Background: There are limited treatment options for metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic Fatty Liver Disease (MASLD) in children and adolescents. Aim: To evaluate the effectiveness of the Mediterranean diet in improving liver function in children and adolescents with MASLD. Methods: In this systematic review and meta-analysis, we searched PubMed, Scopus, Embase, CINAHL, and Cochrane CENTRAL for interventional studies investigating the effect of Mediterranean diet on MASLD in children and adolescents. The primary outcome was a change in liver function measured using these liver enzymes; Alanine Transaminase (ALT), Aspartate Transaminase (AST) and Gamma-glutamyl transferase (GGT). The secondary outcomes were lipid profile, body weight, and insulin resistance. The risk of bias was assessed using the MASTER scale. Bias-adjusted inverse variance heterogeneity models were used to synthesize overall weighted mean differences for the treatment effect (WMD) and their 95% confidence intervals. Heterogeneity and publication bias were evaluated using the I² statistics, Tau-squared and Doi plots, respectively. Result: Out of 5915 study records identified from database searches, five studies with 308 participants, two randomized controlled trials, and three quasi-experimental studies, met the inclusion criteria. In overall synthesis, the Mediterranean diet was associated with moderate improvements in liver function as shown by reductions in the liver enzymes [ALT - WMD − 10.85 U/L, 95% CI -20.03 to -1.68, I² = 42, T² = 38.8, AST - WMD − 9.26 U/L, 95% CI -17.14 to -1.38, I² = 70.7, T² = 42.7, and GGT - WMD − 1.99 95% CI -5.09 to 1.11)], but changes in body weight, lipid profile and insulin resistance were small and insignificant. Conclusion: The Mediterranean diet may improve liver function in children with MASLD. More randomized controlled trials are needed to develop high-certainty evidence on these findings. Registration: This protocol was registered on the International Prospective Register of Systematic Reviews (PROSPERO) CRD42023426939. 31/05/2023.

Hypospadias is a common congenital anomaly of the male genitalia that poses significant management and treatment challenges. Gaining a comprehensive understanding of priority research questions in hypospadiology will be essential to reach agreement on the optimal approach to assessment, treatment, and outcome prediction for affected patients. We employed a consensus-building Delphi method to identify and prioritize research questions in the hypospadias field. Additionally, we integrated questions sourced from the artificial intelligence platform ChatGPT to capture multiple perspectives. Engaging a diverse panel of experts including clinicians, researchers, and patient advocates from across the globe, the Delphi process aimed to distill collective expertise and insights through iterative rounds of structured questionnaires and feedback. The analysis identified key themes in hypospadias research, covering etiology, tissue engineering, pre-clinical models, device/technology evaluation, phenotyping, surgical techniques, surgical training and postoperative outcomes. These themes highlight crucial areas for future investigation to improve understanding of hypospadias, treatment options, and patient outcomes, thereby guiding both research and clinical practice. By harnessing the collective wisdom and perspectives of multiple stakeholders, this Delphi study establishes a roadmap for prioritizing research initiatives to effectively unravel the complexities of hypospadias. Integration of ChatGPT outputs into our Delphi-based approach also outlined how future studies can harness the collective wisdom of human experts together with artificial intelligence methods. The outcomes of this novel endeavor hold promise for shaping future research agendas, informing clinical practice guidelines, and fostering multidisciplinary collaborations to drive innovation and ultimately improve outcomes for hypospadias patients worldwide.

Background: Hypospadias is a common congenital condition in male infants, characterised by incomplete development of the underside of the penile shaft. Genetic factors play a major role in its development. Therefore, studying genetic contributions, especially in familial cases, can enhance our understanding of disease causes and guide targeted interventions. Materials and Methods: Through a structured biobank for hypospadias, we collected blood samples from individuals with familial hypospadias and their relatives. Whole-genome sequencing (WGS) was performed on 27 individuals across seven families to identify potential genetic causes. Bioinformatics analysis, including the GEMINI tool, was used to assess inheritance patterns of single-nucleotide variants (SNVs) within families and identify potential causative SNVs. Results: We identified three likely pathogenic variants in genes not previously associated with hypospadias in EIF2B5, INO80, and ACADVL genes, in three index patients. These variants co-segregated with the condition within the families. Additionally, we detected variants of uncertain significance in hypospadias-related gene families (DNAH12 and LHFP) and in other genes, such as COL6A3, which may cause the phenotype. No potential causative variants were found in two of the seven studied families, indicating the need for further analysis, including the assessment of copy number variants (CNVs). Functional studies will be crucial to establish the role of the identified variants in the development of hypospadias. Conclusions: This study underscores the importance of disease biobanking and genetic analysis in identifying potential underlying causes of congenital conditions, such as hypospadias. The identified variants provide new opportunities for functional research and may enhance our understanding of hypospadias pathophysiology. These findings broaden the genetic landscape of hypospadias and lay the groundwork for functional validation, improved risk assessment, and personalised medicine strategies.

Background/Objectives: Hypospadias, a common congenital anomaly in males, presents significant challenges in diagnosis, management, and long-term care. Despite its prevalence, research into the condition has been hampered by the lack of integrated biobank cohorts linking clinical, phenotypic, and surgical data with biological samples. This study aimed to establish the Hypospadias Biobank Cohort (HBC), a comprehensive resource designed to advance the understanding of hypospadias etiology and improve patient outcomes. Methods: The HBC was developed using a multi-phase approach, enrolling participants from specialized clinics between April 2022 and September 2024. Biological samples (blood and tissue) were collected under standardized protocols following informed consent. Detailed clinical data, including hypospadias severity, associated anomalies, and surgical outcomes, were systematically recorded and integrated into a robust database to support translational research. Results: The cohort included a diverse group of patients with varying severity of hypospadias, many of whom also presented with associated anomalies. Surgical outcomes were tracked, revealing important correlations between severity and postoperative complications. Preliminary biological analyses identified potential biomarkers associated with hypospadias severity and recovery. The full details of these results will be presented in a separate publication. The comprehensive database is continuously updated with longitudinal follow-up data, supporting future translational research. Conclusions: The Hypospadias Biobank Cohort represents a groundbreaking resource for translational research, offering unprecedented insights into the clinical and phenotypic spectrum of hypospadias. By enabling the refinement of classification systems and the development of evidence-based surgical techniques, the HBC has the potential to transform the management of this congenital condition. Ongoing research leveraging the HBC will further unravel the complex interplay among clinical presentation, surgical interventions, and patient outcomes, paving the way for personalized care strategies and improved long-term results.

Background: Hypothyroidism is one of the most common endocrine conditions during pregnancy and has been associated with poor obstetric and perinatal outcomes. There is still a lack of data from Middle Eastern populations, despite its clinical significance. This study aimed to evaluate thyroid management patterns during pregnancy and examine the association between thyroid function control and maternal and perinatal outcomes in women with hypothyroidism at a tertiary care center in Qatar. Methods: A retrospective cohort study including 379 pregnant women with hypothyroidism diagnosed between January 2019 and November 2022 was conducted at Sidra Medicine in Doha, Qatar. Based on trimester-specific Thyroid-stimulating hormone (TSH )reference values, participants were categorized as having adequately or inadequately controlled thyroid function. Data on obstetrics, biochemistry, and demographics were taken from electronic medical records (EMR). Statistical analyses were performed using chi-square tests for categorical variables and t-tests for continuous variables, with a significance threshold of p < 0.05. Results: Participants had a mean Body Mass Index (BMI) of 30.33 ± 6.14 kg/m² and an average age of 32.65 ± 4.99 years; 54% of them were Qataris. Of the patients, 58.5% had positive thyroid antibodies and 55.7% had pre-gestational hypothyroidism. Women with pre-gestational hypothyroidism required significantly higher levothyroxine doses compared with those with gestational hypothyroidism (93.2 ± 47.5 mcg/day vs. 67.6 ± 30.1 mcg/day; p < 0.001). Treatment adjustment was demonstrated by the improvement in TSH normalization from 51.3% in the first trimester to 64.2% in the third trimester (p = 0.041). No significant associations were observed with pre-eclampsia, preterm delivery, hypertension, or placental abruption. However, women with normal third-trimester TSH had a higher prevalence of gestational diabetes mellitus (GDM) compared with those with elevated TSH (51.6% vs. 36.8%; p = 0.013). Conclusions: Appropriate trimester-specific monitoring and timely levothyroxine titration was associated with improved biochemical control without adverse maternal outcomes. Greater levothyroxine requirements in women with pre-gestational hypothyroidism emphasize the importance of early intervention. These findings highlight the potential benefit of structured thyroid monitoring and multidisciplinary care approaches in pregnancy and may help inform future regional clinical practice guidelines.