Lavanya Ravichandran, Hesarghatta S Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla
{"title":"Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.","authors":"Lavanya Ravichandran, Hesarghatta S Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla","doi":"10.4103/ijem.ijem_303_23","DOIUrl":"10.4103/ijem.ijem_303_23","url":null,"abstract":"<p><p>Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the <i>CYP21A2</i> gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD). The genetics of 21-OH CAH is complexed by a highly homologous pseudogene <i>CYP21A1P</i> imposing several limitations in the molecular analysis. Therefore, genetic testing is still not a part of routine CAH diagnosis and is mainly dependent on 17-hydroxy progesterone (OHP) measurements. There are very few reports of <i>CYP21A2</i> gene analysis from India and there is no comprehensive review available on genetic testing and the spectrum of <i>CYP21A2</i> mutations from the country. This review focuses on the molecular aspects of 21-OHD and the genetic studies on <i>CYP21A2</i> gene reported from India. The results of these studies insist the compelling need for large-scale <i>CYP21A2</i> genetic testing and newborn screening (NBS) in India. With a high disease prevalence and consanguinity rates, robust and cost-effective genetic testing for 21-OH CAH would enable an accurate diagnosis in routine clinical practice. Whereas establishing affordable genotyping assays even in secondary care or resource-poor settings of the country can identify 90% of the mutations that are pseudogene derived, initiatives on reference laboratories for CAH across the nation with comprehensive genetic testing facilities will be beneficial in those requiring extended analysis of <i>CYP21A2</i> gene. Further to this, incorporating genetic testing in NBS and carrier screening programmes will enable early diagnosis, better risk assessment and community-based management.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"117-128"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Saptarshi Bhattacharya, Rakesh Sahay, Faria Afsana, Aisha Sheikh, Niranjala Meegoda Widanage, Robin Maskey, Mohammad Wali Naseri, Moosa Murad, K V S Harikumar, Shahjada Selim, Azizul Hasan Aamir, Dimuthu Muthukuda, Naresh Parajuli, Mohammed Daud Baheer, Ali Latheef, Lakshmi Nagendra, Sunetra Mondal, A B M Kamrul-Hasan, Syed Abbas Raza, Noel Somasundaram, Dina Shrestha, Beatrice Anne, Santosh Ramakrishnan, Sanjay Kalra
{"title":"Global Warming and Endocrinology: The Hyderabad Declaration of the South Asian Federation of Endocrine Societies.","authors":"Saptarshi Bhattacharya, Rakesh Sahay, Faria Afsana, Aisha Sheikh, Niranjala Meegoda Widanage, Robin Maskey, Mohammad Wali Naseri, Moosa Murad, K V S Harikumar, Shahjada Selim, Azizul Hasan Aamir, Dimuthu Muthukuda, Naresh Parajuli, Mohammed Daud Baheer, Ali Latheef, Lakshmi Nagendra, Sunetra Mondal, A B M Kamrul-Hasan, Syed Abbas Raza, Noel Somasundaram, Dina Shrestha, Beatrice Anne, Santosh Ramakrishnan, Sanjay Kalra","doi":"10.4103/ijem.ijem_473_23","DOIUrl":"10.4103/ijem.ijem_473_23","url":null,"abstract":"<p><p>Global warming and endocrine disorders are intertwined issues posing significant challenges. Greenhouse gases emanating from human activities drive global warming, leading to temperature rise and altered weather patterns. South Asia has experienced a noticeable temperature surge over the past century. The sizable population residing in the region heightens the susceptibility to the impact of global warming. In addition to affecting agriculture, water resources, and livelihood, environmental changes interfere with endocrine functioning. Resulting lifestyle changes increase the risk of metabolic and endocrine disorders. Individuals with diabetes face heightened vulnerability to extreme weather due to impaired thermoregulation. A high ambient temperature predisposes to heat-related illnesses, infertility, and nephropathy. Additionally, essential endocrine drugs and medical devices are susceptible to temperature fluctuations. The South Asian Federation of Endocrine Societies (SAFES) calls for collaboration among stakeholders to combat climate change and promote healthy living. Comprehensive approaches, including the establishment of sustainable food systems, promotion of physical activity, and raising awareness about environmental impacts, are imperative. SAFES recommends strategies such as prioritizing plant-based diets, reducing meat consumption, optimizing medical device usage, and enhancing accessibility to endocrine care. Raising awareness and educating caregivers and people living with diabetes on necessary precautions during extreme weather conditions are paramount. The heat sensitivity of insulin, blood glucose monitoring devices, and insulin pumps necessitates proper storage and consideration of environmental conditions for optimal efficacy. The inter-connectedness of global warming and endocrine disorders underscores the necessity of international collaboration guided by national endocrine societies. SAFES urges all stakeholders to actively implement sustainable practices to improve endocrine health in the face of climate change.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"129-136"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189284/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Systematic Review on Prevalence of Overweight and Obesity among School Children and Adolescents in Indian Population.","authors":"Nidhi Sharma, Ramya Ramasamy Sanjeevi, Karthick Balasubramanian, Aksh Chahal, Abhishek Sharma, Mohammad Sidiq","doi":"10.4103/ijem.ijem_365_23","DOIUrl":"10.4103/ijem.ijem_365_23","url":null,"abstract":"<p><p>Obesity has erupted as an epidemic around the world. It has set itself as a fast wave among other prevailing specific clusters of non-communicable diseases. The current study reviews and presents an updated meaningful review of the vast research work performed at schools located in different cities of India. A systematic search was conducted in PubMed, Scopus, Google Scholar and PEDro. Studies representing data on obesity and overweight among children in Indian cities were included in the review. A total of 21 articles with 71,466 participants were included in the review for analysis. Obesity developed in childhood and adolescence is greatly associated with heart disease, stroke and cancer (breast and ovarian in women and prostate in men) in the late stage of life. In India, despite being a country with a faster rate of population becoming overweight and obese in urban areas, in contrast, rural areas are still struggling with malnutrition.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"104-116"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tanzeela B Qazi, Tazean Z Malik, S Muhammad Salim Khan, Mariya A Qurieshi, Mohammad Iqbal Pandit, Inaamul Haq, Sabira A Dkhar, Khalid Bashir, Iqra N Chowdri, Sahila Nabi
{"title":"Burden of Goitre and Urinary Iodine Status among Primary School Children in Kashmir, India-Evidence from a Population-Based Iodine Deficiency Disorder Survey.","authors":"Tanzeela B Qazi, Tazean Z Malik, S Muhammad Salim Khan, Mariya A Qurieshi, Mohammad Iqbal Pandit, Inaamul Haq, Sabira A Dkhar, Khalid Bashir, Iqra N Chowdri, Sahila Nabi","doi":"10.4103/ijem.ijem_40_23","DOIUrl":"10.4103/ijem.ijem_40_23","url":null,"abstract":"<p><strong>Introduction: </strong>Iodine deficiency is the leading cause of preventable brain damage, with 30% of the world's population suffering from iodine deficiency disorders (IDDs). The objectives of the study are to estimate the prevalence of goitre among schoolchildren in the age group of 6-12 years, to find out the proportion of households with adequately iodised salt, and to assess the dietary iodine intake by measuring urinary iodine levels in the urine samples of school-going children.</p><p><strong>Methods: </strong>A cross-sectional study was conducted in four pre-selected districts of the Kashmir division of Jammu and Kashmir in school-going children aged 6 to 12 years. Multi-stage 30 cluster sampling was used to select the study sample. For the selection of 30 clusters in each district, probability proportional to size (PPS) was employed. From each cluster, 90 children were selected. From a sub-sample of children in each district, 540 salt samples and 270 urine samples were also collected.</p><p><strong>Results: </strong>A total of 10,800 children aged 6-12 years were examined. Grade I goitre was present in 1382 (12.8%) and 116 (1.07%) which were having Grade II goitre. The weighted prevalence of goitre for four districts was 12.6%, lowest for district Ganderbal and highest for district Shopian. Half of the population in all the districts consumed salt with iodine levels of <15 ppm. Urinary iodine levels <99.9 mg/L were present in 15.7% indicating mild to moderate iodine deficiency.</p><p><strong>Conclusion: </strong>Though the present survey showed some decline in the total goitre rate (TGR) from a prevalence of 14.8% in 2017 to 12.6% in 2022, it continues to be a public health problem of mild to moderate intensity in Kashmir. The salt consumed at the household level was inadequately iodised. Hence, efforts in IDD elimination activities need to be scaled up further with emphasis on iodised salt quality control and intensive education at the community level.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"177-183"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189290/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nanis S Marzuki, Hannie D Kartapradja, Farah N Coutrier, Irfan Wahyudi, Jose R L Batubara
{"title":"Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases.","authors":"Nanis S Marzuki, Hannie D Kartapradja, Farah N Coutrier, Irfan Wahyudi, Jose R L Batubara","doi":"10.4103/ijem.ijem_257_23","DOIUrl":"10.4103/ijem.ijem_257_23","url":null,"abstract":"<p><strong>Introduction: </strong>One of the common causes of 46,XY differences in sex development (DSD) cases is androgen insensitivity syndrome. This X-linked recessive inherited condition is associated with pathological variations of the AR gene, leading to defects in androgen action. Affected 46,XY infants or individuals experience variable degrees of undervirilization and those with severe form will have female-like external genitalia. Therefore, they were more likely assigned and reared as females. The confirmatory molecular test is often needed due to similar clinical manifestations with other conditions causing 46,XY DSD. Since in our country, the molecular test for the AR gene is lacking, the study is conducted as a preliminary study to elaborate on the possibility of developing a molecular test for the AR gene in 46,XY DSD cases.</p><p><strong>Methods: </strong>Archived DNAs of 13 46,XY DSD cases were analyzed using polymerase chain reaction and direct sequencing for molecular defects in the AR gene. Clinical and hormonal data were collected and analyzed.</p><p><strong>Results: </strong>The study successfully amplified and visualized the eight exons of the AR gene and revealed two subjects carrying AR gene variants at exon 7. In the first case, 1.2-year-old boy carried heterozygous p.Gln825Arg, which has never been reported elsewhere, and the second subject, a 2.1-year-old girl with heterozygous p.Arg841His. Both subjects presented with severe undervirilization of external genitalia with external genitalia masculinization scores (EMS) of 1.5 and 3.</p><p><strong>Conclusion: </strong>In this series, two of 13 46,XY DSD cases carried variants at the AR gene, resulting in complete androgen insensitivity syndrome.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"197-200"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study.","authors":"Rana Bhattacharjee, Partha P Chakraborty, Neeti Agrawal, Ajitesh Roy, Animesh Maiti, Subhankar Chowdhury","doi":"10.4103/ijem.ijem_221_23","DOIUrl":"10.4103/ijem.ijem_221_23","url":null,"abstract":"<p><strong>Introduction: </strong>We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In addition, we tried to propose a diagnostic algorithm for the evaluation of such patients.</p><p><strong>Methods: </strong>This was a retrospective cross-sectional study conducted in two tertiary care centres of West Bengal. Data of patients were retrieved between 2014 and 2021.</p><p><strong>Results: </strong>Out of 101 children, 22 had conditions simulating rickets. Renal tubular acidosis (RTA) was the most common (53.2%) etiology of rickets, followed by phosphopenic rickets (PR) (22.8%) and calcipenic rickets (CR) (17.7%). The prevalence of true nutritional rickets (NR) was only 8.9%. Children with RTA had a significantly higher prevalence of chronic ill health (69%) and polyuria (95.2%). Weight standard deviation score (SDS) and body mass index (BMI) SDS scores were significantly lower in the RTA group compared to others. Around 90.5% of children with RTA, and none in the other groups, had hypokalemia. Biochemically, hypophosphatemia and elevated alkaline phosphatase (ALP) were present in all patients with PR and CR. Compared to CR, median serum phosphate was significantly lower in the PR group. A significant difference in ALP values was noticed in patients with hypophosphatemia (815 ± 627 IU/L) compared to those without (279 ± 204 IU/L). Plasma parathyroid hormone (PTH) of 100 pg/ml seemed useful to differentiate CR from other forms.</p><p><strong>Conclusion: </strong>NR is uncommon in tertiary care centres. Children with rickets should be approached systematically with the estimation of ALP, phosphorus, creatinine, calcium, PTH and 25-hydroxy vitamin D to reach an etiological diagnosis.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"184-191"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sonal V Kasture, Shruti A Mondkar, Anuradha V Khadilkar, Ketan Gondhalekar, Anshu Sethi, Vaman V Khadilkar
{"title":"Dynamic Muscle Function Parameters in Indian Children and Adolescents with Type 1 Diabetes Mellitus: A Case-Control Study.","authors":"Sonal V Kasture, Shruti A Mondkar, Anuradha V Khadilkar, Ketan Gondhalekar, Anshu Sethi, Vaman V Khadilkar","doi":"10.4103/ijem.ijem_140_23","DOIUrl":"10.4103/ijem.ijem_140_23","url":null,"abstract":"<p><strong>Introduction: </strong>Recent evidence reveals that type 1 diabetes mellitus (T1DM) impairs muscle function (MF) in adolescents. However, despite its importance in physical well-being, data on dynamic MF in Indian children and adolescents (C and Y) with T1DM are scarce. We assessed MF using Jumping Mechanography (JM, a measurement method for motion analysis and assessment of muscle power and force). (1) To assess dynamic MF by JM in C and Y with T1DM as compared to healthy controls (2) To determine predictors of MF in children with T1DM.</p><p><strong>Methods: </strong>A cross-sectional observational study on 266 children (133 - T1DM duration >1 year with no known comorbidities + 133 age and gender-matched healthy controls) aged 6-19 years. Anthropometry, body composition, and MF (maximum relative power Pmax/mass, maximum relative force Fmax/BW by JM) were recorded. The lean mass index (LMI) was calculated as lean mass (kg)/height (m<sup>2</sup>). HbA1c was assessed in T1DM. Independent sample <i>t</i>-test and linear regression were performed.</p><p><strong>Results: </strong>MF parameters (Pmax/mass 33.5 ± 7.2 vs 38.0 ± 8.6 W/kg and Fmax/BW 10.5 ± 2.9 vs 11.4 ± 4.1 N/kg, <i>P</i> < 0.05) were significantly lower in T1DM group vs controls. Positive association of body mass index and LMI with both MF parameters and negative association of insulin requirement and HbA1c with Fmax was observed in T1DM. Predictors of MF identified were MMI (Pmax/mass:b = 1.6,95%CI = 0.6-2.6; Fmax/BW:b =2.0,95%CI = 1.6-2.4) and HbA1c (Pmax/mass:b = -2.1,95%CI = -4.5--0.5; Fmax/BW:b = -1.1,95%CI = -2.0--0.2) (<i>P</i> < 0.05).</p><p><strong>Conclusion: </strong>C and Y with T1DM exhibits compromised muscle function. Poor glycaemic control increases the risk of having decreased MF, irrespective of diabetes duration and may contribute to sarcopenia in adulthood.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"201-207"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pragmatic Evaluation of Growth Hormone Stimulation Tests in Short Stature.","authors":"Rahul Gupta, Aashima Dabas, Shweta Kohli, Rekha Ramot, Viveka P Jyotsna, Alpesh Goyal, Yashdeep Gupta, Rajesh Khadgawat","doi":"10.4103/ijem.ijem_326_23","DOIUrl":"10.4103/ijem.ijem_326_23","url":null,"abstract":"<p><strong>Introduction: </strong>To assess the performance of growth hormone stimulation tests (GHSTs) in the evaluation of short stature.</p><p><strong>Methods: </strong>It was a single-centre retrospective study carried out in children evaluated for short stature between January 2005 to March 2020. The clonidine stimulation test (CST) and glucagon stimulation test (GST) were used to assess growth hormone (GH) reserve (GST was performed only when peak GH levels were between 5 to ≤10 ng/mL on CST). A GH level of <5 ng/mL on CST or ≤10 ng/ml on both was used to corroborate GH deficiency.</p><p><strong>Results: </strong>A total of 556 children were eligible for this study. The mean (SD) age was 12.9 (3.5) years, and 66.3% were male. The peak GH level [median (IQR)] was 5.50 ng/ml (1.90 - 7.50) on CST (at 60 minutes) and 7.45 ng/ml (2.15 - 10.77) on GST (at 120 minutes). On restricting sampling to two time points, the false positive rate was 13.6% on CST (60, 90 minutes) and 11.5% on GST (120, 150 minutes). Similarly, restricting to three time points was associated with a false positive rate of 8.5% on CST (60, 90, 120 minutes) and 3.8% on GST (90, 120, 150 minutes). Using the treating clinician-determined diagnosis of GHD as a reference standard, the optimal cut-off of peak GH on CST was 7.79 ng/ml (sensitivity: 83.8%; specificity: 89.4%).</p><p><strong>Conclusion: </strong>Restricting the GH sampling to fewer time points is associated with an increase in the false positivity rate (FPR).</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"137-144"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chirantap Oza, Anuradha V Khadilkar, Pranay Goel, Tim Aeppli, Shruti Mondkar, Nikhil Shah, Nikhil Lohiya, Hemchand Krishna Prasad, Prashant Patil, Chidvilas More, Neha Kajale, Vaman Khadilkar, Lars Sävendahl
{"title":"Standardization of Weightage Assigned to Different Segments of the Hand X-ray for Assessment of Bone Age by the Greulich-Pyle Method.","authors":"Chirantap Oza, Anuradha V Khadilkar, Pranay Goel, Tim Aeppli, Shruti Mondkar, Nikhil Shah, Nikhil Lohiya, Hemchand Krishna Prasad, Prashant Patil, Chidvilas More, Neha Kajale, Vaman Khadilkar, Lars Sävendahl","doi":"10.4103/ijem.ijem_237_23","DOIUrl":"10.4103/ijem.ijem_237_23","url":null,"abstract":"<p><strong>Introduction: </strong>Bone age (BA) assessment is important in evaluating disorders of growth and puberty; the Greulich and Pyle atlas method (GP) is most used. We aimed to determine the weightage to be attributed by raters to various segments of the hand x-ray, namely, distal end of radius-ulna (RU), carpals, and short bones for rating bone age using the GP atlas method.</p><p><strong>Methods: </strong>692 deidentified x-rays from a previous study (PUNE-dataset) and 400 from the Radiological Society of North America (RSNA-dataset) were included in the study. Mean of BA assessed by experienced raters was termed reference rating. Linear regression was used to model reference age as function of age ratings of the three segments. The root-mean-square-error (RMSE) of segmental arithmetic mean and weighted mean with respect to reference rating were computed for both datasets.</p><p><strong>Results: </strong>Short bones were assigned the highest weightage. Carpals were assigned higher weightage in pre-pubertal PUNE participants as compared to RSNA, vice-versa in RU segment of post-pubertal participants. The RMSE of weighted mean ratings was significantly lower than for the arithmetic mean in the PUNE dataset.</p><p><strong>Conclusion: </strong>We thus determined weightage to be attributed by raters to segments of the hand x-ray for assessment of bone age by the GP method.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"160-166"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Metabolic Profile of Offspring of Mothers with Gestational Diabetes Mellitus.","authors":"Nazish Malik, Ayesha Ahmad, Hamid Ashraf","doi":"10.4103/ijem.ijem_211_23","DOIUrl":"10.4103/ijem.ijem_211_23","url":null,"abstract":"<p><strong>Introduction: </strong>Gestational diabetes mellitus (GDM) is defined as diabetes diagnosed in the second or third trimester of pregnancy that was not clearly overt diabetes before gestation. Unrecognized and untreated GDM confers significantly greater maternal and fetal risk, which is largely related to the degree of hyperglycemia. The specific risks of diabetes in pregnancy include but are not limited to, spontaneous abortion, pre-eclampsia, fetal anomalies, macrosomia, neonatal hypoglycemia, hyperbilirubinemia, and respiratory distress syndrome. Additionally, GDM is also implicated in long-term metabolic derangements in the offspring in the form of obesity/overweight, hypertension, dysglycemia, insulin resistance, and dyslipidemias later in life. To determine the prevalence of anthropometric and metabolic derangements in children between 1 and 5 years of age, born to women with GDM.</p><p><strong>Methods: </strong>This hospital-based cross-sectional study was conducted between November 2019 and November 2021 at our Pediatric Endocrine Clinic. Women were diagnosed as having GDM based on the American Diabetes Association Criteria (2019). History regarding the treatment of the GDM (diet only/diet and medical treatment) and detailed physical examination, including anthropometry and blood pressure, were recorded. Blood samples were collected from children for the estimation of their metabolic profile.</p><p><strong>Results: </strong>Overweight, obesity, and severe obesity were present in 18 (11.3%), 2 (1.3%), and 2 (1.3%) children, respectively. Hypertension was found in 21 (19.4%) children. Elevated LDL, triglyceride, and total cholesterol were seen in 3 (1.9%), 84 (52.5%), and 1 (0.6%) children, respectively. Impaired fasting glucose (IFG) was found in 6 (3.8%) children, while 27 (16.9%) subjects were found to be having impaired glucose tolerance after OGTT. Insulin resistance was found in 30 (18.8%) children. GDM mothers with a higher BMI tended to have children with a higher BMI (correlation coefficient, r = .414, <i>P</i> < .001). Higher serum triglyceride levels (r = -0.034, <i>P</i> = 0.672) were recorded in children, irrespective of the BMI of their mothers. There was no significant correlation of maternal BMI with blood pressure (r = -0.134, <i>P</i> = 0.091) or with HOMA-IR (r = 0.00, <i>P</i> = 0.996) in children. However, mothers with a higher BMI had children with statistically higher fasting blood glucose (r = +0.339, <i>P</i> = <0.001) as well as blood glucose 2 hours after OGTT (r = +0.297, <i>P</i> = <0.001). This positive correlation of maternal BMI with the glucose metabolism of their offspring was observed for both male and female genders.</p><p><strong>Conclusion: </strong>Children of women with GDM had a higher BMI, and the mode of treatment for GDM did not lead to differences in childhood BMI. The higher BMI of a GDM mother is associated with altered glucose metabolism in their offspring. Deranged levels of triglyc","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 2","pages":"192-196"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}