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Reproductive Medicine

Reproductive Medicine is an international, peer-reviewed, open access journal on obstetrics and gynecology published quarterly online by MDPI.

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All Articles (184)

  • Case Report
  • Open Access

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.

5 June 2026

Radiological images from ultrasonography. Radiological images from ultrasonography. Scrotal ultrasound image showing small testes with no focal lesions or hydrocele. The testes size is indicated with + symbols and arrows.

IVF/ICSI Outcomes in Roma Women: First Evidence from a Tertiary Fertility Center

  • Dejan Mitić,
  • Sonja Pop-Trajković and
  • Mihailo Stanojević
  • + 4 authors

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.

25 May 2026

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.

24 May 2026

  • Case Report
  • Open Access

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.

18 May 2026

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Reprod. Med. - ISSN 2673-3897