Search

Background: Foreign bodies (FBs) in the maxillofacial region are not rare due to increasing trends of accidents and interpersonal assaults. This leads due to a steady increase in facial injuries. The management of FB starts with the development of strong clinical suspicion of the presence of FB during the initial wound examination. Face being the most appealing and esthetic part of the body, early recognition and removal of FB decrease the patient's morbidity. Further, chronic infection and recurrent surgeries can be avoided. Objectives: This retrospective study gives the clinical experience of the management of FB in the maxillofacial region in most referred tertiary care government hospital in South India. Further, the intricacies and the sequence of effective management were discussed in detail. Materials and Methods: A retrospective study was conducted in the Department of Dentistry, Government Rajaji hospital, Madurai Medical College, Tamil Nadu, India, for 5 years from 2014 to 2019 on the management of FBs in the maxillofacial region. Patient's records were analyzed for demographic data, etiology, clinical presentation, investigation, type of FB, and management. Results: Thirty-five patients were treated in the period of 5 years. Out of 35 patients, males were predominantly treated for retrieval of FB; the most common etiology is renal tubular acidosis, most of them presented early; computed tomography is the diagnostic modality used to detect most of the FB; the most common type of FB is the glass followed by wood, and the removal of FB was predominantly done under General anaesthesia (GA). Conclusion: Early recognition of FB in the maxillofacial region is important. This hastens the removal along with the management of fractures, if any without additional investigations and surgery.

Syndactyly is a condition where in two or more digits are fused together. A newborn female baby showed not only webbing of the fingers but also toes. X-ray of both hands and feet showed no bony fusion. Syndactyly is a rare anomaly that has surgical and psychological implications. Normally mesenchyme between prospective digits in hand and foot plates is removed by cell death (apoptosis) when this process fails the result is fusion between two or more digits. It occurs as one in every 2000 to 2500 births and twice as common in males. Though it is very rare it can be corrected surgically and child can live a normal life. The knowledge of digit formation and causes for abnormalities in the digits and toes are important for radiologists, obstetricians and surgeons for accurate diagnostic interpretation.

Aloe vera is a cactus like plant that actually is part of the lily family. There are more than 300 varieties of the Aloe plant, but the Aloe barbadensis variety exhibits the best medicinal properties. It has strong antiseptic, antibacterial, fungicidal and virucidal properties. It promotes cell growth and is neurologically calming and acts as a detoxifying agent. Others provide nutritional support and some increase the regenerative potential of tissues while others act with anti-inflammatory responses. This article reviews the uses of the plant in different fields of medicine and dentistry.

Background: Foreign bodies (FBs) in the maxillofacial region are not rare due to increasing trends of accidents and interpersonal assaults. This leads due to a steady increase in facial injuries. The management of FB starts with the development of strong clinical suspicion of the presence of FB during the initial wound examination. Face being the most appealing and esthetic part of the body, early recognition and removal of FB decrease the patient's morbidity. Further, chronic infection and recurrent surgeries can be avoided. Objectives: This retrospective study gives the clinical experience of the management of FB in the maxillofacial region in most referred tertiary care government hospital in South India. Further, the intricacies and the sequence of effective management were discussed in detail. Materials and Methods: A retrospective study was conducted in the Department of Dentistry, Government Rajaji hospital, Madurai Medical College, Tamil Nadu, India, for 5 years from 2014 to 2019 on the management of FBs in the maxillofacial region. Patient's records were analyzed for demographic data, etiology, clinical presentation, investigation, type of FB, and management. Results: Thirty-five patients were treated in the period of 5 years. Out of 35 patients, males were predominantly treated for retrieval of FB; the most common etiology is renal tubular acidosis, most of them presented early; computed tomography is the diagnostic modality used to detect most of the FB; the most common type of FB is the glass followed by wood, and the removal of FB was predominantly done under General anaesthesia (GA). Conclusion: Early recognition of FB in the maxillofacial region is important. This hastens the removal along with the management of fractures, if any without additional investigations and surgery. [ABSTRACT FROM AUTHOR]

Background: Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability. Newborn screening (NBS) for CH has been in vogue in many parts of the world since 1970, but despite its well-known benefits, many developing countries including India have not been able to establish universal NBS for CH till date., Objective: The aim of this study was to review the clinical aspects of congenital hypothyroidism in a tertiary care university referral teaching hospital, focusing on aetiology of CH, predictors of permanence, optimal targeted dose strategies based on aetiology and the effect of newborn screening on the time to diagnosis., Material and Methods: The electronic medical records of 233 children with CH referred to our centre between January 2009 and December 2019 were analysed. A partial NBS was established in the state in 2012., Results: Dyshormonogenesis (57.5%) was the most common aetiology of CH. The incidence of transient CH in children with a gland in situ (GIS) was 35%. Levothyroxine (LT-4) dose of >2.75 μg/kg/day (sensitivity 76.5, specificity 72), >2.15 μg/kg/day (sensitivity 82.4, specificity 61.9) and >1.85 μg/kg/day (sensitivity 76.5, specificity 61.9) at years 1, 2 and 3, respectively, were predictors of permanent CH. An initial LT-4 dose ≥8 μg/kg was sufficient and very seldom led to undertreatment in children with dyshormonogenesis. On the contrary, even doses ≥13 mcg/kg/day led to frequent undertreatment in children with thyroid dysgenesis. After the introduction of newborn screening, the median age at diagnosis came down from 45 days (IQR 14-180 days) to ten days (IQR 3-12 days)., Conclusion: Targeted dosing based on aetiology of CH may be more appropriate to optimise outcomes. The time to diagnosis of CH reduced significantly after the adoption of even a partial NBS program highlighting the urgent need for implementation of the same in resource poor settings., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Indian Journal of Endocrinology and Metabolism.)

Purpose: Genotyping of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is becoming increasingly significant beyond prenatal counseling in the current era of emerging gene therapy/editing technologies. While the knowledge of common variants helps in designing cost-effective genotyping strategies, limited data are currently available from the Indian subcontinent, especially South India, mainly due to financial constraints. The aim of this study is to assess the genotype of individuals with classic CAH from a South Indian cohort in a cost-effective manner., Methods: The genotypes of 46 unrelated subjects with classic CAH were studied through initial multiplex ligation-dependent probe amplification (MLPA) using the SALSA MLPA Probe-mix P050 CAH (MRC Holland). Next-generation sequencing (NGS) was done in 10 subjects, as their MLPA was either negative or showed heterozygous variants., Results: The common variants observed in our study population of 46 subjects were large deletions (35.8%), intron 2 variant [c.293-13A/C > G] (35.8%), 8 bp del [c.332_339del p.(Gly111Valfs*21)] (7.7%), and R356W [c.1069 C > T p.(Arg357Trp)] (6.6%). MLPA alone detected pathogenic variants in 78.2% of the initial study samples (36/46). Sequential NGS resulted in a 100% detection rate in our study population., Conclusion: MLPA appears to be an effective first genotyping modality for this South Indian cohort due to the high prevalence of large deletions and common variants. MLPA as a first initial screening genotyping test with sequential NGS when required may be a cost-effective and highly sensitive approach to CYP21A2 genotyping in our part of the world and in resource-poor settings., (© 2023. The Author(s), under exclusive licence to Hellenic Endocrine Society.)

Introduction: Differentiated thyroid carcinoma/cancer (DTC) burden in developing countries could be different from that of the developed nations., Aims and Objectives: To describe the clinicopathological characteristics in a cohort of DTC patients in a south Indian state of Kerala and to compare with the data from other centres., Materials and Methods: A retrospective analysis of the data collected on DTC patients, from January 2010 to August 2018, attending thyroid cancer clinic at a tertiary care centre., Results: mong the 944 patients (male 262; female 682; mean age 43.8 years; standard deviation, SD 13.8), types of tumour were as follows: classical papillary thyroid carcinoma (cPTC) 48.3%, follicular variants of PTC (FVPTC) 28.8%, follicular and hurthle cell carcinoma (FTC&HCC) 10.1%. Mean size of the tumour was 2.7 cm (SD 1.8) papillary thyroid micro carcinomas (PTMC) were seen in 113 patients (12%), which were detected incidentally. Metastases were present at diagnosis in 40.2% cases, most common site being cervical lymph nodes. Distant metastases were seen in 113 patients (14.5%) and commonest site was bone. The American Thyroid Association (ATA) risk stratification was possible only in 684 subjects and showed 31.3% low risk, 41.8% intermediate risk and 26.9% at high-risk category. Lymph node metastasis and distant metastasis were the commonest determining factors for intermediate and high-risk category, respectively. High-risk category was significantly higher in patients >55 years, tumour size >4 cm, FTC/HCC tumour type and extranodal extension (ENE) of lymph node metastasis. Radio active iodine ablation was given to 85.2% subjects., Conclusion: In our DTC population, FVPTC formed the second most common type and PTMC were all incidentalomas. Metastasis at diagnosis was higher suggesting delayed presentation. Old age, FTC/HCC, large size of the tumour, ENE were significantly higher in high-risk patients. Rest of the features of these cohort was comparable with the United States cohort of DTC patients., Competing Interests: There are no conflicts of interest, (Copyright: © 2022 Indian Journal of Endocrinology and Metabolism.)

Purpose: To screen for maturity-onset diabetes of the young (MODY) variants in subjects with an early age of onset and positive family history of diabetes mellitus., Methods: 60 subjects with onset of diabetes between 3 and 30 years of age and parental history (onset < 35 years) of diabetes were recruited after excluding autoimmune, pancreatic and syndromic forms of diabetes. Detailed pedigree chart and clinical data were recorded. MODY genetic testing (MODY 1-13) was performed and variant classification was done adhering to the ACMG guidelines., Results: Baseline characteristics of subjects were as follows: mean age of onset of diabetes 19.9 ± 7 years, mean duration of diabetes 6.3 ± 6.8 years, BMI 23.3 ± 3 kg/m 2 and C-peptide 1.56 ± 1.06 nmol/l. Four out of sixty (6.6%) were positive for variants classifiable as pathogenic/likely pathogenic: one patient with HNF4Ac.691C > T, (p.Arg231Trp), two with HNF 1A c.746C > A(p.Ser249Ter) and c.1340C > T(p.Pro447Leu), and one with ABCC8 c.4544C > T (p.Thr1515Met). MODY 1 and MODY 3 variants were documented in the paediatric age group (< 18 years)., Conclusion: A genetic diagnosis of MODY could be confirmed in only 6.6% (4/60) of patients clinically classifiable as MODY. This is less than that reported in clinically diagnosed MODY subjects of European descent. Newly published population data and more stringent criteria for assessment of pathogenicity and younger age of onset of type 2 diabetes in Indians could have contributed to the lower genetic confirmation rate. Apart from variants in the classical genes (HNF1A, HNF4A), a likely pathogenic variant in a non-classical gene (ABCC8) was noted in this study., (© 2021. Italian Society of Endocrinology (SIE).)

Sonic hedgehog (Shh) signaling regulates multiple morphogenetic processes during embryonic neurogenesis and craniofacial skeletal development. Gpr161 is a known negative regulator of Shh signaling. Nullizygous Gpr161 mice are embryonic lethal, presenting with structural defects involving the neural tube and the craniofacies. However, the lineage specific role of Gpr161 in later embryonic development has not been thoroughly investigated. We studied the Wnt1-Cre lineage specific role of Gpr161 during mouse embryonic development. We observed three major gross morphological phenotypes in Gpr161 cKO ( Gpr161 f/f; Wnt1-Cre ) fetuses; protrusive tectum defect, encephalocele, and craniofacial skeletal defect. The overall midbrain tissues were expanded and cell proliferation in ventricular zones of midbrain was increased in Gpr161 cKO fetuses, suggesting that protrusive tectal defects in Gpr161 cKO are secondary to the increased proliferation of midbrain neural progenitor cells. Shh signaling activity as well as upstream Wnt signaling activity were increased in midbrain tissues of Gpr161 cKO fetuses. RNA sequencing further suggested that genes in the Shh, Wnt, Fgf and Notch signaling pathways were differentially regulated in the midbrain of Gpr161 cKO fetuses. Finally, we determined that cranial neural crest derived craniofacial bone formation was significantly inhibited in Gpr161 cKO fetuses, which partly explains the development of encephalocele. Our results suggest that Gpr161 plays a distinct role in midbrain development and in the formation of the craniofacial skeleton during mouse embryogenesis., Competing Interests: RF formerly held a leadership position in the now defunct TeratOmic Consulting LLC. He also receives travel funds from the journal Reproductive and Developmental Medicine to attend quarterly editorial board meetings. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Kim, Robles-Lopez, Cao, Liu, Chothani, Bhavani, Rahman, Mukhopadhyay, Wlodarczyk and Finnell.)

Using the FRAX® model for India, thresholds for osteoporosis evaluation and treatment without bone mineral density measurement were derived and were validated in a cohort of 300 patients. We suggest the use of this newer age and ethnic-specific FRAX®-derived thresholds for management of osteoporosis in India., Purpose: Our study aimed to formulate population-specific intervention thresholds for treatment of osteoporosis in India which can be used even without dual X-ray absorptiometry (DXA)., Methods: Using the FRAX® model for India, thresholds for different age groups for men and women were calculated without bone mineral density (BMD) measurement. The lower assessment threshold (LAT) was based on the 10-year probability of a major osteoporosis fracture (MOF) or hip fracture (HF) equivalent to patients without clinical risk factors. The intervention threshold (IT) was based on the 10-year probability equivalent to patients with fracture. The upper assessment threshold (UAT) was set at 1.2 times the IT. Probability-based thresholds for no intervention (LAT), treatment initiation (UAT) and BMD assessment (between LAT and UAT) were derived. The thresholds were validated in a cohort of 300 patients who were referred for BMD testing., Results: Graphs for age, gender, BMI and ethnic-specific LAT, IT and UAT for MOF and HF are derived. In the validation cohort, BMD testing to initiate/defer treatment was required in only 32.3% patients. The intervention thresholds derived without BMD testing were valid in 98.7% patients. Use of National Osteoporosis Foundation (NOF) guidelines would have resulted in overtreatment in 56/300 (18.6%) patients., Conclusion: We suggest the use of this newer age and ethnic-specific FRAX®-derived thresholds for management of osteoporosis. Adopting these cut-offs will ensure that those requiring osteoporosis treatment will not be denied of it just because of lack of a DXA machine and will also help avoid overtreatment.

Introduction: Myxedema coma is an endocrine emergency with a very high mortality rate. As per the American Thyroid Association, initial thyroid hormone replacement for myxedema coma should be intravenous levothyroxine (LT4). However, in India, the availability of intravenous LT4 is limited. Often, crushed LT4 tablets are given through the enteral route when parenteral therapy is unavailable. No data or protocol is available for the administration of oral LT4 in myxedema coma. The aim of this study was to assess the effectiveness of oral LT4 in patients diagnosed with myxedema coma and to formulate a protocol for oral LT4 that can be used to guide the treatment of patients when intravenous LT4 is unavailable., Methods: This retrospective observational study included patients diagnosed with myxedema coma between January 2010 and December 2019. The diagnosis of myxedema coma was based on the diagnostic scoring system for myxedema coma proposed by Popoveniuc et al. [Endocr Pract. 2014 Aug;20(8):808-17]. Dosing of oral LT4 was decided as per our institutional protocol., Results: Fourteen patients (11 males and 3 females) with a median age of 67.5 years (range 11-82) with myxedema coma were included. All patients had central nervous system manifestations, and sepsis was the most common precipitating factor. The median myxedema score was 72.5 (normal ≤25), and the median length of hospital stay was 12 days (range 3-18). The oral LT4 regimen consisted of a loading dose of 300-500 μg, followed by taper over the next 3-5 days. With this regimen, 13 patients survived, and only 1 patient died., Conclusion: Oral LT4 is an effective treatment option for myxedema coma when intravenous LT4 is unavailable., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2020 by European Thyroid Association Published by S. Karger AG, Basel.)

Background: To study the health-related quality of life (HRQoL) in pediatric onset Type 1 diabetes mellitus (TIDM) in the state of Kerala in India., Methods: Diabetes specific HRQoL was determined in 107 subjects with onset of T1DM less than 21 years using the Pediatric Quality of Life Inventory (PedsQL) 3.2 questionnaire of which 69 also completed the PedsQL 4.0 generic questionnaire. The parents of these patients completed the proxy scoring questionnaire. The generic HRQoL of T1DM was compared with control population without diabetes., Results: Mean age of onset of T1DM was 8.2 ± 4.6 years and mean duration was 8.2 ± 5.6 years. The median HbA1c was 8.7% (72 mmol/mol). Microvascular complications were present in 14.9% of the patients. The generic HRQoL was lower in patients with T1DM compared to peers without diabetes (77.43 vs. 87.45; p < 0.001). Parents reported lower scores in diabetes management, treatment barriers, physical functioning and generic scales compared to patients. Parents reported greater worry about the disease with lesser age of onset of diabetes and with presence of complications. Those using insulin vials and on splitmix regimen had lower HRQoL compared to those using insulin pens. The patients belonging to lower socioeconomic status (SES) reported lower diabetes scores (73.7 vs. 58.7; p = 0.015)., Conclusions: The generic HRQoL was lower in children with T1DM compared to peers without diabetes. Parents and children had different perception about HRQoL in many aspects. The diabetes specific scores were lower in those belonging to lower SES., (© 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.)

Monogenic forms of diabetes in children are frequently misclassified as either type 1 diabetes or young-onset type 2 diabetes. There is a paucity of literature regarding pediatric monogenic diabetes in the Indian population. A retrospective analysis of case records of 37 children with monogenic diabetes who were diagnosed between 2008 and 2019 in a South Indian tertiary care center was performed. The write-up describes the clinical, biochemical, and genetic characterization of these patients with the diagnoses of neonatal diabetes mellitus (15 patients), MODY (five patients), and various forms of syndromic diabetes (13 with Wolfram syndrome, two with H syndrome, one with mitochondrial diabetes, and one with thiamine responsive megaloblastic anemia)., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Context: Medullary thyroid carcinoma (MTC), being an aggressive disease, requires meticulous follow-up and multidisciplinary management. The clinical presentation, management, outcome of MTC varies among different populations., Aims: An audit was conducted to evaluate the demography, clinical presentation, management, and outcome of MTC in a tertiary care center in South India., Settings and Design: A retrospective analysis was conducted of data from hospital records of patients with MTC treated at our center from 2004 to 2019., Statistical Analysis: All analyses were performed with SPSS software (version 16)., Results: Among the 82 patients (M 42, F 40), mean age was 42.07 years (SD 14.5), 46 were operated at our center and 36, outside. Follow-up data were not available for all patients. Median duration of the disease was 36 months and median follow-up was 28 months. Lymphnode dissection was more common (37/46) in patients operated at our center than outside operated patients (17/36) ( P < 0.01). At presentation, more than half of the patients had stage IV disease and 8 had distant metastases. Bone, lung, and liver were the common sites of metastases. Persistent hypercalcitoninemia >50 pg/mL was seen in 49.9%. Salvage surgeries of the neck were necessary in 29 patients (38.2%). Mean survival was 66 months and 10-year survival was 35%. Male gender ( P = 0.008) and Stage IV disease at presentation ( P = 0.038) were associated with poorer survival., Conclusion: MTC, in our population, presented at an advanced stage. Male gender and stage IV at presentation had poor survival. Early diagnosis, aggressive initial neck clearance, close follow-up with tumor markers, appropriate imaging, along with prompt surgical intervention will help to improve outcome., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Indian Journal of Endocrinology and Metabolism.)

DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle control, are essential for the rapid proliferation of neural progenitor cells. To date, the potential association between specific DDR genes and the risk of human neural tube defects (NTDs) has not been investigated. Using whole-genome sequencing and targeted sequencing, we identified significant enrichment of rare deleterious RAD9B variants in spina bifida cases compared to controls (8/409 vs. 0/298; p = .0241). Among the eight identified variants, the two frameshift mutants and p.Gln146Glu affected RAD9B nuclear localization. The two frameshift mutants also decreased the protein level of RAD9B. p.Ser354Gly, as well as the two frameshifts, affected the cell proliferation rate. Finally, p.Ser354Gly, p.Ser10Gly, p.Ile112Met, p.Gln146Glu, and the two frameshift variants showed a decreased ability for activating JNK phosphorylation. RAD9B knockdowns in human embryonic stem cells profoundly affected early differentiation through impairing PAX6 and OCT4 expression. RAD9B deficiency impeded in vitro formation of neural organoids, a 3D cell culture model for human neural development. Furthermore, the RNA-seq data revealed that loss of RAD9B dysregulates cell adhesion genes during organoid formation. These results represent the first demonstration of a DDR gene as an NTD risk factor in humans., (© 2020 Wiley Periodicals, Inc.)

Context: Insulin autoantibody syndrome (IAAS) is considered to be a rare cause of hyperinsulinaemic hypoglycaemia. Lack of familiarity with the varied clinical manifestations leads to underdiagnosis. Localization techniques aimed at insulin-secreting neoplasms and nesidioblastosis, which are expensive often are ordered when the correct diagnosis is not made., Aims: We describe the myriad of clinical manifestations associated with IAAS based on single centre experience., Settings and Design: Retrospective analysis of patients who got admitted with symptoms suggestive of hypoglycaemia and underwent mixed meal test and prolonged hypoglycaemic test from 2016 to 2019., Subjects and Methods: Retrospective data of 12 patients with IAAS who were diagnosed in the threeyear time period between 2016 and 2019 are included in this analysis. Clinical details, biochemical parameters and imaging modalities were analysed., Statistical Analysis: All analyses were performed with SPSS software (version 17)., Results: Total of twelve patients 12 (5 male and 7 females) were identified as IAAS. Median age of presentation was 57 years. Median insulin levels and median C-peptide levels were 300 miu/ml and 18.5 ng/ml respectively. Only 3 (25%) patients had spontaneous resolution. Steroid induced remission occurred by 3 months in the remaining patients. Intermittent hyperglycaemia was seen in 9 (75%) patients. Implicatable drug use preceding the occurrence of the clinical symptoms was observed in five patients., Conclusion: IAAS is not uncommon in India. The diagnosis should be pursued in patients with hyperinsulinaemic hypoglycaemia especially when insulin levels are very high or when there is intermittent hyperglycaemia., Competing Interests: There are no conflicts of interest., (Copyright: © 2019 Indian Journal of Endocrinology and Metabolism.)

Background X-linked adrenal hypoplasia congenita (AHC), due to mutations in the nuclear receptor superfamily 0, group B, member 1 (NR0B1)/dosage-sensitive sex reversal, AHC, critical region on the X chromosome, gene 1 (DAX1) gene, usually presents with a salt-wasting adrenal crisis in infancy and hypogonadotropic hypogonadism (HH) in adolescents. Genetic reports in the literature from patients of diverse ethnicity are limited. We describe the atypical clinical characteristics and molecular genetic results in six Indian patients. Methods Both exons and flanking intronic sequences of the NR0B1 gene were amplified and sequenced in five patients. In the sixth patient, suspected to have a large deletion, multiplex ligation-dependent probe amplification (MLPA) and chromosomal microarray analysis were performed. Results Sequencing revealed three novel mutations: a nonsense mutation (c.776C > A), a deletion (c.298del), both causing loss of domains which are highly conserved among nuclear receptor families, and a missense mutation (c.1112T > C). In-silico analysis by structure-based protein modeling predicted a de-stabilizing effect of the novel missense mutation. Two previously reported mutations were seen in patients with atypical manifestations such as late-onset adrenal insufficiency and precocious puberty. One patient had a 7.15-Mb contiguous deletion involving the NR0B1, Duchenne muscular dystrophy (DMD), glycerol kinase (GK) and melanoma antigen, family B, 16 (MAGEB16) genes. Conclusions Our report emphasizes the wide clinical spectrum of AHC, including rare manifestations, and enumerates unique mutations in the NR0B1 gene.

Background The present study was designed to evaluate the metabolic profile, cardiovascular risk factors and quality of life in children with congenital adrenal hyperplasia (CAH) and compare it with age- and sex-matched controls. Methods Fifty-two patients aged 3-21 years with classic CAH due to 21-hydroxylase deficiency were included in the study. Metabolic profiling was done for 36 cases and compared with 28 healthy age- and sex-matched controls. Quality of life was assessed in all 52 children and their parents using a validated Pediatric Quality of Life Inventory (PedsQL) questionnaire and was compared with normative data from the same population. Results The median age was 12 years with 14 (27%) males and 38 (73%) females. Out of the total 52 patients, 35 (67%) had salt wasting and 17 (33%) had simple virilising CAH. The median height standard deviation score (SDS) of cases was similar to that of controls (-0.72 vs. -0.64, p = 0.57) and 81% of females had normal pubertal status indicating a good control of the disease. Weight SDS, body mass index (BMI) SDS, mean diastolic blood pressure and insulin resistance were significantly higher in cases when compared to controls (0.31 vs. -0.3; 0.96 vs. 0.17; 67.8 ± 10.49 vs. 61 ± 8.49 and 2.1 vs. 0.95, respectively). The quality of life was significantly reduced in all domains as per parents' perspective, whereas the children reported reduced quality of social and school functioning. There was no significant correlation between quality of life and metabolic parameters. Conclusions Children with CAH despite a reasonably good control of the disease have a higher cardiovascular risk and reduced quality of life when compared to healthy controls.

Introduction: Atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) of The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) has emerged as the most controversial category because of its heterogeneity and inconsistent reporting. There is a definite paucity in data available from the Indian subcontinent about the outcome of nodules carrying Bethesda category III or Bethesda category IV diagnoses., Aims and Objectives: The primary objective of our study was to determine the malignancy rate in Bethesda categories III and IV nodules. The secondary objectives were to determine predictive value of BRAF V600E mutation analysis on indeterminate thyroid nodules, predictive value of Thyroid image reporting and data system (TI-RADS) in malignancy prediction and to study the common histological variants in indeterminate nodules., Materials and Methods: This prospective study included 176 consecutive nodules of Bethesda categories III and IV, diagnosed over a period of 2 years from August 2015 to August 2017. A part of the fine needle aspirate was used to perform the BRAFV600E mutation analysis. The malignancy risk associated with these Fine needle aspiration Cytology categories were discussed with the patients. Those with Bethesda category IV diagnosis was advised surgery, whereas those with Bethesda category III were given the options of close follow-up with repeat FNA in 3 months or immediate surgery., Results: In our prospective study, there were 176 consecutive samples of categories III (140/79.5%) and IV (36/20.5%). Seventy-five (53.6%) category III nodules and 29 (80.6%) category IV nodules underwent immediate surgical excision. Fifty-five consecutive indeterminate cytology nodules were subjected for BRAF V600E . One of the samples was found to be positive for BRAF T1799A (V600E) mutation. The second sample harboured a missense mutation at position 1819 (TCC--GCC), wherein the codon 607 (TCC) coding for serine was substituted by alanine (GCC) which is a variant of unknown significance. In our study, the malignancy rate of Bethesda categories III and IV, which were triaged for immediate surgery were 54.6% and 72.4%, respectively., Conclusion: Malignancy rate in Category III at our center was much higher than that described by ATA and by other studies published from centers around the world, including the only two studies from India. In view of the strikingly high malignancy rate in these indeterminate nodules, strong consideration to surgery should be given to patients with FNA results suggesting these two categories. BRAFV600E mutation analysis in FNA specimen has limited utility in improving the preoperative diagnostic rate for malignancy., Competing Interests: There are no conflicts of interest., (Copyright: © 2019 Indian Journal of Endocrinology and Metabolism.)

Background: Klinefelter syndrome (KFS) is the commonest chromosomal abnormality, yet remains largely underdiagnosed due to its varied clinical presentation. This study was done to understand the clinical spectrum in our population., Aim: We intended to study the clinical characteristics of children and adults with KFS in our population. We also desired to identify any special features of Klinefelter variants., Methods: Forty-four patients with karyotype diagnosis of KFS during the time period 2007-2015 were included in this retrospective study. Clinical details and hormonal profile were obtained from hospital information system., Results: Our study population consisted of 17 (38.6%) participants in pediatric age group (age <18 years) and 27 (61.4%) adults. Clinical presentation prompting evaluation in the former group included cardiac anomalies (29.4%), dysmorphism (23.5%), hypogonadism (17.6%), developmental delay (11.8%), tall stature (11.8%), and cryptorchidism (5.9%). Among adults, 16 (59.2%) presented with hypogonadism and 9 (20.4%) had primary infertility. Six children (35.3%) had micropenis and four (three children, one adult) had unilateral undescended testis. Behavioral problems were detected in 19 (43.2%) subjects. Mean follicle stimulating hormone (FSH) and luteinizing hormone (LH) values were 38 IU/mL and 18 IU/mL, respectively. The classical 47 XXY karyotype was detected in 38 (86.4%) subjects and 6 (13.6%) had karyotype consistent with Klinefelter variants., Conclusion: KFS was diagnosed only after 18 years of age in two-thirds of patients. Developmental delay, cardiac anomalies, behavioral abnormalities, and intellectual disabilities were the common presentations in pediatric subjects. Adults predominantly presented with hypogonadism. Individuals with Klinefelter variant karyotype sought medical attention predominantly for non-gonadal concerns., Competing Interests: There are no conflicts of interest.