Introduction: Subclinical hypothyroidism (SH), or hyperthyrotropinemia, is an asymptomatic condition defined by elevated serum thyroid-stimulating hormone (TSH) levels and normal free thyroxine (FT4) levels. It can be detected in newborns or children, but there is no consensus regarding treatment criteria since FT4 levels often remain normal. [MOU1.1] Materials and methods: We included 116 participants, including infants and children up to 3 years old with subclinical hypothyroidism, born to mothers with autoimmune thyroiditis and those with Down Syndrome. Kaplan-Meier survival analysis determined the median time for TSH normalisation. Cox Proportional Hazards Re-gression was used to explore associated prognostic factors. Results: During the study, 98% of the 116 patients with subclinical hypothyroidism experienced normalisation of their TSH levels, with a median time of 4.0 weeks. Patients who were born term at birth, appropriate for gestational age (AGA), and birth weight of ≥2.5 kg; median (95 % CI):[4 (3.3,4.6)],[4 (3.3,4.6)] [4 (3.3,4.6)] and had a median time of TSH normalisation earlier compared to patients who were born preterm; [12 (0.0,27.1)], small for gestational age (SGA); [8 (4.7,11.2)] and birth weight of < 2.5kg; [8 (1.1,14.8)]. Preterm gestation was identified as a significant predictor for TSH level normalisation with an adjusted HR(95%CI): 0.389(0.2, 0.75), (p=0.005) from multiple Cox regression analysis. [MOU2.1]Conclusion: This study shows that premature patients have a 61.1% lower chance of reaching normal TSH levels, underscoring the signifi-cant challenges they encounter in achieving hormonal balance.

Immunoglobulin G4 (IgG4)-related sclerosing cholangitis (IgG4-SC) is a rare condition with symptoms often mimicking malignancy, infection, or other autoimmune diseases. This case report describes the unique case of a 62-year-old male initially diagnosed with IgG4-SC, followed by subsequent diagnosis of cholangiocarcinoma. Biliary tract cancer in the setting of IgG4 related disease has been previously described; however, this patient course is novel as it encompasses the spectrum of challenges in IgG4-SC management, including diagnostic uncertainty, risk of infection with immunosuppressive agents, and development of malignancy diagnosed shortly following IgG4-SC diagnosis. We review the literature of management, outcomes, and malignancy risk and furthermore, highlight a promising recent therapy in treatment of IgG4 related disease, inebilizumab.

Objective: Parkinson’s disease (PD) affects approximately 2% of individuals over the age of 60. With more than two billion Muslims observing Ramadan, individuals with PD encounter specific challenges, such as deteriorating motor skills, sleep disturbances, and an increased risk of falls during fasting. Methods: Our study focused on 75 patients with idiopathic PD divided into two groups: the Ramadan Regime group, which consisted of 50 patients whose medication was adjusted to twice daily at Suhoor and Iftar, and the Nontreatment group, which included 25 patients who abstained from medication for religious reasons. Both groups were instructed to wear a Parkinson’s KinetiGraph (PKG) wrist device. Results: The study findings revealed that motor function worsened in the Nontreatment group (p<0.001) but improved in the Ramadan Regime group (p=0.007). Daytime sleepiness also significantly increased in the Nontreatment group (p<0.001). Conclusion Overall, the findings suggest that the Ramadan regime significantly enhances patient health and quality of life.

Cost-Effectiveness of Mobile Application Use in Managing Type 2 Diabetes Mellitus: A Systematic Review Introduction Type 2 diabetes mellitus (T2DM) is a debilitating condition that imposes a significant economic burden on its management. This study aims to systematically review the published evidence on the cost-effectiveness of mobile health (mHealth) application interventions for T2DM. Methods A search strategy was conducted using electronic bibliographic databases, including PubMed, Web of Science and Scopus for published studies. The inclusion criteria included original articles that reporting cost-effectiveness evaluation studies on mHealth application interventions directed at patients diagnosed or at risk of T2DM, English-language articles and published in the year 2016 to 2020. Results A total of 6 eligible studies were selected. The cost savings per person for treating T2DM ranged from USD 1,346 to USD 3,781 per year. The major contributor to cost savings was reduced complication management resulting from good glycaemic control. The direct impacts of the intervention include reduced hospitalisation and fewer unplanned clinic visits, while diabetes- related mortality was indirectly reduced usingmHealth. Conclusions The mHealth intervention was cost-effective in managing patients with T2DM. Implementation can be extended to other disease management areas to not only reduce total healthcare expenditure but also improve patients’ quality of life.

Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours commonly found in the gastrointestinal tract, particularly in the stomach, but they can mimic gynaecological tumours. We report the case of a 56 -year-old postmenopausal woman who presented with a right adnexal pelvic mass. Computed tomography (CT) revealed a large, lobulated pelvic mass with liver lesions. Pan - endoscopy showed normal findings, and her tumour markers were within normal limits. Based on these findings, the gynaecological oncology team proceeded with a laparotomy and tumour debulking, diagnosing the pelvic mass as likely ovarian in origin. Intraoperatively, the mass was found to originate from the stomach and extend posteriorly to the transverse colon. An en -bloc resection with primary anastomosis was performed and histopathology confirmed a high -risk GIST. The patient made a good post -operative recovery and was scheduled for adjuvant chemotherapy at her follow -up visit. This case highlights the importance of considering GIST as a differential diagnosis in postmenopausal women presenting with an abdominopelvic mass that may mimic an ovarian tumour

Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours commonly found in the gastrointestinal tract, particularly in the stomach, but they can mimic gynaecological tumours. We report the case of a 56 -year-old postmenopausal woman who presented with a right adnexal pelvic mass. Computed tomography (CT) revealed a large, lobulated pelvic mass with liver lesions. Pan - endoscopy showed normal findings, and her tumour markers were within normal limits. Based on these findings, the gynaecological oncology team proceeded with a laparotomy and tumour debulking, diagnosing the pelvic mass as likely ovarian in origin. Intraoperatively, the mass was found to originate from the stomach and extend posteriorly to the transverse colon. An en -bloc resection with primary anastomosis was performed and histopathology confirmed a high -risk GIST. The patient made a good post -operative recovery and was scheduled for adjuvant chemotherapy at her follow -up visit. This case highlights the importance of considering GIST as a differential diagnosis in postmenopausal women presenting with an abdominopelvic mass that may mimic an ovarian tumour

Introduction: Children with Down syndrome (DS) have a higher prevalence of hypothyroidism compared to the general population, and both conditions are linked to impaired growth. This study aimed to determine the prevalence and subtypes of hypothyroidism in DS and to compare growth outcomes with controls from general population at 2 years of age. Methodology: A retrospective review was conducted on 248 children with DS (aged 2–18 years) followed at Hospital Pakar Universiti Sains Malaysia from 2020 to 2025. Growth outcomes were analyzed in a subgroup of 41 DS children with hypothyroidism compared to 46 controls. Growth was compared using standard CDC charts for and z -scores calculated with PediTools (CDC 2–20 age). Mid-parental height, target height attainment, and height velocity were evaluated. Statistical analysis used t-tests and chi-square tests (p <0.05). Results: Of the 248 children with DS, 63.7% had hypothyroidism, predominantly subclinical (85.4%). No cases of acquired or secondary hypothyroidism were found. Children with DS had significantly lower mean height z-scores (−1.91 ± 1.45 vs. −0.54 ± 1.25; p <0.001), borderline lower height velocity (5.80 ± 2.15 vs. 6.92 ± 3.56 cm/year; p = 0.050), and fewer achieved target height (35% vs. 64.1%; p = 0.030) compared to controls. Baseline characteristics were similar between groups. Thyroid ultrasound showed normal anatomy in 50%, hypoplasia in 28.6%, and nodules in 21.4%. Common comorbidities included congenital heart disease (78.4%), pulmonary complications (16.2%), and other anomalies (32.4%). Conclusion Subclinical hypothyroidism was the predominant subtype in DS. Affected children demonstrated poorer growth, with reduced height z-scores, slower growth velocity, and lower likelihood of achieving target height.
Humans ; Down Syndrome ; Prevalence ; Hypothyroidism

Introduction: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes typically affecting young adults. There are 14 different genes that lead to pancreatic cell dysfunction causing MODY. Occurrence of MODY12 by ATP binding cassette subfamily C member 8 (ABCC8) gene is rare, comprising 1% of all the MODY subtypes. Case: A 13-year-old male was incidentally found to be hyperglycemic during medical examination. He denied any hyperosmolar symptoms, polyphagia, nocturia and recurrent skin infection. He did not have any history of neonatal diabetes mellitus. His father had been diagnosed with type 1 diabetes mellitus at the age of 22 years old. On examination, he is thinly built with no goiter or acanthosis nigricans. HbA1c was 8.8%. His insulin antibodies were negative. Whole exome sequencing revealed a heterozygous missense mutation in ABCC8 gene (c.2209G>A; p.Val737Ile), where there was a single nucleotide mutation of Valine to Isoleucine at the position 737 of the ABCC8 gene. This variant was reported in the ClinVar database as having uncertain significance. Considering the patient’s clinical features, this mutation is responsible for the disease. He was initially treated with sulfonylurea, namely glibenclamide; however, his continuous glucose monitoring was not optimized and required change to insulin therapy. Conclusion This case explores the phenotypic spectrum of ABCC8- related MODY, showing that this mutation can present without neonatal diabetes and emphasizing the requirement of insulin as part of treatment. Genetic testing should be conducted in patients presenting with atypical clinical features of diabetes mellitus to initiate personalized treatment strategies.
Mason-Type Diabetes

Introduction: Bardet-Biedl Syndrome is a rare autosomal recessive disorder characterized by multisystem manifestations, such as early-onset obesity, hypogonadotropic hypogonadism, retinal dystrophy, polydactyly, renal anomalies and intellectual disability. Phenotypic variability makes diagnosis challenging. Central obesity and hypogonadotropic hypogonadism are frequently observed, but often overlooked. Case: We report a 12-year-old male who was referred at the age of 10 years for evaluation of central obesity and buried penis. He was born at term with birth weight of 3,200 g. Both parents were non-consanguineous, and antenatal history was unremarkable. Early-onset excessive weight gain was noted from infancy, with hyperphagia during early childhood. His weight remained persistently above the 95th centile, and height around the 90th centile, slightly exceeding midparental height expectations. Buried penis was identified at birth. Polydactyly is absent. He also demonstrates learning difficulties. Early diagnostic considerations include Klinefelter syndrome due to buried penis, and PraderWilli Syndrome due to central obesity with co-existence of learning difficulties. Further evaluation excluded PraderWilli Syndrome, and conventional karyotyping ruled out Klinefelter syndrome. Clinical assessment revealed prepubertal Tanner stage, bilaterally palpable testes (3 mL), and a stretched penile length <2 cm. Endocrine evaluation demonstrated a prepubertal response to LHRH stimulation, and poor testosterone response to hCG, suggesting hypogonadotropic hypogonadism with poor Leydig cell function. Whole exome sequencing confirmed a BBS2 gene mutation, establishing the diagnosis of Bardet-Biedl Syndrome. This mutation disrupts hypothalamic signaling, leading to the multisystem involvement observed. Over the follow-up period, he reported difficulty with night vision. Conclusion Not all syndromic obesity is immediately apparent— Bardet-Biedl Syndrome should be considered even in the absence of classical features. Marked phenotypic variability often leads to delayed diagnosis, highlighting the need for vigilant clinical suspicion and prompt genetic study to ensure timely recognition. Early recognition is critical, as endocrine and other associated complications can significantly impact long-term health.
Bardet-Biedl Syndrome ; Obesity