Publications by authors named "Vaman Khadilkar"

147 Publications

Test Anxiety among School-Going Children and Adolescents, Factors Affecting and Impact on Quality of Life: A Multicenter Study: Authors' Reply.

Indian J Pediatr 2021 Jul 8. Epub 2021 Jul 8.

Department of Pediatrics, Dr D Y Patil Medical College, Hospital and Research Center, Pune, 411001, Maharashtra, India.

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http://dx.doi.org/10.1007/s12098-021-03874-7DOI Listing
July 2021

Long-term follow-up of a child with Wolcott-Rallison syndrome.

BMJ Case Rep 2021 May 13;14(5). Epub 2021 May 13.

Paediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hopsital, Pune, Maharashtra, India

Wolcott-Rallison syndrome (WRS), the most common cause of permanent neonatal diabetes mellitus (DM) in consanguineous families, has a poor prognosis, with a mean survival of 5.8 years. Majority of children with WRS succumb to the disease in the first decade of life. We present the long-term follow-up of an 8-year-2-month-old girl with genetically proven WRS who was born to a non-consanguineous parentage. She is on basal bolus regimen of insulin therapy for DM. In addition, she was noted to have features of skeletal dysplasia at 3 years and 3 months of age, which has led to her short stature. Surprisingly, she has had no episodes of hepatitis or liver dysfunction so far, which is frequently seen in children with WRS. To the best of our knowledge, she is the oldest surviving patient with WRS reported in India and South Asia.
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http://dx.doi.org/10.1136/bcr-2021-242376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8126271PMC
May 2021

Appropriateness of Lower Waist Circumference Cutoffs for Predicting Derangement in Metabolic Parameters Among Asian Children and Adolescents: A Pilot Study.

Indian Pediatr 2021 Apr;58(4):392-394

Pediatric Endocrinologist, HCJMRI, Jehangir Hospital, Pune, Maharashtra, India.

Waist circumference (WC) >90th percentile cut-off effectively screens children for metabolic syndrome, as some specific metabolic derangements (high fasting serum levels of insulin and triglycerides) may be better associated with lower (70th percentile) waist circumference cut off. We evaluated a subset of children and adolescents found obese or overweight following the anthropometric screening in a school-based survey. Metabolic parameters (fasting insulin levels, fasting blood sugar and fasting lipid profile and blood pressure) were compared among 3 groups of obese or overweight children divided on the basis of WC percentiles (>90th, 70th-90th and <70th). 78 children (aged 11-18 years, 45 boys) were evaluated. The proportion of participants with high triglycerides and fasting insulin among those with WC<70th (28.6%, 19%) was significantly lower than that in the group with WC >90th (76.9%, 53.8%) as well as in group with WC 70th-90th percentile (38.7%, 41.9%).
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079850PMC
April 2021

Test Anxiety among School-Going Children and Adolescents, Factors Affecting and Impact on Quality of Life: A Multicenter Study.

Indian J Pediatr 2021 Feb 25. Epub 2021 Feb 25.

Department of Pediatrics, Dr D Y Patil Medical College & Hospital, Pune, Maharashtra, India.

Objective: To assess test anxiety (TA) and factors affecting TA in school-going children. To observe the impact of TA on quality of life (QOL).

Method: A multi-centric cross-sectional observational study was conducted in Indian schools from 6 different states in both rural and urban settings. Indian school children 9 to 18-y-old were the subjects. Demographic data, including age, gender, and socioeconomic status, were obtained. Children were administered Test Anxiety Inventory (TAI) and PedsQL (Pediatric Quality of Life). TAI score (and factors affecting it in both rural and urban children) and QOL scores were assessed.

Results: Data on 2158 children were analyzed (1162 boys). The mean age was 13.8 ± 1.8 y, and the mean TAI score was 48.3 ± 10.2. TAI score was significantly higher in girls and rural children (p < 0.05 for both). Based on the TAI score, high, medium, and low-anxiety clusters were generated. Proportion of children with high, medium and low-anxiety scores were 18%, 48%, and 34%, respectively. Children with low anxiety had better QOL in all subdomains (p < 0.05). Regression analysis indicated increasing age, low QOL, urban living, and lower maternal education as significant predictors of high anxiety (p < 0.05).

Conclusion: Girls and rural children had higher TA. Two-thirds of children studied had moderate to high TA. Increasing age, urban living, QOL, and maternal education had an impact on TA. Evaluating TA and developing appropriate strategies for stress-reduction in school children is necessary.
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http://dx.doi.org/10.1007/s12098-021-03676-xDOI Listing
February 2021

Trabecular Bone Score has Poor Association With pQCT Derived Trabecular Bone Density in Indian Children With Type 1 Diabetes and Healthy Controls.

J Clin Densitom 2021 Apr-Jun;24(2):268-274. Epub 2020 Dec 10.

Growth and Pediatric Endocrine Department, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India; School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India. Electronic address:

Background: In children with type 1 diabetes mellitus (T1DM), low trabecular volumetric bone mineral density (Trab vBMD) has been reported. However, studies using the trabecular bone score (TBS) are scarce. The objective of our study was to assess areal bone mineral density at the lumbar spine (LS aBMD), the TBS and Trab vBMD in children with type 1 diabetes in comparison with healthy controls and to assess the relationship of Trab vBMD with TBS.

Methods: A total of 205 children were assessed for their LS bone mineral content (BMC) and LS aBMD by dual energy x-ray absorptiometry (DXA) and Trab vBMD at distal radius by peripheral quantitative computed tomography (pQCT). Machine generated Z-scores for both LS aBMD and Trab vBMD were used. The retrospective DXA LS scans in children with T1DM (n=137, age 13.1 ± 3.2 years) and controls (n = 68, age 13.0 ± 2.7 years) were analysed with a research trial version of TBS iNsight software (Medimaps Group). The established TBS cut-offs were used to categorize TBS.

Results: The mean LS BMC, LS aBMD, TBS and Trab vBMDs were lower in children with T1DM. TBS was positively correlated with LS aBMD but not with Trab vBMD in both groups. Distribution of T1DM and control children was similar in the TBS categories. Over a fourth of the T1DM children with low Trab vBMD (below -2 Z score) had normal TBS, while, in children with LS aBMD Z-score > -2 from both groups, >50% had degraded or partially degraded TBS. Degraded TBS was seen in half the control children although none of them had low Trab vBMD.

Conclusion: We found poor correlation between TBS and Trab vBMD in paediatric diabetic and healthy population. Our results also suggest establishing paediatric TBS cut offs in improving the classification of children having degraded trabecular bone.
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http://dx.doi.org/10.1016/j.jocd.2020.12.001DOI Listing
December 2020

Comprehensive evaluation of bone health using DXA and pQCT in an Indian boy with osteogenesis imperfecta.

BMJ Case Rep 2020 Dec 13;13(12). Epub 2020 Dec 13.

Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India.

We present a 9-year-old male child having history of fractures on trivial trauma with a family history of the same. He was treated for osteogenesis imperfecta (OI; zolendronate, calcium and vitamin D) and showed clinical improvement. On evaluating his bone health using dual energy X-ray absorptiometry and peripheral quantitative CT, we found that the child had bone density within the reference range but a smaller bone mass for his height, low muscle mass and thin bones with a lower strength strain index in comparison with healthy children. Our case suggests that treatment with bisphosphonates results in increase in bone density; however, bones remain thin and the lean body mass in these children may also be low. Controlled physical activity to improve muscle health and newer approaches to improve bone geometry would result in better bone health in children with OI.
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http://dx.doi.org/10.1136/bcr-2020-236169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7737019PMC
December 2020

Intussusception as a rare clinical presentation of a child with type 1 diabetes and diabetic ketoacidosis.

BMJ Case Rep 2020 Dec 9;13(12). Epub 2020 Dec 9.

Department of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India.

Intussusception in children is mainly idiopathic or due to a viral aetiology. Occasionally, pathological lead points like Meckel diverticulum or rarely metabolic causes like hyperglycaemia can result in formation of an intussusception. We describe the case of a boy with diabetic ketoacidosis presenting with abdominal pain. Despite correction of acidosis, the gastrointestinal symptoms persisted for which an ultrasonography of the abdomen was performed. It revealed an ileo-ileal intussusception, which was confirmed by a CT scan. He underwent an exploratory laparotomy. After reduction of the intussusception, a Meckel diverticulum was found as the lead point that was then resected. We present a case of a child with type 1 diabetes having an intussusception due to Meckel diverticulum, which was probably made worse by the decreased intestinal motility due to hyperglycaemia. Intussusception should thus be suspected in patients with diabetic ketoacidosis if the pain is persistent despite correction of acidosis.
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http://dx.doi.org/10.1136/bcr-2020-237229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733091PMC
December 2020

To study impact of treatment with Rosuvastatin versus Atorvastatin on 25 hydroxy Vitamin D concentrations among adult Indian men- a randomized control trial.

Indian J Pharmacol 2020 Sep-Oct;52(5):365-371

Department of Pediatric Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.

Background: Dyslipidemias are on the rise and are increasingly being treated with statins. As the metabolism of cholecalciferol and cholesterol are interrelated, reduction in cholesterol synthesis by statins is likely to affect Vitamin D status.

Objectives: (1) The aim is to study the effect of treatment with statins (Atorvastatin/Rosuvastatin) on 25-hydroxy-Vitamin-D (25OHD) among newly detected subjects with dyslipidemia for 6 months (2) To study the impact of 25OHD concentrations on the efficacy of statin treatment.

Materials And Methods: This was a prospective, balanced randomized (1:1), open-label, parallel-group study, in apparently healthy Indian adult men (south Asian, 40-60 years). At baseline, serum lipids and 25OHD concentrations were measured. Based on the Adult Treatment Panel III guidelines, subjects were divided as per lipid concentrations into controls (who did not require statin treatment) and intervention (who required statin treatment) groups. Random allocation of subjects was done in two groups for receiving intervention for 6 months: Atorvastatin group (n = 52, received Atorvastatin) or Rosuvastatin group (n = 52, received Rosuvastatin). Lipids and 25OHD concentrations were measured at the end line.

Results: Atorvastatin group presented significant reduction (P < 0.05) in 25OHD, total cholesterol (TC) and low-density-lipoprotein-cholesterol (LDL-C) concentrations at the end line. In the Rosuvastatin group, significant drop in TC, LDL-C and high-density lipoprotein cholesterol (concentrations (P < 0.05) was observed, while 25OHD concentrations showed no significant change. Mean 25OHD concentrations were significantly correlated with a reduction in LDL-C concentrations in Atorvastatin group.

Conclusions: Treatment with Atorvastatin resulted in a reduction in 25OHD concentrations; further, its efficacy in reducing LDL-C concentrations was related to the 25OHD concentrations.
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http://dx.doi.org/10.4103/ijp.IJP_93_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025761PMC
December 2020

Pediatrician-Friendly IAP Growth Charts for Children Aged 0-18 Years.

Indian Pediatr 2020 11;57(11):997-998

Convener, IAP Growth Chart Committee 2015.

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November 2020

A LC-MS method for 25-hydroxy-vitamin D3 measurements from dried blood spots for an epidemiological survey in India.

Sci Rep 2020 11 16;10(1):19873. Epub 2020 Nov 16.

Hirabai Cowasji Jehangir Medical Research Institute, Pune, India.

Vitamin D, a secosteroid, plays an important role in several physiological processes, and its deficiency can lead to numerous pathophysiological conditions in humans. The primary objective of this study was to develop and validate the robustness of a mass spectrometry-based method capable of quantifying 25(OH)D3 for an upcoming epidemiological survey in India and to pilot test it on healthy volunteers. We first describe the development and validation of various experimental parameters that ascertain the robustness and reliability of 25-hydroxy-vitamin D3 (25(OH)D3) extractions and quantitative measurements from Dried Blood Spot (DBS) samples, where we used eight disks of 3 mm each, punched from the circular spot covering the entire circumference of the spot. Next, we conducted a pilot study, comparing 25(OH)D3 levels from serum and DBS samples from 45 participants using a protocol developed for specifically this purpose. We found that the mean 25(OH)D3 concentrations in DBS samples were comparable to the serum levels (P > 0.05). In summary, our extraction and LC-MS protocol for quantitative 25(OH)D3 measurements are robust and reproducible, and will serve as an invaluable tool for upcoming epidemiological surveys in India and perhaps around the world.
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http://dx.doi.org/10.1038/s41598-020-76955-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670412PMC
November 2020

Impact of lockdown for COVID-19 pandemic in Indian children and youth with type 1 diabetes from different socio-economic classes.

J Pediatr Endocrinol Metab 2021 Feb 13;34(2):217-223. Epub 2020 Nov 13.

Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.

Objectives: In March 2020, lockdown was imposed in India to combat spread of Coronavirus, which was extended till 31st May. Implementation of lockdown and limited outdoor activities resulted in changes in routines of children with diabetes. The aim of this study was to assess the impact of lockdown on glycemic control, weight and body mass index (BMI) patterns of children with type 1 diabetes (T1DM) from different socio-economic (SE) classes.

Methods: This observational study included 77 children and youth (5-20 years) with T1DM having disease duration of ≥6 months. Demographic data and investigations were recorded at two time points (post lockdown when the children came for follow up, pre lockdown data from medical records).

Results: Glycemic control improved (pre lockdown HbA1C 79.4±19.2 vs. post lockdown Hba1C 74.5±16.9 mmol/mol, p<0.05) and there was weight gain post lockdown (pre lockdown weight z-score -0.4±0.8 vs. post lockdown weight z-score -0.2±0.8, p<0.05) without any significant change in BMI and insulin requirements. Improved glycemic was seen in the lower SE group control post lockdown (p<0.05), whereas in higher SE group, it remained unchanged. Children whose parents were at home during lockdown showed an improved glycemic control (p<0.05) as compared to children whose parents continued to work during lockdown (p>0.01).

Conclusions: During coronavirus lockdown, glycemic control was adequately maintained in children with T1DM, highlighting importance of stronger family support system leading to more steady daily routine.
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http://dx.doi.org/10.1515/jpem-2020-0460DOI Listing
February 2021

Diabetes distress in Indian children with type 1 diabetes mellitus and their mothers.

J Pediatr Endocrinol Metab 2021 Feb 13;34(2):209-216. Epub 2020 Nov 13.

Growth and Pediatric Endocrine, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India.

Background: Children and their mothers, who are usually the primary caregivers, are likely to be distressed due to type 1 diabetes (T1DM).

Objectives: (1) To assess diabetes-specific distress (DD) perceived by children and adolescents with T1DM and their mothers and association of distress between children and mothers. (2) To study the association of diabetes distress with glycemic control and disease duration.

Subjects: Children and adolescents with T1DM over eight years and their mothers.

Methods: Clinical data were recorded. DD was assessed by Problem Associated in Diabetes-Pediatric (PAID-Peds) (range 0-80) and Problem Associated in Diabetes-Parents Revised (PAID-PR) (range 0-72) questionnaires (higher scores indicate higher distress); administered to children and mothers, respectively. Sub-dimensions in questionnaires included diabetes-related emotional problems, and treatment-, food-, and social support-related problems. Correlation analysis (Spearman's) was performed, and a paired -test was used to compare PAID-Peds and PAID-PR (SPSS 25).

Results: Mean PAID-Peds and PAID-PR scores in 67 children and mothers were 24.4 ± 18.1 and 31.9 ± 21.5, respectively (p=0.009), and a significant correlation was noted between their scores (R=0.45, p=0.001). PAID-Peds score was positively associated with HbA1c (R=0.25, p=0.04). Diabetes-related emotional problems of mothers and children (R=0.38, p=0.003), treatment problems (R=0.5, p=0.001), and food problems (R=0.24, p=0.05) correlated positively. Subdimension scores were significantly different in children and mothers except in the social support domain.

Conclusion: DD was higher in mothers than children; higher distress in children was associated with poor metabolic control. Evaluation of DD needs to be performed in children with T1DM.
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http://dx.doi.org/10.1515/jpem-2020-0339DOI Listing
February 2021

DXA and pQCT derived parameters in Indian children with beta thalassemia major - A case controlled study.

Bone 2021 02 31;143:115730. Epub 2020 Oct 31.

Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University, NHS Foundation Trust, Manchester, UK.

Children with beta thalassemia major (BTM) are known to have reduced bone mass which increases incidence of non-traumatic fractures. Few studies have assessed prevalence of fractures and bone health in underprivileged children with BTM. Our objectives were to 1) determine prevalence of fractures in underprivileged Indian children with BTM, 2) assess size corrected bone density and bone geometry using Dual x-ray absorptiometry (DXA) and peripheral quantitative computerized tomography (pQCT) in these children and healthy controls 3) determine predictors of fractures in children with BTM 4) compare differences in bone density between children with BMT with and without fractures. Bone mineral content and areal bone mineral density (aBMD) of lumbar spine and whole body and vertebral fracture assessment (VFA) was performed by DXA in 334 children (3-18 years, 167 BTM + 167 controls). Volumetric BMD (vBMD) and bone geometry were assessed by pQCT (subset, 70 BTM, 70 healthy) at distal radius. Children with BTM had higher prevalence of vertebral and long bone fractures (p < 0.05). DXA aBMD was lower in children with BTM (p < 0.05), whereas, lumbar spine bone mineral apparent density (LSBMAD) was higher (p > 0.05). Children with BTM had lower total distal radial vBMD, cortical vBMD and strength strain index (SSI) at 66% site whereas, distal radial trabecular vBMD at 4% was higher (p < 0.05). On height adjustment, children with BTM had lower muscle area and cortical thickness and higher marrow area (p < 0.05) at 66% site. Age, body size, total body less head (TBLH) aBMD and strength strain index (SSI) were important predictors of fractures in children with BTM. Thus, children with BTM had higher prevalence of non-traumatic fractures. Despite lower areal and volumetric densities, they had higher LSBMAD and trabecular densities which may be attributed to erythroid hyperplasia and iron deposition due to inadequate transfusion and chelation. As LSBMAD is raised in these children, it is unlikely to identify BTM subjects at risk of fracture; VFA thus maybe useful in identifying asymptomatic vertebral fractures.
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http://dx.doi.org/10.1016/j.bone.2020.115730DOI Listing
February 2021

Turner Syndrome Growth Charts: A Western India Experience.

Indian J Endocrinol Metab 2020 Jul-Aug;24(4):333-337. Epub 2020 Aug 27.

Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.

Background And Objectives: Disease specific growth charts are useful to monitor growth and disease progress in specific disorders such as Turner syndrome. As there is a paucity of data on spontaneous growth of Indian girls with Turner syndrome, the objectives were to construct reference curves for height and assess height velocity in Indian girls with Turner syndrome from 5 centers from western India.

Material And Methods: Three hundred forty-eight readings of height and weight on 113 genetically proven girls with Turner Syndrome from 5 centers from western India were collected and retrospectively analyzed. Data were collected over the last 2 decades (GH treatment naive girls were included). The method described by Lyon . was used to compute smoothed standard deviations and percentiles for height. For computing growth velocities, longitudinal data were used on 104 untreated girls (longitudinal readings for height for a minimum of 3 years were used). Midparental height z scores (MPHZ) were computed.

Results: In girls with Turner syndrome, the mean adult height was found to be 140.1 cm. Height velocity was low at all ages compared to normal girls with a notable difference beyond the age of 10 years where normally, a growth spurt is expected. The MPH Z-score correlated positively with the height Z-score. The 3, 50, and 97 height percentiles of Turner girls at all ages were lower than normal girls' charts.

Conclusion: Turner syndrome charts for height are presented; these charts may be used to monitor growth in girls with Turner syndrome.
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http://dx.doi.org/10.4103/ijem.IJEM_123_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540828PMC
August 2020

Increased prevalence of fractures in inadequately transfused and chelated Indian children and young adults with beta thalassemia major.

Bone 2021 02 18;143:115649. Epub 2020 Sep 18.

Growth and Pediatric Endocrine Department, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32, Sassoon Road, Pune, Maharashtra 411 001, India; School of Health Sciences, Savitribai Phule Pune University, Ganeshkhind Rd, Ganeshkhind, Pune, Maharashtra 411007, India. Electronic address:

Introduction: In patients with beta thalassemia major, inadequate transfusion and chelation may compromise bone health and increase risk of fractures. The objective of this study was to describe the prevalence of fractures in Indian inadequately transfused and chelated children, adolescents and young adults with beta thalassemia major.

Methods: We studied 179 patients with beta thalassemia (3.6-28.3 years; 105 boys). Medical, transfusion, chelation and fracture history were recorded. Vertebral fracture assessment (VFA) was performed using lateral spine images acquired using the GE Lunar iDXA (Wisconsin, MD). Fractures were classified according to an adapted semi-quantitative method.

Results: History of non-traumatic long bone fractures was observed in 21% patients (n = 37); there were significantly greater (p < 0.05) number of males (n = 30) than females (n = 15). The 21% fracture prevalence in the present study is higher than the reported fractures of 9% in healthy Indian children and adolescents. The prevalence of vertebral fractures was 4.5% (n = 8) in the study group. Of those with fractures, four patients had both long bone and vertebral fractures, and (any, long bone or vertebral fractures) sixteen patients had more than 1 fracture; eleven patients had 2 fractures, four patients had 3 fractures and one patient had 5 fractures. Thus, in 179 patients, there were a total of 68 single fractures which translates to 307 fractures per 10,000 patient years.

Conclusion: This study found increased prevalence of non-traumatic long bone and vertebral fractures in children and adolescents with thalassemia major.
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http://dx.doi.org/10.1016/j.bone.2020.115649DOI Listing
February 2021

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Endocrine 2021 01 18;71(1):189-198. Epub 2020 Sep 18.

Consultant Pediatrician and Deputy Director, Hirabai Cowasji Jehangir medical research Institute, Jehangir Hospital, Pune, Maharashtra, India.

Purpose: Accurate diagnosis is required for management of Congenital adrenal hyperplasia (CAH). The conventional method for detection of mutations in the CYP21A2 gene is targeted capillary sequencing which is labor intensive and has limited multiplexing capability. Next generation sequencing (NGS) provides data with high sequence coverage and depth. Our objective was to develop an accurate NGS-based assay to characterize the mutation spectrum in CYP21A2 gene in Indian patients suspected to have 21-OH CAH.

Methods: Cases with 21-OH CAH from 12 endocrine units across India were studied. DNA was extracted from proband's and parent's(subset) blood. Locus-specific long-range PCR and gel electrophoresis of amplicons was followed by NGS where no visible 30 kb homozygous/whole gene deletion was observed. Orthogonal confirmation was performed by capillary sequencing (ABI 3500) and Multiplex Ligation-dependent Probe Amplification (MLPA, MRC-Holland). PCR products were purified and individual libraries were pooled and sequenced (Illumina).

Results: Of the 310 CAH cases, biallelic mutations (pathogenic/ likely pathogenic variants involving both CYP21A2 gene copies) were detected in 256 (82.6%), heterozygous mutations in 13 (4.2 %), and none in 41 (13.2%). Most common mutation was c.293-13A/C>G (29.03%), followed by 30 kb deletion (18.24%). Thirty samples tested orthogonally (by capillary sequencing or MLPA) showed 100% concordance with NGS assay. Nine novel variants were identified.

Conclusions: We have developed and validated a comprehensive NGS-based assay for detection of variants in CYP21A2 gene in patients with 21-OH CAH. We describe CYP21A2 mutation spectrum and novel variants in a large cohort of Indian patients with CAH.
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http://dx.doi.org/10.1007/s12020-020-02494-zDOI Listing
January 2021

Cardiometabolic Risk in Pre- and Post-Menopausal Women with Special Reference to Insulin Resistance: A Cross-Sectional Study.

J Midlife Health 2020 Jan-Mar;11(1):22-26. Epub 2020 May 4.

Pediatric Growth and Endocrine Department, Hirabai Cowasji, Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.

Background: Reduced levels of estrogen have been associated with metabolic alterations and increased insulin resistance (IR) in postmenopausal women, thus predisposing them to cardiometabolic risks. The aim of this study was to assess alterations in parameters of cardiometabolic risk in apparently healthy pre- and post-menopausal women and to study the effect of IR on these metabolic parameters.

Methods: A cross-sectional study was conducted on randomly selected apparently healthy women ( = 262). These women were categorized as premenopausal ( = 184) and postmenopausal ( = 78). Anthropometric measurements, blood pressure, lipid profile, fasting glucose, and insulin concentrations were estimated on all the participants using standard protocols. Homeostatic model assessment of IR was computed to estimate the level of IR.

Results: Most lipid parameters, blood pressure, waist circumference, and fat percentage were significantly higher ( < 0.05) in postmenopausal women than premenopausal women. On subcategorizing women with respect to IR (<3, >3), metabolic parameters (e.g., triglyceride - 104.7 ±53.2 mg/dl, Blood Sugar Level Fasting (BSLF) - 103.3 ± 40.1 mg/dl, and fasting serum insulin - 23 ± 12.3 mIU/L) were also higher ( < 0.001) in premenopausal women having IR >3. Significantly higher low-density lipoprotein (132.7 ± 38.7 mg/dl vs. 114.4 ± 25 mg/dl) and total cholesterol (211.3 ± 40.5 vs. 184.8 ± 29.4 mg/dl) were observed in postmenopausal women with IR >3 ( < 0.05) along with higher BSLF (126.6±54.3 mg/dl**) and fasting insulin levels (22.3 ± 12.1 mIU/L) ( < 0.001).

Conclusion: This study reveals that IR may predispose women to increased cardiometabolic risk. Urgent attention needs to be focused toward metabolic health of women.
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http://dx.doi.org/10.4103/jmh.JMH_65_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362980PMC
May 2020

Endocrinological Management of Sellar and Supra-Sellar Tumors in Children.

Neurol India 2020 May-Jun;68(Supplement):S28-S32

Clinical and Research Fellow, Pediatric Endocrinology, Jehangir Hospital, Pune, Maharashtra, India.

CNS tumours and their treatment commonly lead to endocrinopathies in children. Advances in surgical techniques, chemotherapy and radiotherapy have improved the survival in children with CNS tumours however they have also added to the late effect burden. Since the pituitary and hypothalamus regulate many important bodily functions, loss in their function leads to major derangements in growth and hormonal milieu. This article is a review of clinical presentation, diagnosis and management of endocrinopathies encountered in common sellar and supra-sellar CNS tumours in children. The management is divided into mainly two sections: immediate (peri and post-operative) and long term.
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http://dx.doi.org/10.4103/0028-3886.287676DOI Listing
April 2021

Body Mass Index Quick Screening Tool for Indian Academy of Pediatrics 2015 Growth Charts.

Indian Pediatr 2020 10 12;57(10):904-906. Epub 2020 Jun 12.

Department of Growth and Pediatric Endocrine, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India. Correspondence to: Dr Anuradha Khadilkar, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharasthra, India.

Objective: To develop gender-specific graphic tool in which BMI cut offs can be read from height and weight, without need for calculating BMI and to validate the tool against Indian Academy of Pediatrics (IAP) 2015 BMI charts.

Methods: Validation of tool was performed using de-identified data on children from school health surveys.

Results: For detection of overweight and obesity, the BMI tool had sensitivity of 95.7% and specificity of 85.7% for boys, and 95.7% and 89.7% for girls, respectively. For underweight, sensitivity of 100% for boys and girls, and specificity of 88.9% for boys and 82.4% for girls was observed.

Conclusion: We present a graphic BMI tool for screening for underweight, overweight and obesity, which complements the existing IAP charts.
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October 2020

Prevalence of dyslipidemia in Indian children with poorly controlled type 1 diabetes mellitus.

Pediatr Diabetes 2020 09 8;21(6):987-994. Epub 2020 Jul 8.

Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, 411001, India.

Background: Children with type 1 diabetes having dyslipidemia are at increased risk of developing premature atherosclerosis and cardiovascular disease. The present study aims to determine the prevalence of dyslipidemia and its predictors in poorly controlled Indian children with type 1 diabetes.

Methods: The cross-sectional study included 235 children and youth (3-18 years) with type 1 diabetes having disease duration of at least 1 year. Demographic data and laboratory findings were obtained from patients' records.

Results: The prevalence of dyslipidemia in our study was 47.2% with abnormal low-density lipoprotein cholesterol being the most common lipid abnormality. Poor glycemic control and higher thyroid stimulating hormone values were important predictors of likelihood of dyslipidemia and hypertriglyceridemia. Despite a low percentage of overweight and obese children in our study, body fat percentage was a significant predictor of likelihood of high total cholesterol and abnormal high-density lipoprootein. Interestingly, 28 children under the age of 10 years were found to have dyslipidemia, which constitutes 11.9% of the total study group.

Conclusions: We found a high prevalence of dyslipidemia in children with type 1 diabetes including children under age of 10 years, which emphasize the need for early screening and regular monitoring of lipid profile in these children.
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http://dx.doi.org/10.1111/pedi.13063DOI Listing
September 2020

Distortion of dual energy X-ray images by faecal masses in a child with type 1 diabetes.

BMJ Case Rep 2020 May 21;13(5). Epub 2020 May 21.

Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, India

Dual energy X-ray absorptiometry (DXA) scanning is the most common investigating modality used to assess bone mineral density (BMD). Conditions causing tissue calcification and artefacts such as metallic objects may mislead the results of the DXA scan. We present here a case of a child with diabetes where the DXA images were distorted by faecal lumps, leading to falsely elevated BMD and an error in interpretation of the DXA scans. Our case suggests that DXA software may not, at times, differentiate between bone and other high-attenuating material within the regions of interest. Thus, DXA images should also be visually examined and verified with the numeric data before report preparation in these patients.
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http://dx.doi.org/10.1136/bcr-2020-235312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247408PMC
May 2020

Rare association of Beckwith-Wiedemann syndrome with Hirschsprung's disease in an infant with hypoglycemia.

BMJ Case Rep 2020 Apr 26;13(4). Epub 2020 Apr 26.

Department of Pediatrics, Jehangir Hospital, Pune, Maharashtra, India.

Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia. She underwent a rectal biopsy for this, which was highly suggestive of Hirschprung's disease. Following surgery, her abdominal distension and feed intolerance were settled and sugar control was improved. We present a rare association of Hirschsprung's disease with Beckwith-Wiedemann syndrome. To the best of our knowledge, this association has not been previously reported and this added to the difficulty in managing hyperinsulinemic hypoglycaemia in our patient.
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http://dx.doi.org/10.1136/bcr-2020-235121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202742PMC
April 2020

Serum Cathelicidin Concentrations in Healthy Rural Indian School Going Children.

Indian J Pediatr 2020 Oct 15;87(10):859-860. Epub 2020 Apr 15.

Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32 Sassoon Road, Pune, Maharashtra, 411 001, India.

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http://dx.doi.org/10.1007/s12098-020-03291-2DOI Listing
October 2020

Occurrence of infections in schoolchildren subsequent to supplementation with vitamin D-calcium or zinc: a randomized, double-blind, placebo-controlled trial.

Nutr Res Pract 2020 Apr 4;14(2):117-126. Epub 2019 Oct 4.

Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32, Sassoon Road, Pune - 411001, Maharashtra, India.

Background/objectives: Vitamin D and zinc are recognized for their roles in immune-modulation, and their deficiencies are suggested to be important risk factors for childhood infections. This study, therefore, undertook to assess the occurrence of infections in rural Indian schoolchildren, subsequent to daily supplementation with vitamin D-calcium or zinc for 6 months.

Materials/methods: This was a randomized, double-blind, placebo-controlled trial in apparently healthy 6-12 year-old rural Indian children, recruited to 3 study arms: vitamin D arm (1,000 IU D3 - 500 mg calcium, n = 135), zinc arm (10 mg, n = 150) and placebo arm (n = 150). The infection status was assessed using a validated questionnaire, and the biochemical parameters of serum 25(OH)D and serum zinc were measured by ELISA and colorimetry, respectively. The primary outcome variable was occurrence of infections (upper respiratory and total infections).

Results: Serum 25(OH)D concentration in the vitamin D arm improved significantly by 34%, from 59.7 ± 10.9 nmol/L to 80 ± 23.3 nmol/L ( < 0.0001), but no improvement was observed for serum zinc concentration. While there was significant increase in the percentage of children reporting no or mild upper respiratory tract infections (URTI) and total infections (TI) in all three groups, improvements in the supplemented groups were similar to the placebo group. However, the vitamin D arm reported lower URTI and TI status in the vitamin D sufficient versus insufficient children. Also, URTI and TI status were found to be significantly ( < 0.0001) lower in children with improved 25(OH)D versus unchanged 25(OH)D.

Conclusions: Vitamin D-calcium supplementation helped to improve the vitamin D status but exerts no effect on the occurrence of infections when compared to the placebo group. Improvement in the serum 25(OH)D concentrations and attainment of vitamin D sufficiency may exert a beneficial effect on the infection status and needs to be investigated further. To evaluate the efficacy of zinc supplementation, higher dosages need to be administered in future studies.
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http://dx.doi.org/10.4162/nrp.2020.14.2.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7075745PMC
April 2020

Which Growth Charts for Today's Indian Children?

Indian Pediatr 2020 02;57(2):115-116

Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32, Sassoon Road, Pune 411001.

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February 2020

Indian Growth References from 0-18-Year-Old children and Adolescents - A Comparison of Two Methods.

Indian J Endocrinol Metab 2019 Nov-Dec;23(6):635-644

Department of Pediatric Growth and Endocrine, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India.

Background And Aims: For updating growth references, large datasets are usually required; collection of these data are expensive and cumbersome. Using a combination of regression equations, Preece Baines model and global LMS values, synthetic growth references for the target population can be generated. The objective of this study is to compare growth references created from continuous anthropometric data using LMS method versus those created synthetically from anthropometric means at key ages.

Methods: De-identified data on 46421 children (26037 boys) from 0-18 years of age from several multicentric studies conducted by the authors' group (2007 to 2017) were included in this study; growth references were constructed using the LMS method. For the production of synthetic references, arithmetic means of heights and weights at key ages were used and global LMS values were used from literature.

Results: There was no difference in the medians for height, weight and BMI between the references created by the two methods. The extreme percentile values for height were similar ( < 0.05). However, the spread of values for weight and BMI was narrower in the synthetic references.

Conclusion: Growth references produced from continuous data differ from those produced synthetically using anthropometric means mainly at the extreme centiles for weight and body mass index; synthetic references take into consideration global trends over several decades.
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http://dx.doi.org/10.4103/ijem.IJEM_555_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6987783PMC
February 2020

Inter-regional differences in body proportions in Indian children and adolescents-a cross-sectional multicentric study.

Ann Hum Biol 2020 Feb 3;47(1):1-9. Epub 2020 Feb 3.

Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, India.

Sitting height (SH) and leg length (LL) help in assessing disproportionate growth. Anthropometric dissimilarity has been observed in different ethnicities. To (1) study sitting height and body proportions in children from different regions of India; and (2) compare sitting height and body proportions with data from other countries. This was a cross-sectional multicentric observational study, where 7961 (4328 boys) 3-18 year old children from five regions (north, south, east, west and central) were measured (height, weight and SH). Boys from north India and girls from central India were taller and heavier (mean height 153.2 ± 18, 146.4 ± 11), while western boys and girls were the shortest (131.1 ± 20.7, 129.8 ± 19.5) ( < 0.05 for all). The highest SH was observed in the north (79.2 ± 8.5) and the lowest in the west (68.8 ± 9.1). Mean SH:LL ratio was highest in children from the northeast (1.13) followed by those from western, northern and central India (1.12, 1.10 and 1.07, respectively) and the ratio was the least in children from south India (1.05) ( < 0.0.5 for all except northeast and west). Children from the north and west were similar to the Dutch, children from the south were similar to South (black) Africans and the north-eastern children were similar to Chinese children. There were inter-regional differences in body proportions; similarities in body proportions with children from other ethnicities may throw light on the migration history of Indian people.
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http://dx.doi.org/10.1080/03014460.2019.1698656DOI Listing
February 2020

Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.

Sex Dev 2019 1;13(4):178-186. Epub 2020 Feb 1.

Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disorders of sex development (DSD), with varying clinical phenotypes ranging from hypospadias to complete gonadal dysgenesis. Most often, the primary cause of DSD is due to variants in gene(s) related to gonadal development or the steroidogenic pathway. In the present study, we have analyzed 64 cases of 46,XY DSD for pathogenic NR5A1 variants. We report a total of 3 pathogenic variants of which 2 were novel (p.Gly22Ser and p.Ser143Asn) and 1 was already known (p.Ser32Asn). Functional studies have revealed that the 2 mutations p.Gly22Ser and p.Ser32Asn could significantly affect DNA binding and transactivation abilities. Further, these mutant proteins showed nuclear localization with aggregate formation. The third mutation, p.Ser143Asn, showed unspeckled nuclear localization and normal DNA binding, but the ability of transcriptional activation was significantly reduced. In conclusion, we recommend screening for NR5A1 pathogenic variants in individuals with features of 46,XY DSD for better diagnosis and management.
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http://dx.doi.org/10.1159/000505527DOI Listing
August 2020

A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.

Indian J Pediatr 2020 02 11;87(2):105-110. Epub 2020 Jan 11.

Molecular Genetics, GenePath Diagnostics; I-SHARE Foundation, J.M. Road, Shivajinagar, Pune, India.

Objectives: To screen for variants in the MC4R and LEP genes in 46 patients with clinical suspicion of non-syndromic early onset severe obesity (NEOSO).

Methods: Children with early onset obesity satisfying WHO criteria of obesity were studied. The MC4R and LEP genes were sequenced using a PCR amplicon based NGS on Illumina MiSeq next generation sequencer using an in-house developed protocol.

Results: Of the 46 children tested, four were found to have novel pathogenic/likely-pathogenic variants (one in the MC4R gene and three in the LEP gene). In three out of the 4 families, the presence of the variants was confirmed using standard bidirectional capillary sequencing in the probands.

Conclusions: Four children with novel likely pathogenic variants in the MC4R and LEP genes are reported. Genetic analysis is crucial in children with early onset obesity and should be considered.
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http://dx.doi.org/10.1007/s12098-019-03129-6DOI Listing
February 2020