Introduction: Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder that significantly affects adolescent girls, particularly those with overweight or obesity. However, data examining the determinants and metabolic profiles of PCOS among adolescents with overweight and obesity remain limited, especially in Malaysia. This protocol describes a case-control study investigating the cardiometabolic, dietary, and psychosocial determinants of PCOS among adolescents with overweight and obesity. Methodology: This study is designed as a case-control study involving adolescent girls aged 13–16 years with a body mass index z-score >+1 standard deviation. Cases are defined as adolescent girls with a confirmed diagnosis of PCOS based on the recommendations of the 2017 International Consortium of Paediatric Endocrinology (ICPE), while controls are those who do not meet the diagnostic criteria for PCOS. A total sample size of 440 participants is required. Participants will be recruited from 22 secondary schools selected from a list of schools in Kuala Lumpur. Data on sociodemographic characteristics, psychosocial health, physical activity, and dietary intake will be collected using structured questionnaires. Blood samples will be obtained and analyzed for diagnostic testing (free testosterone), exclusion tests (thyroid-stimulating hormone, folliclestimulating hormone, luteinizing hormone, estradiol, prolactin, and dehydroepiandrosterone sulfate), and biochemical parameters (liver function tests, lipid profile, hemoglobin A1c, fasting glucose, fasting insulin, and inflammatory markers). Results: The study is expected to generate comprehensive data on the cardiometabolic, dietary, and psychosocial determinants of PCOS among adolescents with overweight and obesity. The findings will inform early screening strategies and targeted interventions aimed at reducing long-term reproductive and cardiometabolic complications. Conclusion This protocol outlines a structured approach to investigating PCOS in adolescence and addresses current gaps in early identification and risk stratification among highrisk populations.
Adolescent ; Humans ; Case-Control Studies ; Overweight ; Polycystic Ovary Syndrome ; Obesity

Introduction: Central precocious puberty (CPP) is defined as the early occurrence of puberty before the age of 8 years in girls and 9 years in boys. CPP has many implications for the patient’s physical, emotional, and psychological aspects. The most soughtafter benefit of the treatment is the preservation of the growth potential of final adult height. This study aims to evaluate the predicted and final adult height in girls with CPP who received treatment in the University Malaya Medical Centre (UMMC), Malaysia. Methodology: In this retrospective longitudinal study, 32 CPP patients who received treatment with GnRH analogs in UMMC between 2010 and 2025 were identified. The demographic and clinical data of the patients were retrieved from the medical record system and analyzed. Results: The study revealed that predicted adult height (PAH) by using bone age closely approximated the actual final adult height (FAH) with no significant difference observed (p = 0.793), and a strong positive correlation (r = 0.75, p <0.001). The predicted height based on the genetic potential of mid-parental target height (MPTH) showed a significant underestimation of FAH (mean difference = -1.89 cm, p <0.01), although it remained a robust predictor (r = 0.75, p <0.01). Across age groups, the correlation between PAH and FAH was strongest in girls aged 6–8 years old. Notably, girls treated before age 6 exhibited a significant height gain compared to initial prediction values, underscoring the importance of early intervention. Conclusion From this study, we concluded that the FAH outcome in girls with CPP who received treatment with GnRH analogs is preserved, similar to the PAH calculated by bone age. However, the FAH is significantly lower than the MPTH (genetic potential). The baseline height SDS appears to be a strong predictor of FAH. The bone age value is the strongest predictor of FAH. The preservation of adult height potential is more prominent when subjects developed CPP before 6 years and were treated immediately.
Adult ; Female ; Puberty, Precocious ; Gonadotropin-Releasing Hormone ; World Health Organization

Introduction: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, characterized by chronic hypophosphatemia and renal phosphate wasting, resulting in skeletal, dental, and extra-skeletal complications. To date, no data from Malaysia are currently available on clinical characteristics or health-related quality of life (HRQoL) in paediatric patients. Methodology: This cross-sectional study evaluated HRQoL among children and adolescents with XLH, using validated PROMIS (PatientReported Outcomes Measurement Information System) instruments, sociodemographic and clinical factors associated with HRQoL. This includes children and adolescents with confirmed XLH followed up at Universiti Malaya Medical Centre (UMMC) between November 2024 and March 2025. Results: Seventeen patients were analyzed (76.5% female and 23.5% male). The mean age at symptom onset was 2.82 ± 2.42 years, with a mean age at diagnosis of 5.21 ± 3.29 years. All patients continued to have musculoskeletal complications, including short stature (76.5%), bowing of legs (76.5%), bone/joint pain (47.1%), muscle pain (47.1%), and dental complications (52.9%). Serum alkaline phosphatase improved significantly (p = 0.011); persistent hypophosphatemia and ongoing musculoskeletal manifestations indicated suboptimal disease control. Elevated parathyroid hormone levels and an increase in urine calciumto-creatinine ratio (p = 0.020) lead to secondary hyperparathyroidism and nephrocalcinosis. Adherence to conventional therapy was poor. Non-adherence was associated with worse pain outcomes (higher pain interference [p = 0.037] and greater pain intensity [p = 0.025]). PROMIS scores revealed severely impaired mobility (mean T-score 31.31 ± 12.17), increased fatigue (mean T-score 54.22 ± 7.60), and high pain interference (mean T-score 63.11 ± 9.50). Larger household size was also strongly associated with higher pain intensity (p = 0.004). Conclusion Malaysian children and adolescents with XLH continue to have significantly poor HRQoL, particularly in mobility, fatigue, and pain. These findings highlight the need for access to targeted therapies, such as burosumab, to improve long-term outcomes and QOL in XLH patients.
Adolescent ; Child ; Familial Hypophosphatemic Rickets ; Malaysia ; Quality of Life

Introduction: Childhood obesity is associated with significant metabolic morbidity, particularly insulin resistance (IR) and metabolic syndrome. Acanthosis nigricans (AN) is frequently observed in children with obesity and may represent a practical clinical marker of IR. This study evaluated the association between AN, IR, and metabolic complications in paediatric obesity. Methodology: A retrospective review was performed of 148 children (88 males, 60 females; median age 12 years) attending the Paediatric Obesity Clinic at Universiti Malaya Medical Centre. Data included anthropometry, AN grading, family history, HOMA-IR, and metabolic screening. Outcomes assessed were dyslipidemia, metabolic-associated fatty liver disease (MAFLD), hypertension, obstructive sleep apnea syndrome (OSAS), and glucose dysregulation. Comparisons were made between children with and without AN at baseline and over follow-up (median 2.4 years). Results: AN was present in 81.8% of patients, and 82.4% had central obesity. Increasing AN grade was significantly associated with higher BMI SDS and American Academy of Paediatrics obesity class (p <0.05). AN was more prevalent among Malay and Indian children and was associated with a family history of obesity (p <0.05). Baseline metabolic abnormalities were common, including dyslipidemia (high triglycerides 31.8%, low HDL 30.4%, high LDL 29.7%), MAFLD (23.6%), OSAS (31.1%), and glucose dysregulation (27.7%), with no significant difference between groups. During follow-up, children with AN and more severe obesity developed significantly more metabolic complications, particularly MAFLD and OSAS, with increased requirement for non-invasive ventilation (p <0.05). Higher HOMA-IR was associated with glucose dysregulation but was not independently associated with AN. Conclusion AN is strongly associated with greater adiposity and predicts the progression of metabolic complications in children with obesity. Routine assessment of AN may help identify high-risk patients who would benefit from early, intensive intervention to reduce long-term cardiometabolic morbidity
Child ; Acanthosis Nigricans ; Biomarkers ; Obesity

BACKGROUND

The recent COVID-19 pandemic has led to a rise in the incidence of obesity both in children and adults. Studies on the effect of the pandemic on Type 2 diabetes mellitus (T2DM) trends in children are limited. In this study, we aim to evaluate the frequency, clinical characteristics and demographics of newly-diagnosed paediatric T2DM cases 4 years before and after the pandemic.

The frequency and clinical data of patients aged ≤18 years with newly-diagnosed T2DM in 4 tertiary centers in urban Malaysia from 18 March 2016 till 17 March 2020 (pre-pandemic) and 18 March 2020 till 17 March 2024 (postpandemic) was collected.

Seventy-five (75) patients were recorded with newly-diagnosed T2DM pre-pandemic and fifty-four (54) patients were recorded with newly-diagnosed T2DM post-pandemic. There was no significant increase in T2DM cases and diabetic ketoacidosis (DKA) during pandemic and T2DM cases fell to below pre-pandemic levels in the 3rd and 4th year postpandemic. HbA1c and serum glucose were lower post-pandemic than pre-pandemic: 10.1% vs 11.9%, p = 0.008 and 12.0 mmol/L vs 16.1 mmol/L, p = 0.038 respectively.

The incidence of T2DM and DKA did not increase during the pandemic and further declined in year 3 and 4 post-pandemic. Lower HbA1c and serum glucose in the post-pandemic group may suggest improved screening services and greater access to medical care.

Introduction: Adequate daily intake of fruits and vegetables is crucial for the prevention of chronic diseases. This study aimed to determine the effects of My Body is Fit and Fabulous at School (MyBFF@school) with nutrition education intervention (NEI) on the stages of change for fruit and vegetable intake among overweight and obese secondary school children based on the trans-theoretical model (TTM). Methods: This was a cluster randomised controlled trial involving 15 out of 415 eligible government secondary schools in central Peninsular Malaysia, which were randomly assigned into intervention (six schools; 579 school children) and control (nine schools; 462 school children). The intervention group was given NEI for 24 weeks, while the control group followed the existing school programme by the Ministry of Education. Results: There was no significant difference between the intervention and control groups for the stages of change, with majority at the maintenance stage after six months (intervention: 34.9%; control: 39.0%). The within group analysis showed a significant reduction after six months for those at the action stage (action and maintenance stage) from 68.0% to 60.4% in the intervention group and from 71.4% to 65.6% in the control group. However, there was a significant increase among those with adequate fruit and vegetable intake in the intervention group and no significant increase in the control group. Conclusion: MyBFF@school with NEI based on TTM provided acceptable changes in fruit and vegetable intake among overweight and obese secondary school children.

Stunting is a common phenomenon in Malaysian children. Optimising outcomes for children with growth disorders rests on early recognition and prompt referral. In this context, a framework for the clinical approach can help to guide appropriate growth assessment and referral. This review article aims to provide family medicine specialists with such a framework whilst raising awareness about the shortcomings of the existing growth monitoring system in Malaysia. It also invites readers to consider additional measures that could further optimise this system.

Introduction: The causes of congenital hypothyroidism (CHT) are thyroid dysgenesis (TD), dyshormonogenesis (TDH) or transient hypothyroidism (TH). Methodology: This is a cross-sectional study looking at data over a period of 16 years (2000-2016). Confirmed cases had thyroid scan at the age of 3-years-old and repeated TFT (after 6 weeks off medications). Relevant data was collected retrospectively. Results: Forty (60% female) children with CHT were included in the study. Thirty (75%) children presented with high cord TSH. Nine (23%) presented after 2 weeks of life. Majority were diagnosed with TDH (42.5%) with TD and TH of 40% and 17.5% respectively. Median cord TSH of children with TD was significantly higher compared to TDH and TH (p=0.028 and p=0.001 respectively). L-thyroxine doses were not significantly different between TD, TDH and TH at diagnosis or at 3 years. Conclusions TDH is highly prevalent in our population. TD may present after 2 weeks of life. One in five children treated for CHT had TH. Differentiating TD, TDH and TH before initiating treatment remains a challenge in Malaysia. This study provides clinicians practical information needed to understand the possible aetiologies from a patient’s clinical presentation, biochemical markers and treatment regime. Reassessing TH cases may be warranted to prevent unnecessary treatment.
Thyroid Dysgenesis ; Thyroxine

INTRODUCTION: Endocrine dysfunction due to iron overload secondary to frequent blood transfusions is a common complication in children with transfusion-dependent thalassaemia (TDT). We ascertained the prevalence of endocrine dysfunction in children with TDT seen in a hospital setting in Malaysia. METHODS: We reviewed all patients with TDT who had ≥ 8 blood transfusions per year. Patients who had a history of stem cell transplantation, concurrent autoimmune diseases or were newly diagnosed to have TDT were excluded. Standard diagnostic criteria were used in the diagnosis of various endocrine dysfunctions. RESULTS: Of the 82 patients with TDT, 65% had at least one endocrine dysfunction. Short stature was the commonest (40.2%), followed by pubertal disorders (14.6%), hypoparathyroidism (12.3%), vitamin D deficiency (10.1%), hypocortisolism (7.3%), diabetes mellitus (5.2%) and overt hypothyroidism (4.9%). Subclinical hypothyroidism and pre-diabetes mellitus were seen in 13.4% and 8.6% of the patients, respectively. For children aged < 10 years, the prevalence of both thyroid dysfunction and hypoparathyroidism was 9.1%. CONCLUSION Two-thirds of children with TDT experienced at least one endocrine dysfunction. Thyroid dysfunction and hypoparathyroidism may be missed if endocrine screening is only performed in children with TDT > 10 years of age. Close monitoring for endocrine dysfunction and hormonal therapy is essential to prevent long-term adverse outcomes.