Clinical Profile of Turner Syndrome: A Tertiary Center Experience

Background: Turner syndrome (TS) is the commonest chromosomal abnormality in females with an incidence of 25–50 per 100,000 females. Girls with TS universally have short stature (95%), along with gonadal failure (>90%) and infertility (99%); however, the ethnic differences are not well elaborated. Objectives: This study has been planned to evaluate the presentation and course of Indian girls with TS. Methods: Patients with TS presenting to our referral endocrinology clinic were included in this study. Diagnosis of TS was done by karyotyping. A retrospective chart review of these patients formed the basis of this study. Results: A total of 55 patients with TS karyotype were seen, and the mean age at diagnosis was 12.3 years. The commonest presenting features were short stature alone seen in 37 (65.45%) and short stature with delayed puberty in 18 (32.72%). The earliest age at presentation was 4.5 years who presented with short stature. The mean height was 124.17 cm and mean BMI 17.54 kg/m2. The most common karyotype was 45, XO found in 34 (61.6%) of the cases. 15 (27.27%) the cases were started on growth hormone therapy. 26 cases (47.27%) required pubertal induction. Conclusion: A vast number of cases with TS in India remain undiagnosed until puberty or present very late. A high degree of clinical suspicion can help us diagnose these children earlier. If TS is diagnosed earlier, growth can be achieved up to their maximum potential. Early identification and management will help us provide multidisciplinary care and hence prevent complications

Use of continuous glucose monitoring system in children with type 1 diabetes mellitus in a resource limited setting

Background: Regular self-monitoring of blood glucose (SMBG) remains the mainstay method for diabetes monitoring. The major limitation of SMBG is poor compliance and it only provides a snapshot of glucose values at that point of time. Continuous glucose monitors (CGMs) are non-invasive devices which measure subcutaneous interstitial glucose for every five minutes and provide glucose variability throughout the day. Aim and Objective: To assess the effectiveness of intermittent continuous blood glucose monitoring in comparison with SMBG on the percentage reduction in HbA1c level in children with type 1 diabetes mellitus (DM). Methods: Children diagnosed with type 1 DM of age group 3–18 years were enlisted into the study. Participants were randomised to the study arm (CGMs+SMBG) or the control arm (SMBG alone). Subjects in the study group were given CGM along with regular SMBG for 14 days. The control group was asked to perform SMBG. HbA1c levels were measured in both groups after three months of intervention. Results: There were 62 children in each group. After three months, in the intervention group HbA1c level dropped from 11.23% ± 1.53% (Mean ± SD) to 10.14% ± 1.99%, in control group HbA1c level dropped from 11.62% ± 1.62% to 11.32% ± 1.57%. The fall in HbA1c level in intervention group is significant (p value –0.01). Conclusion: In a resource-limited setting, intermittent use of CGMs atleast once every two to three months will help in understanding the factors influencing glucose variation throughout the day and, with appropriate therapeutic modifications, will aid in achieving optimal glycaemic control

Nutritional status of underprivileged indian children and youth with type-1 diabetes - A multicentre study

Background: India has the highest number of prevalent type-1 diabetes (T1D) cases in the under-20-year age population. Data on the anthropometry of underprivileged Indian children with T1D are scarce. In economically disadvantaged countries like India, poor growth in patients with T1D is a major concern due to limited accessibility and affordability. Besides, due to the double burden of malnutrition, the prevalence of obesity is increasing mirroring the global trends, which may lead to the development of insulin resistance. Objectives: This study aims to assess the prevalence of malnutrition in Indian children and youth with T1D and to identify the determinants of short stature. Methods: A registry-based cross-sectional analysis of data collected from various centres across India enrolled in the Changing Diabetes in Children (CDiC) programme. Results: We observed that 6.4% were undernourished (3.4% severe undernutrition) and 17.7% (overweight 13.2%) had combined overweight/obesity. 21.2% of participants had short stature (adjusted for mid-parental height) with 7.4% cases of familial short stature. Longer duration of illness and insulin requirement were significant positive predictors of short stature while glycaemic control, insulin regimen and mid-parental height did not have a significant relationship with short stature. Participants on basal-bolus regimen had significantly higher insulin requirements and better glycaemic control than the ones on mixed-split regimen. Conclusion: We report that around one-fifth of children and youth with T1D were overweight/obese and around a fourth were stunted, especially those with longer duration of diabetes and higher insulin requirements. Close monitoring of anthropometric parameters is necessary for all children with T1D to optimize growth and nutrition

Glucose tolerance, insulin resistance and insulin secretion in young South Indian adults: relationships to parental size, neonatal size and childhood body mass index

ObjectiveTo study the relationship of newborn size and post-natal growth to glucose intolerance in south Indian adults.Research design and methods2218 men and women (mean age 28 years) were studied from a population-based birth cohort born in a large town and adjacent rural villages. The prevalence of adult diabetes mellitus [DM] and impaired glucose tolerance [IGT], and insulin resistance and insulin secretion (calculated) were examined in relation to BMI and height at birth, and in infancy, childhood and adolescence and changes in BMI and height between these stages.ResultsSixty-two (2.8%) subjects had Type 2 diabetes (DM) and 362 (16.3%) had impaired glucose tolerance (IGT). IGT and DM combined (IGT/DM) and insulin resistance were associated with low childhood body mass index (BMI) (p < 0.001 for both) and above-average BMI gain between childhood or adolescence and adult life (p < 0.001 for both). There were no direct associations between birthweight or infant size and IGT/DM; however, after adjusting for adult BMI, lower birthweight was associated with an increased risk.ConclusionsThe occurrence of IGT and Type 2 DM is associated with thinness at birth and in childhood followed by accelerated BMI gain through adolescence

Absence of birth-weight lowering effect of ADCY5 and Near CCNL, but association of impaired glucose-insulin homeostasis with ADCY5 in Asian Indians

Background: A feature of the Asian Indian phenotype is low birth weight with increased adult type 2 diabetes risk. Most populations show consistent associations between low birth weight and adult type 2 diabetes. Recently, two birth weight-lowering loci on chromosome 3 (near CCNL1 and ADCY5) were identified in a genome-wide association study, the latter of which is also a type 2 diabetes locus. We therefore tested the impact of these genetic variants on birth weight and adult glucose/insulin homeostasis in a large Indian birth cohort.Methodology/Principal Findings: Adults (n = 2,151) enrolled in a birth cohort (established 1969-73) were genotyped for rs900400 (near CCNL1) and rs9883204 (ADCY5). Associations were tested for birth weight, anthropometry from infancy to adulthood, and type 2 diabetes related glycemic traits. The average birth weight in this population was 2.79±0.47 kg and was not associated with genetic variation in CCNL1 (p = 0.87) or ADCY5 (p = 0.54). Allele frequencies for the ‘birth weight-lowering’ variants were similar compared with Western populations. There were no significant associations with growth or adult weight. However, the ‘birth weight-lowering’ variant of ADCY5 was associated with modest increase in fasting glucose (? 0.041, p = 0.027), 2-hours glucose (? 0.127, p = 0.019), and reduced insulinogenic index (? -0.106, p = 0.050) and 2-hour insulin (? -0.058, p = 0.010).Conclusions: The low birth weight in Asian Indians is not even partly explained by genetic variants near CCNL1 and ADCY5 which implies that non-genetic factors may predominate. However, the ‘birth-weight-lowering’ variant of ADCY5 was associated with elevated glucose and decreased insulin response in early adulthood which argues for a common genetic cause of low birth weight and risk of type 2 diabetes.<br/