Etiological Profile, Targeted Levothyroxine Dosing and Impact of Partial Newborn Screening in Congenital Hypothyroidism-A Single Centre Experience.

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.

Biomarkers for Early Detection of Charcot Arthropathy: A Prospective Study on Type 2 Diabetes Patients with Severe Neuropathy.

Background: Charcot arthropathy (CA) is a progressive noninfectious inflammatory disease that causes irreversible destruction to pedal architecture in diabetic neuropathy (DN) patients. The debilitating prognosis demands early detection to prevent the development and progression of this disorder. Dysregulated and persistent production of inflammatory cytokines is reported as the key element in initiating osteoclastogenesis in CA.

Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).

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.

FRAX-based osteoporosis treatment guidelines for resource-poor settings in India.

Unlabelled: 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).

Oral Levothyroxine is an Effective Option for Myxedema Coma: A Single-Centre Experience.

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.

Health related quality of life in pediatric onset Type 1 diabetes mellitus in Kerala, India.

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.

Clinical Profile of Medullary Thyroid Carcinoma: Audit from a Tertiary Care Center in South India.

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.

Hypophysitis in granulomatosis with polyangiitis: rare presentation of a multisystem disease.

Granulomatosis with polyangiitis (GPA) is a type of granulomatous vasculitis that can involve any organ in the body. The pituitary gland is one of the uncommon sites to be involved in this condition, with only a few cases reported in the literature. Our patient initially presented with central diabetes insipidus, epistaxis and haematuria.

Monogenic diabetes: A single center experience from South India.

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.

Novel Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

Context: The steroidogenic enzyme aromatase (CYP19A1) is required for estrogen biosynthesis from androgen precursors in the ovary and extragonadal tissues. The role of aromatase, and thus estrogens, is best illustrated by genetic variations of the gene leading to aromatase deficiency or excess.

Objective: The objective of this work is to characterize novel variants.

Performance of ATA Risk Stratification Systems, Response to Therapy, and Outcome in an Indian Cohort of Differentiated Thyroid Carcinoma Patients: A Retrospective Study.

Introduction: For better individualized management of differentiated thyroid carcinoma (DTC), ATA risk stratification systems (RSS) of 2009 and 2015 as well as a response to therapy re-classification (ATA RTR-2015) are used worldwide for assessing risk of recurrence. But there are no validation studies of these systems from the Indian subcontinent.

Objectives: To compare ATA RSS-2009, ATA RSS-2015, and ATA RTR-2015 for their accuracy in predicting outcome in DTC patients.

Insulin Autoantibody Syndrome: Varying Clinical Presentations and Response Patterns of an Underrecognized Entity.

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.

Prospective Study of Bethesda Categories III and IV Thyroid Nodules: Outcomes and Predictive Value of BRAF Mutation.

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.

Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia.

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.

Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.

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.

Klinefelter Syndrome: Clinical Spectrum Based on 44 Consecutive Cases from a South Indian Tertiary Care Center.

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.

Outcomes of Bilateral Adrenalectomy in Cushing's Syndrome.

Context: The literature on outcomes of bilateral adrenalectomy (BADx) in Cushing's syndrome (CS) is scant.

Aims: The aim of this study is to analyze the short- and long-term outcomes of patients who underwent BADx and to compare the outcomes among different etiologies of CS.

Settings And Design: This is a retrospective analysis of patients who underwent BADx for CS at our center between 2005 and 2018.

Role of Procalcitonin as a Predictor of Clinical Outcome in Acute Diabetic Foot Infections: A Prospective Study.

Background: Prediction of outcome in diabetic foot infection (DFI) remains difficult due to lack of active signs of infection, and apparently normal white blood cell (WBC) count. Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) have been studied previously in this regard and were not useful. Hence, we evaluated procalcitonin (PCT) as a prognostic marker in this study.

Treatment outcomes in pediatric differentiated thyroid carcinoma.

Background Until the American Thyroid Association (ATA) guidelines on management of pediatric differentiated thyroid carcinoma (DTC) became available in 2015, all children with DTC were treated like adults. This study aims to investigate the outcome of pediatric DTC and factors predicting the response to therapy in pediatric DTC managed according to adult guidelines. Methods Clinical records of 41 children less than 18 years of age diagnosed with DTC followed from 2007 in a single center were reviewed.

A Comparison of Clinicopathological Characteristics and Short-Term Outcome of Papillary Thyroid Carcinoma with Tall Cell Histology and Classic Papillary Thyroid Carcinoma: A Single-Institution Experience.

Context: Papillary thyroid carcinoma with tall cell histology (PTC-TCH) is an aggressive subtype in terms of clinicopathological features and outcome. Even 10% of tall cells can show aggressive features.

Aims: The aim of this study is to investigate the behavior of PTC-TCH, to compare with classic PTC (cPTC), and evaluate the short-term outcome.

Disorders of Water Balance Following Sellar and Suprasellar Surgeries: Patterns, Determinants and Utility of Quantitative Analysis.

Background And Objective: The primary objective of this study was to evaluate the application of principles of quantitative analysis to assess disorders of water balance following surgeries for sellar and suprasellar masses and also to investigate potential factors influencing the occurrence and course of these disorders.

Materials And Methods: A total of 36 consecutive adult patients who underwent surgery for sellar and suprasellar masses between 2014 and 2015 were prospectively followed up in this observational study. Twenty-one patients had complete laboratory parameter records for quantitative analysis.

Radiofrequency Ablation Followed by Percutaneous Ethanol Ablation Leading to Long-Term Remission of Hyperparathyroidism.

A 30-year-old male with cerebral palsy and motor impairment presented with right femur fracture. He had gradually worsening mobility and contractures of all extremities for the preceding 5 years. Evaluation showed multiple vertebral and femoral fractures, severe osteoporosis, a large parathyroid adenoma, and parathormone (PTH) exceeding 2500 pg/mL.

Utility of Gallium-68 DOTANOC PET/CT in the localization of Tumour-induced osteomalacia.

Background: Tumour-induced osteomalacia (TIO) is a rare disorder characterized by hypophosphataemic osteomalacia caused by small mesenchymal tumours secreting fibroblast growth factor 23 (FGF 23). The most difficult part in the management of these patients is the localization of tumours causing TIO.

Objective: We describe the utility of Gallium (Ga)-68 DOTANOC PET/CT in the localization of tumours causing TIO.