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Diagnostics
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Diagnosis and Management of Reproductive Disorders
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Diagnosis and Management of Reproductive Disorders

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 March 2025) | Viewed by 8849

Special Issue Editors

Dr. Bogdan Doroftei

E-Mail Website
Guest Editor
Mother and Child Medicine Department, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Interests: human reproduction preimplantational genetic testing and rare disease endometriosis minimal invasive surgery
Special Issues, Collections and Topics in MDPI journals
Dr. Radu Maftei

E-Mail Website
Guest Editor
Mother and Child Medicine Department, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Interests: in vitro fertilization; obstetric and gynecological ultrasound; assisted reproductive technology; reproductive medicine; semen analysis; embryos; oocytes and retrieval; embryology
Dr. Ovidiu Dumitru Ilie

E-Mail Website
Guest Editor
Origyn Fertility Center, 3C Palace Street, 700032 Iasi, Romania
Interests: reproductive tract microbiota; reproductive biology; genetic abnormalities; fertility manipulation; biotechnology; experimental models

Special Issue Information

Dear Colleagues,

We are setting the grounds for a Special Issue entitled “Diagnosis and Management of Reproductive Disorders” as part of the journal Diagnostics. Thus, it is our great pleasure to invite you to submit a manuscript through which the field of reproductive medicine can be expanded and brought one step closer to improving patients’ quality of life, pregnancy success rates, and management strategies.

Considering that reproductive health is the quintessence not only of modern society but also of future generations, it is imperative to preserve its biology since various endo- and exogenous factors have been documented to exert, individually or in a collaborative manner, detrimental effects with long-lasting consequences that lead to impairment. This may subsequently reflect a high predisposition to distinct conditions that range from infections and sexual dysfunction to congenital abnormalities and cancer.

Therefore, recent advances in biotechnology and molecular biology may aid us in comprehending the overall nature of reproductive disorders by paving the way for novel research, clinical opportunities, and perspectives. Conclusively, this Special Issue intends to gather research articles performed on human patients or experimental models and literature synthesis papers.

Dr. Bogdan Doroftei
Dr. Radu Maftei
Dr. Ovidiu Dumitru Ilie
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • family planning
  • sex differences
  • psychological distress
  • reproductive disorders
  • in vitro fertilization
  • next generation sequencing
  • assisted reproductive technology
  • fertility status
  • reproduction
  • minimally and non-invasive diagnosis
  • infertility
  • fertility preservation
  • innovative therapies

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (6 papers)

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Research

23 pages, 1715 KiB  
Article
Vascular Endothelial Growth Factor Variants (936C/T, 634C/G, 2578A/C) and Their Genotype–Haplotype Association with Recurrent Implantation Failure in Infertile Women: A Single-Center Analytical Study
by Lucia Maria Procopciuc, Mihaela Iancu, Gabriela Valentina Caracostea, Iulian Goidescu, Adelina Staicu, Roxana Liana Lucaciu, Adriana Corina Hangan, Sidonia Gog Bogdan and Mihai Surcel
Diagnostics 2025, 15(7), 868; https://doi.org/10.3390/diagnostics15070868 - 28 Mar 2025
Viewed by 279
Abstract
Background: Vascular Endothelial Growth Factor (VEGF) is a key regulator in angiogenesis and contributes to a successful implantation. The current study has the following objective: to perform genotyping and haplotyping analysis to confirm whether the VEGF-936C/T, VEGF-634C/G, and VEGF- [...] Read more.
Background: Vascular Endothelial Growth Factor (VEGF) is a key regulator in angiogenesis and contributes to a successful implantation. The current study has the following objective: to perform genotyping and haplotyping analysis to confirm whether the VEGF-936C/T, VEGF-634C/G, and VEGF-2578C/A gene polymorphisms are associated with the susceptibility for recurrent implantation failure (RIF) in Romanian females at reproductive age. Materials and Methods: In total, 41 infertile women experiencing recurrent implantation failure and 44 women with minor infertility were genotyped for VEGF polymorphisms using PCR-RFLP analysis. Results: The VEGF-936C/T polymorphism in the dominant model, (C/T+T/T), represents an increased risk factor for recurrent implantation failure, the odds being 2.70 (95% CI: [1.04, 7.00]). Also, VEGF-2578C/A gene polymorphism represents the risk factor of RIF under the codominant (adjusted-OR = 5.28, 95% CI: [1.42, 19.65]) and recessive models (adjusted-OR = 5.15, 95% CI: [1.55, 17.09]). Patients carrying the VEGF-T936 allele or VEGF-C2578 allele had 2.25-fold and 2.36-fold increased odds of implantation failure (95% CI: [1.05, 4.81], p = 0.034) and 95% CI: [1.27, 4.39], p = 0.006), respectively. The results of the haplotype-based regression analysis reveal that patient carriers of the VEGF-936/-634/-2578 T-C-A haplotype had 12.39 increased odds of RIF. Also, carriers of the VEGF-936/-2578 T-A haplotype had 9.56-fold (p = 0.0113) increased odds of RIF after adjusting for age. Conclusions: We found a significant association between VEGF-936C/T and VEGF-2578C/A polymorphisms and the odds of RIF in this cohort of Romanian infertile women. Haplotype analysis suggested the role of VEGF-936/-634/-2578 T-C-A and VEGF-936/-2578 T-A haplotypes as a risk factors for RIF. Full article
(This article belongs to the Special Issue Diagnosis and Management of Reproductive Disorders)
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11 pages, 1003 KiB  
Article
COVID-19 and Female Fertility: An Observational Prospective Multicenter Cohort Study: Upholding Reproductive Rights in Emergency Circumstances
by Giuseppe Gullo, Alessandra Lopez, Carla Loreto, Gaspare Cucinella, Marco La Verde, Alessandra Andrisani, Sofia Burgio, Raffaela Carotenuto, Silvia Ganduscio, Giovanni Baglio, Valentina Billone, Antonio Perino, Pasquale De Franciscis and Susanna Marinelli
Diagnostics 2024, 14(19), 2118; https://doi.org/10.3390/diagnostics14192118 - 24 Sep 2024
Cited by 4 | Viewed by 2052
Abstract
Objectives: Currently available research data points to COVID-19-related multi-organ system damage. This study aims to evaluate the impact of SARS-CoV-2 on the reproductive health, that is, plasma levels of FSH, LH, estradiol, AMH, and antral follicular count, of women undergoing level II ART [...] Read more.
Objectives: Currently available research data points to COVID-19-related multi-organ system damage. This study aims to evaluate the impact of SARS-CoV-2 on the reproductive health, that is, plasma levels of FSH, LH, estradiol, AMH, and antral follicular count, of women undergoing level II ART techniques. Methods: This is a multicenter, prospective, and observational study by the reproductive medicine centers of Palermo’s Ospedali Riuniti Villa Sofia-Cervello Hospital and Vanvitelli University. From September 2022 to March 2024, 203 patients aged 24–43 were enrolled, all with diagnosed infertility and a history of SARS-CoV-2 infection. Symptomatic women, patients testing positive for HIV or other liver viruses, and patients with a history of ovarian cancer or who had taken gonadotoxic drugs were excluded. Plasma measurements of FSH, LH, estradiol, AMH, and antral follicular count were performed before and after infection. Results: The analysis accounting for the concentration of anti-Müllerian hormone (AMH) before and after COVID-19 infection shows an average concentration decrease from 1.33 ng/mL before SARS-CoV-2 infection to 0.97 ng/mL after infection. Average decrease after infection was −27.4%; average reduction of 1 follicle (95% CI: from −0.74 to −1.33) was reported following SARS-CoV-2 infection. Levels of E2 before and after SARS-CoV-2 infection did not vary significantly. Average FSH and LH levels before and after SARS-CoV-2 infection pointed to an increase. Conclusions: SARS-CoV-2 infection damages female reproductive health, causing significant reductions in AMH (−27.4%) and AFC (−1 antral follicle) values and an increase in FSH (+13.6%) and LH (+13.4%) values. No effect on E2 levels was reported. The pandemic has also affected the ability of infertile patients to access ART procedures, and that calls for a novel, updated blueprint designed to enhance our preparedness in the event that similar circumstances should occur again. Full article
(This article belongs to the Special Issue Diagnosis and Management of Reproductive Disorders)
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10 pages, 715 KiB  
Article
Altered Expression of C4BPA and CXCL1 Genes in the Endometrium of Patients with Recurrent Implantation Failure after In Vitro Fertilization and Thin Endometrium
by Gaukhar Kurmanova, Yeldar Ashirbekov, Almagul Kurmanova, Nagima Mamedaliyeva, Gaukhar Moshkalova, Gaini Anartayeva, Damilya Salimbayeva and Aidana Tulesheva
Diagnostics 2024, 14(17), 1967; https://doi.org/10.3390/diagnostics14171967 - 6 Sep 2024
Viewed by 993
Abstract
Currently, recurrent implantation failure (RIF) after in vitro fertilization is a problem that is commonly faced by reproductive specialists. The phenomenon of a thin endometrium in RIF patients is not yet completely understood or sufficiently treated. This study aimed to reveal the dysregulated [...] Read more.
Currently, recurrent implantation failure (RIF) after in vitro fertilization is a problem that is commonly faced by reproductive specialists. The phenomenon of a thin endometrium in RIF patients is not yet completely understood or sufficiently treated. This study aimed to reveal the dysregulated expression of selected genes between RIF patients with a thin endometrium and fertile women. Endometrial samples were collected in the implantation window (21–24 days of the natural menstrual cycle) from RIF patients (n = 20) and fertile women (n = 14). Ten genes were chosen as target genes regarding their possible relations with the implantation process. The endometrial gene expression levels showed differences in RIF samples compared to fertile samples. Significant downregulation was observed for the CXCL1 (p = 0.005) and C4BPA (p = 0.03) genes. There was no statistically significant difference between the RIF group and the fertile group in the expression of eight genes: CXCL8, HPRT1, MMP10, INFG, VEGFB, HAND2, IL-15, and TNC (p > 0.05). The use of a combination of two markers (C4BPA + CXCL1) allows for the good discrimination of RIF patients from fertile women (AUC 0.806). Full article
(This article belongs to the Special Issue Diagnosis and Management of Reproductive Disorders)
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11 pages, 778 KiB  
Article
Association of Polymorphisms in FSHR, ESR1, and BMP15 with Primary Ovarian Insufficiency and Meta-Analysis
by Jeong Yong Lee, Young Ran Kim, Eun Ju Ko, Chang Soo Ryu, KyuBum Kwack, Eun Duc Na, Ji Eun Shin, Ji Hyang Kim, Eun Hee Ahn and Nam Keun Kim
Diagnostics 2024, 14(17), 1889; https://doi.org/10.3390/diagnostics14171889 - 28 Aug 2024
Cited by 1 | Viewed by 1186
Abstract
Primary ovarian insufficiency (POI) can lead to menstrual disturbance, resulting in ovarian dysfunction before age 40. Prevalence of POI is usually less than 1%; however, ethnicity or population characteristics may affect prevalence. POI is a heterogeneous disease that results from abnormalities in immunological [...] Read more.
Primary ovarian insufficiency (POI) can lead to menstrual disturbance, resulting in ovarian dysfunction before age 40. Prevalence of POI is usually less than 1%; however, ethnicity or population characteristics may affect prevalence. POI is a heterogeneous disease that results from abnormalities in immunological and hormonal factors. Genetic factors can also contribute to POI. Here, we examine FSHR, ESR1, and BMP15 polymorphisms in patients with POI, and controls. We examined a hormonal gene that is important for pregnancy, follicle-stimulating hormone receptor (FSHR), as well as estrogen receptor 1 (ESR1), and associated it with FSHR expression, ovulation rate, and bone morphogenetic protein 15 (BMP15). We examined 139 Korean patients under age 40 with POI, and 350 Korean control participants without POI. Genotyping was performed by a polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and TaqMan assays. Each identified genotype was subjected to statistical analysis to determine the odds ratios (ORs) and 95% confidence intervals (CIs). In combination genotype analyses, FSHR rs6165 A > G combined with ESR1 rs9340799 A > G, AG/GG (OR: 5.693; 95% CI: 1.088–29.792), as well as FSHR rs6166 A > G combined with ESR1 rs9340799 C > T, AG/GG (OR: 5.940; 95% CI: 1.134–31.131), were significantly associated with POI prevalence. Furthermore, an FSHR rs6165 A > G and BMP rs17003221 C > T, AG/CC combination was associated with POI prevalence (OR: 1.874; 95% CI: (1.059–3.316; p-value: 0.031)). In meta-analysis, FSHR rs6165 AA vs. AG + GG is associated with POI (p = 0.0013), and ESR1 rs2234693 AA vs. AG + GG is also associated with POI (p = 0.0101). Here, we compared the genotypes of FSHR, ESR1, and BMP15 in patients with POI, and controls. We found significant differences in genotype combinations between polymorphisms in FSHR and other genes. Through meta-analysis, we found that ESR1 rs9340799 and rs2234693 are associated with POI prevalence, and that BMP15 rs17003221 increases POI risk. These findings help to improve POI diagnosis in Korean women. Full article
(This article belongs to the Special Issue Diagnosis and Management of Reproductive Disorders)
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13 pages, 2462 KiB  
Article
Overexpression of Connexin 40 in the Vascular Endothelial Cells of Placenta with Acute Chorioamnionitis
by Jia Yee Tan, Hannah Xin Yi Yeoh, Wai Kit Chia, Jonathan Wei De Tan, Azimatun Noor Aizuddin, Wirda Indah Farouk, Nurwardah Alfian, Yin Ping Wong and Geok Chin Tan
Diagnostics 2024, 14(8), 811; https://doi.org/10.3390/diagnostics14080811 - 12 Apr 2024
Cited by 1 | Viewed by 1599
Abstract
Background: Connexins (Cx) 43 and 40 play a role in leukocytes recruitment in acute inflammation. They are expressed in the endothelial cells. They are also found in the placenta and involved in the placenta development. Acute chorioamnionitis is associated with an increased risk [...] Read more.
Background: Connexins (Cx) 43 and 40 play a role in leukocytes recruitment in acute inflammation. They are expressed in the endothelial cells. They are also found in the placenta and involved in the placenta development. Acute chorioamnionitis is associated with an increased risk of adverse perinatal outcomes. The aim of this study was to determine the expressions of Cx43 and Cx40 in the placenta of mothers with acute chorioamnionitis, and to correlate their association with the severity of chorioamnionitis and adverse perinatal outcomes. Methods: This study comprised a total of 81 cases, consisting of 39 placenta samples of mothers with acute chorioamnionitis and 42 non-acute chorioamnionitis controls. Cx43 and Cx40 immunohistochemistry were performed on all cases and their expressions were evaluated on cytotrophoblasts, syncytiotrophoblasts, chorionic villi endothelial cells, stem villi endothelial cells, maternal endothelial cells and decidua of the placenta. Results: Primigravida has a significantly higher risk of developing acute chorioamnionitis (p < 0.001). Neonates of mothers with a higher stage of fetal inflammatory response was significantly associated with lung complications (p = 0.041) compared to neonates of mothers with a lower stage. The expression of Cx40 was significantly higher in fetal and maternal vascular endothelial cells in acute chorioamnionitis (p < 0.001 and p = 0.037, respectively) compared to controls. Notably, Cx43 was not expressed in most of the types of cells in the placenta, except for decidua. Both Cx43 and Cx40 expressions did not have correlation with the severity of acute chorioamnionitis and adverse perinatal outcomes. Conclusion: Cx40 was overexpressed in the fetal and maternal vascular endothelial cells in the placenta of mothers with acute chorioamnionitis, and it may have a role in the development of inflammation in placenta. Full article
(This article belongs to the Special Issue Diagnosis and Management of Reproductive Disorders)
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12 pages, 2606 KiB  
Article
Killer Cell Immunoglobulin-like Receptor Genotypes and Reproductive Outcomes in a Group of Infertile Women: A Romanian Study
by Mihai Surcel, Iulia Adina Neamtiu, Daniel Muresan, Iulian Goidescu, Adelina Staicu, Monica Mihaela Marta, Georgiana Nemeti, Radu Harsa, Bogdan Doroftei, Mihai Emil Capilna and Gabriela Caracostea
Diagnostics 2023, 13(19), 3048; https://doi.org/10.3390/diagnostics13193048 - 25 Sep 2023
Cited by 1 | Viewed by 1772
Abstract
A growing body of evidence suggests that endometrial immune disorders may be responsible for endometrial dysfunctions that can lead to gynecological and obstetrical pathology. The aim of this study was to explore the potential relationship between different killer cell immunoglobulin-like receptor (KIR) genotypes [...] Read more.
A growing body of evidence suggests that endometrial immune disorders may be responsible for endometrial dysfunctions that can lead to gynecological and obstetrical pathology. The aim of this study was to explore the potential relationship between different killer cell immunoglobulin-like receptor (KIR) genotypes and reproductive outcomes. We conducted a prospective cohort study that included 104 infertile patients undergoing an in vitro fertilization procedure. All participants underwent clinical and ultrasound examination, genetic evaluation (KIR genotyping), endometrial washing fluid sampling for cytokine determination, endometrial tissue sampling for histologic assessment and hysteroscopic evaluation. Our analysis showed statistically significant lower levels of uterine cytokines TNF-α (p = 0.001) and IL-1beta (p = 0.000) in the KIR AA genotype group as compared to KIR AB and BB among study participants with chronic endometritis. The study results suggest that the KIR AA genotype population subgroups may be more susceptible to developing endometrial disorders such as chronic endometritis. The changes in the behavior of NK cells seem to be subtle and expressed as an altered regulatory pattern. Full article
(This article belongs to the Special Issue Diagnosis and Management of Reproductive Disorders)
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