Delayed puberty and anosmia in CHARGE Syndrome: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.

Growth Assessment and Monitoring during Childhood

Growth is an indicator of the health and nutritional status of infants and children. Health organisations and professionals worldwide advocate monitoring the growth of children with the primary aim of identifying and preventing malnutrition and/or obesity. Growth monitoring should be part of every health care consultation for children. However, physicians during health care consultations are often so busy addressing acute health issues, that they miss the opportunity to monitor the child's growth and provide anticipatory guidance. Appropriate growth monitoring would enable health care providers to detect abnormal growth in a timely manner, as well as to reassure parents if their concerns are unfounded. To perform this effectively, physicians need to be familiar with measurement methods, use of appropriate growth charts and interpretation of results. As weight, height and growth rates may vary among children, physicians also need to understand what constitutes normal growth. This paper aims to clarify the purpose of growth monitoring and provide recommendations for physicians to assess, monitor and manage growth in infants and children in a primary care setting.

Myopia in young patients with type 1 diabetes mellitus

<p><b>INTRODUCTION</b>This study aimed to evaluate the proportion of young patients with type 1 diabetes mellitus (T1DM) who have myopia, as well as the risk factors associated with myopia in this group.</p><p><b>METHODS</b>In this cross-sectional study, patients aged < 21 years with T1DM for ≥ 1 year underwent a comprehensive eye examination. Presence of parental myopia, and average hours of near-work and outdoor activity were estimated using a questionnaire. Annualised glycosylated haemoglobin (HbA1c), defined as the mean of the last three HbA1c readings taken over the last year, was calculated. Multivariate analysis using genetic, environmental and diabetes-related factors was done to evaluate risk factors associated with myopia.</p><p><b>RESULTS</b>Of the 146 patients (mean age 12.5 ± 3.6 years) recruited, 66.4% were Chinese and 57.5% were female. Myopia (i.e. spherical equivalent [SE] of -0.50 D or worse) was present in 96 (65.8%) patients. The proportion of patients with myopia increased from 25.0% and 53.6% in those aged < 7.0 years and 7.0-9.9 years, respectively, to 59.2% and 78.4% in those aged 10.0-11.9 years and ≥ 12.0 years, respectively. Higher levels of SE were associated with lower parental myopia (p = 0.024) and higher annualised HbA1c (p = 0.011).</p><p><b>CONCLUSION</b>Compared to the background population, the proportion of myopia in young patients with T1DM was higher in those aged < 10 years but similar in the older age group. Myopia was associated with a history of parental myopia. Environmental risk factors and poor glycaemic control were not related to higher myopia risk.</p>

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

<p><b>INTRODUCTION</b>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.</p><p><b>MATERIALS AND METHODS</b>The study identified all infants below 6 months of age who presented with diabetes to our centre from January 2008 to December 2010. It also reviewed diabetes database comprising 662 patients, to identify those who were diagnosed with diabetes below 6 months of age between January 1997 and December 2010. Four patients (3 females and 1 male) were identified and their molecular aetiology was investigated.</p><p><b>RESULTS</b>A molecular aetiology was found in each of the 4 patients identified. Two patients (Patient 1 and 2) had permanent ND (PND). Patient 1 who has KCNJ11/R201H mutation was successfully switched from insulin to oral glibenclamide and Patient 2 who has a novel mutation INS/C109Y continues to be treated with insulin. Two patients (Patient 3 and 4) had transient ND (TND) and no longer require insulin or any other intervention to maintain normoglycaemia. Patient 3 has a novel mutation ABCC8/F1182S and Patient 4 has a paternal duplication on chromosome 6q24.</p><p><b>CONCLUSION</b>This study identified 4 cases of ND in our cohort of diabetes children and confirmed their molecular diagnosis. Molecular genetic testing for these children led to accurate diagnosis and appropriate management.</p>