Diagnosis and Prognosis of Gynecological and Obstetric Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 14775

Special Issue Editors


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Guest Editor Assistant
Obstetrics and Gynaecology Unit, AOOR Villa Sofia Cervello Hospital, University of Palermo, 90133 Palermo, Italy
Interests: laparoscopy; obstetric; infertility; gynecological malignancies; ultrasound
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Special Issue Information

Dear Colleagues,

This Special Issue, “Diagnosis and Prognosis of Gynecological and Obstetric Diseases”, focuses on presenting cutting-edge research and comprehensive reviews that span the breadth of gynecological and obstetric disorders. It encompasses a wide range of manuscripts detailing innovative diagnostic techniques, from advanced imaging modalities to novel biomarker assessments. Furthermore, it explores the latest prognostic models and strategies, aiming to enhance prediction accuracy for various gynecological cancers, pregnancy complications, and other obstetric conditions. By gathering expert insights and evidence-based findings, this Special Issue strives to advance clinical management and patient outcomes in the fields of gynecology and obstetrics.

Dr. Giuseppe Gullo
Guest Editor

Dr. Valentina Billone
Guest Editor Assistant

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Keywords

  • diagnosis
  • prognosis
  • gynecological and obstetric diseases
  • markers
  • screening

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Published Papers (10 papers)

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Research

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12 pages, 740 KB  
Article
Acromegalic Uteropathy: Specific Uterine Ultrasound Findings in Female Patients
by Irina Stanoevich, Aurika Asanova, Svetlana Vorotnikova, Andrey Belov, Ekaterina Grezina, Yulia Fedorova, Ugljesa Stanojevic, Larisa Dzeranova, Ekaterina Pigarova, Galina Melnichenko and Natalya Mokrysheva
Diagnostics 2026, 16(6), 956; https://doi.org/10.3390/diagnostics16060956 - 23 Mar 2026
Viewed by 140
Abstract
Background/Objectives: Acromegaly is a systemic connective tissue disease driven by chronic growth hormone (GH) and insulin-like growth factor-1 (IGF-1) excess; yet, the female reproductive tract—especially the extracellular matrix (ECM)-rich cervix—has been poorly studied. We aimed to compare uterine and cervical morphology in women [...] Read more.
Background/Objectives: Acromegaly is a systemic connective tissue disease driven by chronic growth hormone (GH) and insulin-like growth factor-1 (IGF-1) excess; yet, the female reproductive tract—especially the extracellular matrix (ECM)-rich cervix—has been poorly studied. We aimed to compare uterine and cervical morphology in women with acromegaly versus healthy controls and a gynecologic disease comparator, testing the hypothesis of selective cervical hypertrophy. Methods: We performed a retrospective case–control study of reproductive-age women who underwent pelvic ultrasound: acromegaly (n = 33), healthy controls (n = 45), and adenomyosis without acromegaly (n = 44). Uterine body measurements were obtained by TAUS/TVUS; cervical biometry was performed transvaginally in all cases. Volumes were estimated using the ellipsoid formula, and a uterus-to-cervix (U:C) volume ratio was calculated. Group differences were analyzed with Mann–Whitney tests and Bonferroni correction. Results: A total of 122 women were included. Uterine body length, width, AP size, and volume did not differ between acromegaly and either comparison group (all p-values non-significant). In contrast, cervical length, width, AP thickness, and volume were significantly higher in acromegaly than in healthy controls, with a corresponding reduction in the U:C volume ratio, indicating disproportionate cervical enlargement. Compared with adenomyosis, women with acromegaly again showed larger cervical width, AP thickness, and volume, together with altered U:C indices, whereas cervical length did not differ, suggesting a pattern not explained by nonspecific pelvic pathology. Conclusions: Women with acromegaly demonstrate a distinct uterine phenotype characterized by selective cervical hypertrophy with preserved uterine corpus size—an ECM-centric “acromegalic uteropathy.” This noninvasive morphometric signature may have diagnostic and procedural relevance and warrants confirmation in prospective studies. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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11 pages, 450 KB  
Article
Association of Peripheral Inflammatory Markers with Conception Outcomes Among Women with Endometriosis-Associated Infertility
by Oana Maria Gorun, Adrian Ratiu, Florin Gorun, Cosmin Citu, Voicu Caius Simedrea, Daniela-Eugenia Popescu, Roxana Folescu and Andrei Motoc
Diagnostics 2026, 16(3), 462; https://doi.org/10.3390/diagnostics16030462 - 2 Feb 2026
Viewed by 504
Abstract
Background: Predicting natural conception following surgical treatment remains a clinical challenge for endometriosis, a chronic inflammatory condition often associated with infertility. This study aimed to determine if simple, low-cost inflammatory biomarkers, such as NLR, dNLR, LMR, PLR, SIRI, PIV, and SII calculated from [...] Read more.
Background: Predicting natural conception following surgical treatment remains a clinical challenge for endometriosis, a chronic inflammatory condition often associated with infertility. This study aimed to determine if simple, low-cost inflammatory biomarkers, such as NLR, dNLR, LMR, PLR, SIRI, PIV, and SII calculated from routine preoperative blood tests are associated with spontaneous pregnancy in women with endometriosis-related infertility after laparoscopic surgery. Methods: A retrospective analysis was conducted on 78 women between the ages of 18 and 48 who underwent standardized laparoscopic surgery and were monitored for up to 18 months. Results: The pregnancy group had significantly lower NLR, dNLR, PLR, SIRI, and especially SII values than the non-pregnancy group. Among the evaluated markers, SII, NLR, and dNLR demonstrated the highest discriminative ability for spontaneous conception. In regression analyses, lower values of NLR and dNLR were associated with higher odds of spontaneous pregnancy. Conclusions: These findings suggest a correlation between preoperative inflammatory status and postoperative reproductive outcomes in women with endometriosis. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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11 pages, 224 KB  
Article
Exome-Based Identification of Candidate Genes in Sporadic Adenomyosis Cases
by Feyza Nur Tuncer, Nimet Eser Ma, Sevcan Aydin, Nura Fitnat Topbas Selcuki, Ipek Yildiz Ozaydin and Engin Oral
Diagnostics 2025, 15(23), 3069; https://doi.org/10.3390/diagnostics15233069 - 2 Dec 2025
Viewed by 598
Abstract
Background: Adenomyosis is a benign uterine disorder defined by the invagination of ectopic endometrial-like tissue into the myometrium, causing heavy menstrual bleeding and pain. While its pathogenesis remains unclear, shared-symptomology with endometriosis suggests a common mechanism. Adenomyosis is often diagnosed after age [...] Read more.
Background: Adenomyosis is a benign uterine disorder defined by the invagination of ectopic endometrial-like tissue into the myometrium, causing heavy menstrual bleeding and pain. While its pathogenesis remains unclear, shared-symptomology with endometriosis suggests a common mechanism. Adenomyosis is often diagnosed after age 40 due to its complex presentation and the need for histopathological confirmation, underscoring the need for non-invasive markers. Methods: Ten unrelated women with histopathological diagnosis of adenomyosis were recruited. All recruits completed the WERF-EPHect questionnaire and were additionally questioned about any comorbidities. Genomic DNA isolated from peripheral blood was subjected to whole exome sequencing (WES) on Illumina NovaSeq 6000 and was analyzed using the Pairend NGS Cloud platform. Variants were filtered for MAF < 1% and were prioritized based on functional relevance and impact determined by in silico prediction tools. Variant selection adhered to stringent quality metrics to identify candidate variants associated with adenomyosis. Results: WES analysis did not reveal any variant common to the cohort. A total of eight pathogenic and two likely pathogenic novel variants were identified. Moreover, novel variants of p.(Val331Ile) in EFHB and p.(Phe14Val) in MEIS1 were the most frequently shared genetic variants in the cohort. Conclusions: Our findings suggest novel candidate genes for adenomyosis that warrant validation and functional investigation in larger, independent cohorts. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
16 pages, 924 KB  
Article
Transcervical, Transabdominal and Transvaginal Chorionic Villus Sampling for Prenatal Diagnosis in Zagreb, Croatia: A Prospective Single-Operator Study on 5500 Cases
by Petra Podobnik, Tomislav Meštrović, Mario Podobnik, Ivan Bertović-Žunec, Igor Lončar, Kristian Kurdija, Dženis Jelčić, Zlata Srebreniković and Slava Podobnik-Šarkanji
Diagnostics 2025, 15(21), 2750; https://doi.org/10.3390/diagnostics15212750 - 30 Oct 2025
Viewed by 1629
Abstract
Background/Objectives: Chorionic villus sampling (CVS) is a pivotal diagnostic tool for early prenatal detection of chromosomal and genetic abnormalities; however, the safety and diagnostic efficacy of different CVS approaches remain a subject of clinical interest. This monocentric study compares transcervical (TC-CVS), transabdominal [...] Read more.
Background/Objectives: Chorionic villus sampling (CVS) is a pivotal diagnostic tool for early prenatal detection of chromosomal and genetic abnormalities; however, the safety and diagnostic efficacy of different CVS approaches remain a subject of clinical interest. This monocentric study compares transcervical (TC-CVS), transabdominal (TA-CVS) and transvaginal (TV-CVS) techniques, focusing on procedure-related fetal loss and diagnostic yield. Methods: In this 15-year, single-operator prospective study, a total of 5500 women underwent CVS between 10 and 14 weeks of gestation at a single center. Sampling was performed via TA-CVS (n = 4500), TC-CVS (n = 850), or TV-CVS (n = 150). Outcomes assessed included fetal loss rates, sample adequacy, early complications and hemodynamic changes measured by Doppler ultrasound. A p-value < 0.05 (two-tailed) was considered statistically significant. Results: Spontaneous abortion rates were significantly lower following TA-CVS (0.18%; 8/4500) compared to TC-CVS (0.6%; 5/850) and TV-CVS (1.3%; 2/150) (χ2 = 24.56, p < 0.001). Post hoc pairwise analysis showed significantly lower fetal loss in TA-CVS compared to TC-CVS, but not between TA-CVS and TV-CVS. Cytogenetic abnormalities were detected in 220 cases (4.0%), and clinically significant copy number variants (CNVs) were confirmed in fetuses with major structural malformations. Five-year follow-up showed no diagnosed intellectual disability among assessed children. Optimal tissue weight (10–20 mg) was more frequent with TA-CVS (66.7%) than TC-CVS (35.3%) or TV-CVS (36.7%) (χ2 = 350.92, p < 0.001). In a Doppler subset (n = 400), uterine, spiral, and interplacental artery PI changes were non-significant; the umbilical (p = 0.032) and middle cerebral arteries (p < 0.001) showed transient PI reductions after sampling. Conclusions: Transabdominal CVS demonstrated the most favorable balance of safety and diagnostic quality, suggesting it should be the preferred first-line technique in early prenatal diagnosis. Standardized technique and operator training remain critical to optimize outcomes. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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14 pages, 939 KB  
Article
Evaluating the Effect of Bile Acid Levels on Maternal and Perinatal Outcomes in Intrahepatic Cholestasis of Pregnancy: A Retrospective Study
by Petra Gregorc, Ivan Verdenik and Polona Pečlin
Diagnostics 2025, 15(17), 2185; https://doi.org/10.3390/diagnostics15172185 - 28 Aug 2025
Viewed by 2296
Abstract
Background: Intrahepatic cholestasis of pregnancy (ICP) is the most common reversible liver disorder linked to pregnancy, characterised by pruritus and elevated serum bile acids (BAs). Condition severity correlates with increased maternal and neonatal complications, and recent evidence highlights a significantly elevated risk [...] Read more.
Background: Intrahepatic cholestasis of pregnancy (ICP) is the most common reversible liver disorder linked to pregnancy, characterised by pruritus and elevated serum bile acids (BAs). Condition severity correlates with increased maternal and neonatal complications, and recent evidence highlights a significantly elevated risk of adverse perinatal outcomes, including stillbirth, when BA > 100 µmol/L. Methods: This retrospective study, conducted at a tertiary perinatology centre between 2019 and 2023, was performed in two phases. In the first phase, baseline group characteristics and pregnancy outcomes were compared between ICP and non-ICP (control) groups. In the second phase, outcomes were analysed across three ICP severity subgroups: mild (BA < 40 µmol/L), moderate (BA 40–99 µmol/L), and severe (BA ≥ 100 µmol/L). Results: A total of 210 patients diagnosed with ICP and 24,177 controls were included in the analysis. After multivariable regression, the results indicated that patients with severe ICP (BA ≥ 100 µmol/L) experienced significantly worse perinatal outcomes compared to those with mild or moderate disease: spontaneous preterm birth occurred in 26.7% of cases (p = 0.002), iatrogenic preterm birth in 36.7% (p < 0.001), meconium-stained amniotic fluid in 43.3% (p = 0.001), and neonatal intensive care unit (NICU) admission in 23.3% (p = 0.006). This subgroup also had the lowest mean birth weight (2830 g, p < 0.001). Notably, no stillbirths were recorded in any of the subgroups. Compared to controls, no major differences in maternal characteristics were noted, except in pregnancies conceived via in vitro fertilisation (IVF, p = 0.012) and those complicated by gestational diabetes (p = 0.040), both showing elevated risk for ICP development. Conclusions: This study confirms an association between ICP and increased perinatal complications, with severity of disease correlating with poorer outcomes. The findings highlight the need for standardised BA testing and improved strategies for perinatal management. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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13 pages, 1109 KB  
Article
NF-κB as an Inflammatory Biomarker in Thin Endometrium: Predictive Value for Live Birth in Recurrent Implantation Failure
by Zercan Kalı, Pervin Karlı, Fatma Tanılır, Pınar Kırıcı and Serhat Ege
Diagnostics 2025, 15(14), 1762; https://doi.org/10.3390/diagnostics15141762 - 12 Jul 2025
Cited by 2 | Viewed by 1544
Abstract
Background: Recurrent implantation failure (RIF) poses a major challenge in assisted reproductive technologies, with thin endometrium (≤7 mm) being a frequently observed yet poorly understood condition. Emerging evidence implicates nuclear factor-kappa B (NF-κB), a key transcription factor in inflammatory signaling, in impaired endometrial [...] Read more.
Background: Recurrent implantation failure (RIF) poses a major challenge in assisted reproductive technologies, with thin endometrium (≤7 mm) being a frequently observed yet poorly understood condition. Emerging evidence implicates nuclear factor-kappa B (NF-κB), a key transcription factor in inflammatory signaling, in impaired endometrial receptivity. However, its clinical relevance and prognostic value for live birth outcomes still need to be fully elucidated. Objective: We aim to evaluate the expression levels of endometrial NF-κB in patients with RIF and thin endometrium and to determine its potential as a predictive biomarker for live birth outcomes following IVF treatment. Methods: In this prospective case–control study, 158 women were categorized into three groups: Group 1 (RIF with thin endometrium, ≤7 mm, n = 52), Group 2 (RIF with normal endometrium, >7 mm, n = 38), and fertile controls (n = 68). NF-κB levels were assessed using ELISA and immunohistochemical histoscore. Pregnancy outcomes were compared across groups. ROC analysis and multivariable logistic regression were performed to assess the predictive value of NF-κB. Results: NF-κB expression was significantly elevated in Group 1 compared to Group 2 and controls (p = 0.0017). ROC analysis identified a cut-off value of 7.8 ng/mg for live birth prediction (AUC = 0.72, sensitivity 74%, specificity 75%). Multivariable analysis confirmed NF-κB is an independent predictor of live birth (p = 0.045). Histological findings revealed increased NF-κB staining in luminal and glandular epithelial cells in the thin endometrium group. Conclusions: Increased endometrial NF-κB expression is associated with thin endometrium and reduced live birth rates in RIF patients. NF-κB may serve not only as a biomarker of pathological inflammation but also as a prognostic tool for treatment stratification in IVF. Based on findings in the literature, the therapeutic targeting of NF-κB may represent a promising strategy to improve implantation outcomes. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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16 pages, 254 KB  
Article
Sexual Functioning and Depressive Symptoms in Women with Postpartum Thyroiditis
by Karolina Kowalcze, Gaspare Cucinella, Giuseppe Gullo and Robert Krysiak
Diagnostics 2025, 15(10), 1286; https://doi.org/10.3390/diagnostics15101286 - 20 May 2025
Cited by 2 | Viewed by 2942
Abstract
Background/Objectives: The presence of autoimmune thyroiditis was found to be associated with an increased prevalence of sexual dysfunction. Women’s sexual health was not investigated in postpartum disorders of the thyroid gland. The aim of this study was to assess female sexual functioning [...] Read more.
Background/Objectives: The presence of autoimmune thyroiditis was found to be associated with an increased prevalence of sexual dysfunction. Women’s sexual health was not investigated in postpartum disorders of the thyroid gland. The aim of this study was to assess female sexual functioning and depressive symptoms in postpartum thyroiditis. Methods: This study compared four groups of non-lactating women who gave birth within 12 months before the beginning of the study: women with postpartum thyroiditis and overt hypothyroidism (group A), women with postpartum thyroiditis and subclinical hypothyroidism (group B), euthyroid females with postpartum thyroiditis (group C) and healthy euthyroid females without thyroid disease (group D). All patients completed questionnaires assessing female sexual function (FSFI), and the presence and severity of depressive symptoms (BDI-II). Moreover, we assessed thyroid peroxidase and thyroglobulin antibodies, as well as serum levels of thyroid-stimulating hormone (TSH), free thyroid hormones, testosterone, dehydroepiandrosterone sulfate (DHEAS), estradiol and prolactin. Results: The mean total FSFI score was lower in women with overt hypothyroidism (22.74 ± 4.12) than in the remaining groups of women, lower in groups B (25.71 ± 3.84) and C (29.67 ± 4.00) than in group D (32.15 ± 2.98), as well as lower in group B than in group C. Compared to healthy controls, both groups of women with postpartum thyroiditis and thyroid hypofunction had lower scores for all domains, while euthyroid patients with postpartum thyroiditis had lower scores for sexual desire, sexual arousal and lubrication. The total BDI-II score was highest in group A (15.6 ± 3.2) and lowest in group D (7.8 ± 3.2). Serum testosterone and DHEAS levels were lower while serum prolactin levels were higher in women with postpartum thyroiditis than in healthy subjects. The lowest testosterone levels (1.02 ± 0.35 nmol/L) and estradiol levels (190 ± 80 pmol/L) and the highest prolactin concentration (39.9 ± 13.9 ng/mL) were found in group A. Conclusions: The obtained results show that postpartum thyroiditis is complicated by multidimensional impairment of female sexual functioning, which is accompanied by mood deterioration. Severity of sexual dysfunction and depressive symptoms in this clinical entity depends on the degree of thyroid autoimmunity and hypothyroidism. It seems that assessment of sexual functioning and mood should be recommended to all women with postpartum thyroiditis. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)

Review

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13 pages, 901 KB  
Review
Osteoporosis and Fracture Risk in Ovarian Cancer: Beyond the Oncologic Burden
by Mariagrazia Irene Mineo, Giorgio Arnaldi and Valentina Guarnotta
Diagnostics 2025, 15(23), 2966; https://doi.org/10.3390/diagnostics15232966 - 22 Nov 2025
Viewed by 925
Abstract
Background/Objectives: Osteoporosis is a prevalent condition characterized by reduced bone mass and microarchitectural deterioration, resulting in increased fracture risk. Ovarian cancer represents a paradigmatic model of cancer-related bone loss, owing to the combined effects of abrupt surgical menopause, chemotherapy, and tumor-driven pro-resorptive [...] Read more.
Background/Objectives: Osteoporosis is a prevalent condition characterized by reduced bone mass and microarchitectural deterioration, resulting in increased fracture risk. Ovarian cancer represents a paradigmatic model of cancer-related bone loss, owing to the combined effects of abrupt surgical menopause, chemotherapy, and tumor-driven pro-resorptive mechanisms. Methods: We conducted a narrative review of the literature on skeletal health in ovarian cancer. We synthesized current evidence on the pathogenesis, diagnostic strategies, and management of bone loss in women with ovarian cancer, with the aim of providing a disease-specific framework for clinical practice. Results: Available evidence highlights a multifactorial “triple hit” to bone health in ovarian cancer: accelerated estrogen deficiency following bilateral salpingo-oophorectomy, direct tumor-derived stimulation of osteoclast activity, and chemotherapy-induced skeletal toxicity. Despite the high incidence of bone loss and fractures, systematic bone health assessment is rarely integrated into oncological care. Dual-energy X-ray absorptiometry (DXA) remains the cornerstone diagnostic tool, complemented by vertebral morphometry and fracture risk algorithms. Antiresorptive therapies, particularly bisphosphonates and denosumab, together with calcium, vitamin D, exercise, and fall-prevention strategies, have demonstrated efficacy in reducing fracture risk, although disease-specific guidelines are still lacking. Conclusions: Fracture prevention in ovarian cancer survivors is often overlooked despite its significant impact on morbidity and quality of life. Integrating bone health assessment and early antiresorptive therapy into care pathways is warranted, and future studies should develop tailored guidelines to make bone protection a key element of survivorship care. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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Other

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11 pages, 1211 KB  
Case Report
AMH in PCOS and Beyond—Rare Case Series
by Ralitsa Robeva, Tzvetozar Mehandjiev, Roumen Dimitrov, Yuri Hranov, Silvia Andonova, Mihaela Mladenova, Atanaska Elenkova, George Hadjidekov and Sabina Zacharieva
Diagnostics 2026, 16(1), 123; https://doi.org/10.3390/diagnostics16010123 - 1 Jan 2026
Viewed by 1113
Abstract
Background and Clinical Significance: Anti-Müllerian hormone (AMH) is a dimeric glycoprotein secreted from the granulosa cells of the preantral and small antral follicles, which has entered routine clinical practice as a valuable tool for the diagnosis of different ovarian disorders. Increased AMH [...] Read more.
Background and Clinical Significance: Anti-Müllerian hormone (AMH) is a dimeric glycoprotein secreted from the granulosa cells of the preantral and small antral follicles, which has entered routine clinical practice as a valuable tool for the diagnosis of different ovarian disorders. Increased AMH levels have been recommended as a criterion for polycystic ovary syndrome (PCOS). However, its widespread use remains limited due to analytical diversity and contradictory age-specific thresholds, among other factors that modulate AMH levels. Case Presentation: Herein, we present a rare case series of women with increased AMH levels. The difficulties in the differential diagnosis of patients with elevated AMH levels, because of PCOS combined with pituitary dysfunction, increased ovarian volume, or granulosa cell tumors (GCTs), are discussed. Conclusions: The presented rare cases of increased AMH emphasize the important role of AMH as a diagnostic marker in women with hypogonadotropic hypogonadism and granulosa cell tumors. On the other hand, it is still unknown if increased AMH produced by unusually enlarged or supernumerary ovaries should be considered as actual PCOS cases or as a specific subgroup. Additionally, the unusual case of GCTs with pronounced AMH and LH increase but normal steroids supports the pathophysiological role of AMH for the development of neuroendocrine dysfunction. Moreover, it suggests that GCTs should be considered in the differential diagnosis of chronic anovulation even in women with normal ovarian steroid production in case of unusually high AMH levels for the age. Further studies are needed to explain PCOS heterogeneity and to ensure proper differential diagnosis for every affected woman. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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27 pages, 2096 KB  
Case Report
Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research
by Xuan Trang Thi Pham, Phuc Nhon Nguyen and Xuan Song Hoang
Diagnostics 2025, 15(13), 1606; https://doi.org/10.3390/diagnostics15131606 - 25 Jun 2025
Cited by 1 | Viewed by 2172
Abstract
Introduction: Fraser syndrome (FS) is a rare autosomal recessive disorder. However, the clinical presentation remains variable. Diagnosis is based on a series of major and minor clinical criteria that can be supported by genetic tests. Prenatal diagnosis remains challenging. Methods: Herein, [...] Read more.
Introduction: Fraser syndrome (FS) is a rare autosomal recessive disorder. However, the clinical presentation remains variable. Diagnosis is based on a series of major and minor clinical criteria that can be supported by genetic tests. Prenatal diagnosis remains challenging. Methods: Herein, we reported a case of Fraser syndrome that was missed by ultrasound and diagnosed late at birth. The newborn presented with cryptophthalmos–syndactyly syndrome and absence of the right kidney. Based on a literature review of articles from the past 20 years, the authors found 40 cases, including indexed cases on PUBMED, Scopus, Web of Science, and Scholar using keywords related to “Fraser syndrome”. Through this report, we discuss the polymalformative syndrome, the clinical and paraclinical aspects of this syndrome, its clinical management, and highlight the importance of prenatal diagnosis in the light of research. Results: Our study found that consanguine parents (41.0%) were increasing risk factors for FS and poor socio-economic status delayed the early detection of FS. Among the 40 cases, 27 cases were detected postnatally. More than half of the cases resulted in poor perinatal outcomes. The common findings were cryptophthalmos (87.5%), syndactyly (87.5%), renal abnormalities (55.5%), and genital abnormalities (42.5%). Conclusions: A prenatal diagnosis of Fraser syndrome is still difficult. Thus, a counseled ultrasound scan at a specialized center should be recommended in suspected cases with indirect signs and risk factors of consanguinity. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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