 (cleavage-stage) fresh embryo transfer. Controlled ovarian stimulation was performed using a standard antagonist protocol. The primary outcome was a good embryo rate, and the secondary outcomes were the clinical pregnancy rate and live birth rate. Results: The mean age of the study population was 34.6 ± 5.4 years. The groups had similar good embryo rates (67.7% vs. 65.5%, p = 0.84), clinical pregnancy rates (49.0% vs. 52.0%, p = 0.86), and live birth rates (35.0% vs. 42.0%, p = 0.76). Furthermore, subgroup analyses showed that the live birth rate in women aged ≥ 35 years was higher in the TL group than the CI group (38.0% vs. 23.4%, p = 0.03). Conclusions: Based on the comparative analysis of live birth rates between women cultured using TLs and those using the CI during day 3 fresh-embryo transfer cycles, our study demonstrated a statistically significant increase in live birth rates among women ≥ 35 years in the TL group. Full article

Introduction: Ovarian tissue cryopreservation (OTC) has emerged as an important fertility preservation option for women and girls at risk of treatment-induced ovarian failure. However, long-term data on clinical utilization and reproductive outcomes remain limited. This study provides a 30-year regional overview of OTC practice in Western Sweden. Material and Methods: This retrospective observational cohort study included 60 patients who underwent OTC between 1995 and 2025 within a publicly funded regional fertility preservation program. Data on patient characteristics, indications, surgical approach, cryopreservation techniques, and reproductive outcomes were collected from medical records, tissue bank data, and fertility preservation registries. Results: Malignant diagnoses accounted for 51 cases (85%) of indications, most commonly hematologic malignancies and breast cancer, while 9 patients (15%) had benign conditions requiring gonadotoxic therapy. During follow-up, only one patient (1.7%) underwent ovarian tissue transplantation (OTT), resulting in recovery of endocrine function and a spontaneous twin pregnancy. Overall, 15 women (25%) achieved at least one pregnancy. Of these, 8 (13.3%) occurred spontaneously without prior transplantation, 4 (6.7%) were achieved through oocyte donation, 1 (1.7%) occurred after OTT, and 1 patient (1.7%) had both spontaneous and donor-egg pregnancies. Most women (45/60, 75%) had no documented pregnancy or fertility treatment during follow-up. Conclusions: Over three decades, OTC has been successfully implemented as part of a regional fertility preservation program. However, the low rate of tissue utilization and the predominance of spontaneous pregnancies highlight the gap between tissue preservation and clinical use. These findings underscore the need for improved patient selection, structured long-term follow-up, and individualized risk assessment to optimize the clinical impact of OTC. Full article

Background: Infertility is a growing global public health concern associated with reduced quality of life and increased anxiety and depressive symptoms across diverse populations. However, factors influencing mental health in women undergoing infertility treatment remain insufficiently understood. This study aimed to assess psychological distress and identify factors associated with anxiety and depression in women receiving infertility treatment. Methods: A cross-sectional study was conducted at a leading regional infertility referral center. Women with confirmed infertility were consecutively recruited during routine visits. Psychological distress was assessed using the validated Patient Health Questionnaire-4. Demographic, reproductive, and clinical data were collected from self-report and medical records. Associations of infertility duration and age with comorbidities and other demographic variables were evaluated using appropriate parametric and nonparametric tests, and correlations were examined using Spearman’s rank coefficient. Results: The mean age was 34.9 ± 5.9 years and the median duration of infertility was 3 years. Nearly half of participants had mild psychological distress (49.3%), while 16.7% and 2.7% had moderate and severe distress, respectively; 32% screened positive for anxiety and 17.3% for depression. Longer infertility duration was significantly associated with higher depressive symptom scores, whereas other demographic and clinical variables showed no significant associations. Conclusions: Psychological distress is highly prevalent among women with infertility, with depressive symptoms increasing with longer infertility duration. These findings highlight the need for routine psychological screening and integration of mental health support into infertility care in clinical practice and long-term treatment planning, emphasizing a comprehensive, patient-centered approach to reproductive medicine. Full article

Background/Objectives: Hyaluronic acid (HA) has been proposed as a physiological alternative to polyvinylpyrrolidone (PVP) for sperm immobilization during intracytoplasmic sperm injection (ICSI). This prospective sibling-oocyte study aimed to compare embryological outcomes and morphokinetic parameters between HA and PVP. Methods: A total of 811 sibling-oocytes from 51 ICSI cycles were allocated to the HA group (SpermCatch; n = 377) or the PVP group (10% PVP Solution; n = 434). Fertilization outcomes, cleavage, blastocyst formation, and good-quality embryo development were assessed. Embryo morphokinetic parameters (t2–tB) and an AI-derived embryo score were analyzed in a subset of blastocysts with available time-lapse data. Results: The fertilization rates were comparable between the HA and PVP groups (80.9% vs. 85.3%, p = 0.25), as were the cleavage rates (99.0% vs. 97.0%, p = 0.27). However, the HA group had significantly lower rates of good-quality cleavage-stage embryos (33.4% vs. 47.9%, p < 0.01), blastocyst formation (52.3% vs. 69.9%, p < 0.01), and good-quality blastocysts (49.4% vs. 64.1%, p < 0.01). Morphokinetic timings did not differ significantly, whereas embryos in the HA group showed lower AI scores than those in the PVP group (p = 0.04). Conclusions: In this prospective sibling-oocyte cohort, HA-based sperm immobilization did not improve embryological outcomes compared with conventional PVP-assisted ICSI. Differences observed at the blastocyst stage should be interpreted cautiously and require confirmation in larger, randomized studies with clinical follow-up. Full article