Comparative analysis of an automated bone age tool with manual assessment in a multiethnic Southeast Asian paediatric cohort in Singapore.

Background: Bone age assessment is essential for evaluating growth and pubertal disorders, but manual methods such as the Greulich-Pyle atlas are subject to inter-observer variability. Automated tools like BoneXpert may improve accuracy and consistency.

Objective: To validate the accuracy and reliability of BoneXpert, an automated bone age assessment tool, compared to traditional manual methods performed by paediatric endocrinologists and radiologists in a multiethnic paediatric cohort in Singapore.

Vitamin D Deficiency and Clinical Outcomes in Critically Ill Pediatric Patients: A Systematic Review and Meta-Analysis.

Context: Vitamin D deficiency (VDD) is common in paediatric populations, and its relationship with critical care outcomes warrants further investigation.

Objective: The aim is to examine the association between VDD and clinical outcomes in children admitted to the Pediatric Intensive Care Unit (PICU).

Methods: This systematic review and meta-analysis investigated the impact of VDD on clinical outcomes in PICU patients.

An Asian monogenic diabetes registry: prevalence, long-term renal trajectory and development of a diagnostic algorithm for selection of candidates for genetic testing.

Introduction: Through the National Healthcare Group-Khoo Teck Puat Hospital Monogenic Diabetes Registry, we aimed to determine the prevalence and spectrum of maturity-onset diabetes of the young (MODY), describe the long-term renal trajectory of major MODY subtypes, and develop a diagnostic algorithm based on a combination of clinical parameters and biomarkers to refine selection of candidates for genetic testing.

Methods: A total of 373 study participants attending secondary care diabetes centres in Singapore were referred for genetic testing. Key inclusion criteria for genetic testing included onset age ≤35 years, body mass index <32.

A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.

Maturity-onset diabetes of the young (MODY) represents 1% to 5% of patients with diabetes mellitus (DM), and numerous genes associated with MODY have been identified. While mutations of the insulin gene () are known to cause permanent neonatal DM, rare disease-causing variants have also been found in MODY. These patients demonstrate variable clinical phenotypes-from milder forms requiring lifestyle or oral agent interventions to severe forms requiring lifelong insulin.

Early Puberty Trend during the COVID-19 Pandemic in Singapore: A Retrospective Review in a Single Tertiary Centre.

Objectives: We aimed to study the trend of referrals for precocious puberty during the COVID-19 pandemic compared to pre-COVID years, explore the differences in the demographic and clinical features, and evaluate the contributing factors.

Methodology: The cases referred for assessment of PP from 2018-2021 to our endocrine centre were grouped into pre-COVID (2018-2019) and COVID (2020-2021) years. Cases fulfilling the diagnosis of PP included the onset of thelarche <8 years in females and 4 ml testicular volume <9 years in males.

Prevalence and risk factors associated with low bone mineral density in Asian adolescents with anorexia nervosa and atypical anorexia nervosa.

Objective: This retrospective study aimed to evaluate the prevalence and risk factors for low bone mineral density (BMD) at diagnosis in Asian adolescent females with anorexia nervosa (AN) and atypical AN.

Method: We analyzed the BMD results for 213 patients between 10 and 18 years of age, with AN and atypical AN receiving care at a pediatric hospital in Singapore. We used linear regression analyses to determine if type of eating disorder, premorbid weight, and duration of amenorrhea were risk factors for low BMD.

Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life.

Paediatric Obesity Evaluation for Metabolic Susceptibility (POEMS).

Introduction: Our aim was to determine whether there are risk factors which increase the risk of developing dysglycemia in a child who has increased body mass index (BMI) (overweight/obese).

Research Design And Methods: This was a retrospective cohort study of 715 children who had increased BMI (overweight/obese). They presented to tertiary care at KK Women's and Children's Hospital, Singapore, for metabolic risk assessment.

Patent ductus arteriosus in a late preterm neonate: think congenital hypopituitarism.

A late preterm female neonate presented with initial respiratory distress and heart murmur attributed to a haemodynamically significant patent ductus arteriosus (hsPDA) not responding to two courses of ibuprofen. Thyroid function performed for prolonged neonatal jaundice at 3 weeks of life suggested central hypothyroidism. Subsequent adrenocorticotropic hormone stimulation test showing hypocortisolism and MRI revealing adenohypophysis hypoplasia confirmed the diagnosis of congenital hypopituitarism (CH).

MIRAGE Syndrome Caused by a c.3406G>C (p. Glu1136Gln) Mutation in the Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Introduction: Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and multisystem involvement.

Evaluation of risk factors associated with fragility fractures and recommendations to optimise bone health in children with long-term neurological condition.

Introduction: The growing years are paramount for bone growth and mineral accrual. Children with long-term neurological condition (LTNC) have multiple risk factors for poor bone health and fragility fractures. In Singapore, this has not been studied systematically.

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation.

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1 and COL1A2, variants in noncollagen genes have been identified in the remaining cases. The recurring heterozygous variant in IFITM5 (c.

Ultrasound-guided measurement of skin and subcutaneous tissue thickness in children with diabetes and recommendations for giving insulin injections.

Aim: To measure skin thickness (ST) and skin + subcutaneous layer thickness (SCT) by ultrasound and estimate the risk of intramuscular injection (IM) with different needle lengths across injection sites according to age group.

Method: Children recruited between 1 and 18 years with type 1 and 2 diabetes on insulin injections and divided into three age groups: 1-6 years, 7-12 years and 13-18 years. A portable ultrasound was used to measure ST and SCT at four injection sites on the abdomen, arm, thigh and buttock.

Primary osteoporosis in children.

Osteoporosis in childhood is uncommon, and it may be secondary to a spectrum of diverse conditions. Idiopathic juvenile osteoporosis is a primary osteoporosis of unknown aetiology present in previously well children and is a diagnosis of exclusion. We describe a 10-year-old prepubertal boy who presented with back pain of 1-week duration.

Recurrent Proximal Femur Fractures in a Teenager With Osteogenesis Imperfecta on Continuous Bisphosphonate Therapy: Are We Overtreating?

Long-term bisphosphonate (BP) therapy in adults with osteoporosis is associated with atypical femoral fractures, caused by increased material bone density and prolonged suppression of bone remodeling which may reduce fracture toughness. In children with osteogenesis imperfecta (OI), long-term intravenous BP therapy improves bone structure and mass without further increasing the already hypermineralized bone matrix, and is generally regarded as safe. Here we report a teenage girl with OI type IV, who was started on cyclical intravenous pamidronate therapy at age 6 years because of recurrent fractures.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

Background: Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions.

Patient Description: A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation.

Neonatal Diabetes in a Singapore Children's Hospital: Molecular Diagnoses of Four Cases.

Introduction: Neonatal diabetes (ND) presents below 6 months of age, and is caused by a genetic defect in glucose homeostasis. Molecular genetic diagnosis can identify the exact molecular aetiology and guide clinical management. The objective of this study was to identify ND among children with diabetes in a major children's hospital in Singapore and to characterise their molecular and clinical features.

Quantifying the risk of hypoglycaemia in children undergoing the glucagon stimulation test.

Objective: The low-dose (15-30 μg/kg) glucagon stimulation test (GST) is assumed to be associated with fewer episodes of low blood glucose (BG). We aimed to quantify the risk of hypoglycaemia in children undergoing the low-dose GST to evaluate their growth hormone status.

Design And Patients: Blood glucose fluctuations during the GST in 80 children (median age 8·7 years, 45 boys, 66 prepubertal) who received a median 20·5 μg/kg of intramuscular glucagon were reviewed.