Characterisation of islet antibody-negative type 1 diabetes mellitus in Indian children.

Aims: Islet antibody-negative type 1 diabetes mellitus (T1DM) has not been well characterised. We determined the frequency of antibody-negative T1DM and compared it with antibody-positive T1DM in a cohort of north Indian children.

Methods: In a multi-centre, prospective, observational study, 176 Indian children (age 1-18 years) were assessed within 2 weeks of diagnosis of T1DM.

Beyond HbA1c: Identifying Gaps in Glycemic Control Among Children and Young People with Type 1 Diabetes Using Continuous Glucose Monitoring.

Objectives: To describe continuous glucose monitoring (CGM) derived glycemic variables, and study their association with HbA1c and socio-economic factors in young people with Type 1 diabetes mellitus (T1DM).

Methods: Ninety-two participants [age 15.7 ± 5.

Novel Mutation in Causing Vitamin D-Dependent Rickets Type 1b.

Monogenic forms of rickets are being increasingly recognized. However, vitamin D-dependent rickets 1b (VDDR1b) due to gene mutation is exceedingly rare. We report a 4.

Clinico-pathologic profile and outcomes of pediatric endocrine patients managed by endocrine surgeons: Experience over three decades in a tertiary center in India.

Background: Pediatric endocrine disorders requiring surgical intervention are rare and so are experienced surgeons dealing with these. The aim of the current study was to investigate disease profile and perioperative outcome of pediatric patients with surgical endocrine disorders in an endocrine surgery unit.

Methods: This retrospective study (Sep 1989-Aug 2019) consisted of pediatric endocrine surgery patients (<18 years) who were managed by a team of pediatric endocrinologists and endocrine surgeons at our center.

School-time Hyperglycemia and Prolonged Night-Time Hypoglycemia on Continuous Glucose Monitoring in Children With Type 1 Diabetes.

Objective: To document glycemic patterns during school and sleep by continuous glucose monitoring system (CGMS) in school-going children with type 1 diabetes. To correlate glycemia with meal composition.

Methods: Patients with type 1 diabetes (n = 22) aged 4 to 19 years were enrolled.

Basic carbohydrate counting and glycemia in young people with type 1 diabetes in India: A randomized controlled trial.

Objectives: The aim of this study was to evaluate the effect on glycemic control and acceptability of basic carbohydrate counting (BCC) in children and young adults with type 1 diabetes (T1DM).

Methods: Ninety-two children and young adults (6-25 y of age) with T1DM were randomized to receive either routine nutrition education (RNE), which addressed food groups, glycemic index, and effects of food and exercise on glycemia, or learn BCC with personalized portion size education. A continuous glucose monitoring study and glycosylated hemoglobin (HbA1c) were performed at baseline and after 12 wk.

High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.

Background: While the frequency of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) is reported to be increased in Indian children, its aetiology has not been studied. We investigated the role of monogenic diabetes in the causation of islet antibody-negative T1DM.

Methods: We conducted a multicenter, prospective, observational study of 169 Indian children (age 1-18 years) with recent-onset T1DM.

Prevalence of polycystic ovary syndrome and its clinical and hormonal profile in young females with type 1 diabetes mellitus: experience from a teaching institution of India.

Objective: To investigate the prevalence of polycystic ovary syndrome and its clinical and hormonal profile in females with type 1 diabetes.

Materials And Methods: 65 T1DM females were evaluated for presence of PCOS by Rotterdam ESHRE/ASRM consensus criteria and compared with age and BMI matched females with PCOS without diabetes and females with T1DM without PCOS.

Results: According to Rotterdam criteria 18/65 (27%) had PCOS.

Association of hyperglycaemia at-admission & diabetes mellitus with 28 day mortality in patients admitted with moderate-severe SARS-CoV-2 infection: A retrospective study.

Background & Objectives: The association between hyperglycaemia at admission, diabetes mellitus (DM) status and mortality in hospitalized SARS-CoV-2 infected patients is not clear. The purpose of this study was to determine the relationship between DM, at-admission hyperglycaemia and 28 day mortality in patients admitted with moderate-severe SARS-CoV-2 infection requiring intensive care.

Methods: All consecutive moderate-to-severe patients with SARS-CoV-2 infection admitted to the intensive care units (ICUs) over six months were enrolled in this single-centre, retrospective study.

Bronchial Carcinoid Tumor in an Adolescent Female: Diagnosis and Management by a Multi-Disciplinary Team.

Bronchial carcinoid is the most common primary malignant lung tumor in children; however, it remains a very rare diagnosis due to the overall low incidence of childhood lung malignancies. We report a case of a 17-year-old girl with respiratory symptoms who was initially misdiagnosed as a case of COVID pneumonia. She was later detected to have a right mainstem bronchial carcinoid which was managed successfully by a multi-disciplinary team.

ISPAD Clinical Practice Consensus Guidelines 2022: Type 2 diabetes in children and adolescents.

Since the 2018 ISPAD guidelines on this topic, follow-up of large cohorts from around the globe have continued informing the current incidence and prevalence of co-morbidities and complications in young adults with youth-onset type 2 diabetes (T2D). This chapter focuses on the risk factors, diagnosis and presentation of youth-onset T2D, the initial and subsequent management of youth-onset T2D, and management of co-morbidities and complications. We include key updates from the observational phase of the multi-center Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) clinical trial, the SEARCH for Diabetes in Youth (SEARCH) study and new data from the Restoring Insulin Secretion (RISE) study, a head-to-head comparison of youth onset vs adult-onset T2D.

Long-Term Outcomes of Paediatric-Onset Craniopharyngioma: A Retrospective Analysis from a Tertiary Care Centre in North India.

Background: Craniopharyngiomas are associated with long-term morbidity in the form of hormone deficiencies, visual deficits, and hypothalamic obesity.

Objective: To study the long-term outcomes, including cure rates, endocrine dysfunction, visual dysfunction, hypothalamic obesity, and mortality in pediatric-onset craniopharyngiomas.

Methods: A retrospective data analysis of pediatric (onset <18 years) craniopharyngioma diagnosed between 2003 and 2018.

Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling.

Congenital hyperinsulinemia (CHI) is a genetically and clinically heterogenous disorder. In addition to the standard care of management of the proband, genetic counseling regarding the risk of recurrence in the future siblings is an important part in the management of the disorder. The counseling needs identification of accurate etiology and is challenging due to the complexity of the molecular mechanisms of CHI.

Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report.

Background: Xp22.3 region is characterized by low frequency of interspersed repeats and low GC content. Several clinically important genes including ANOS1 (KAL1) reside in this region.

Prevalence and epidemiological profile of celiac disease in children with type 1 diabetes mellitus: Experience from a tertiary care center of India.

Background: The HLA associations of celiac disease (CD) in north Indians differ from that in Europeans. Our dietary gluten is among the highest in the world. Data on CD in people with diabetes (PWD) in north India is scant.

Use of strain, strain rate, tissue velocity imaging, and endothelial function for early detection of cardiovascular involvement in young diabetics.

Background: Subtle structural and functional changes may precede the onset of overt global left ventricular (LV) dysfunction. Data pertaining to tissue velocity imaging (TVI)and strain imaging to assess regional myocardial function and flow mediated vasodilatation are limited in young patients with diabetes.

Materials: Conventional echocardiography, TVI parameters along with strain (S), and strain rate (SR) were measured in 50 young diabetics (15.

Cushing's Disease in Children: A Review.

Cushing's disease is rare in the paediatric age group. The disease manifestations are similar to that seen in adults. Most of the management protocols have, therefore, been adopted from experience in adults and the therapeutic strategies employed in the latter group.

High prevalence of idiopathic (islet antibody-negative) type 1 diabetes among Indian children and adolescents.

Objectives: To study the prevalence and clinical characteristics of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) among Indian children and adolescents at the time of diagnosis of illness.

Methods: In a hospital-based cross-sectional study, we studied 110 patients with T1DM aged ≤18 years. This included 61 patients with duration of diabetes ≤2 weeks (mean ± SD age of onset 9.

Adolescent polycystic ovary syndrome according to the international evidence-based guideline.

Background: Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging because features of normal pubertal development overlap with adult diagnostic criteria. The international evidence-based PCOS Guideline aimed to promote accurate and timely diagnosis, to optimise consistent care, and to improve health outcomes for adolescents and women with PCOS.

Methods: International healthcare professionals, evidence synthesis teams and consumers informed the priorities, reviewed published data and synthesised the recommendations for the Guideline.

Treatment of Multi-drug Resistant Tuberculosis Causing Tubulopathy - Gitelman-like Syndrome.

Treatment of multi-drug resistant (MDR) tuberculosis (TB) includes aminoglycosides and ethionamide. A 16-year-old girl presented with sudden onset of paralysis, dyselectrolytemia mimicking Gitelman syndrome, and ethionamide-induced hypothyroidism. Monitoring electrolytes during MDR-TB treatment is recommended to prevent life-threatening complications.

Cardiovascular disease risk in the siblings of women with polycystic ovary syndrome.

Study Question: Do the siblings of Asian Indian women with polycystic ovary syndrome (PCOS) manifest increased cardiovascular disease (CVD) risk by carotid intima-media thickness (CIMT) and brachial artery flow-mediated dilatation (FMD)?

Summary Answer: Siblings had functional endothelial dysfunction (FMD was reduced) when compared to age and BMI-matched controls while sisters but not brothers had structural endothelial dysfunction (CIMT was increased).

What Is Known Already: Siblings of women with PCOS have increased metabolic risk but it varies with ethnicity. Among Asian Indians the only previous study has shown reduced FMD in brothers.

Anti-Müllerian Hormone in PCOS: A Review Informing International Guidelines.

Polycystic ovary syndrome (PCOS) affects 8-13% of women. The Rotterdam diagnostic criteria include polycystic ovarian morphology (PCOM) on ultrasound, but given recognized challenges, serum anti-Müllerian hormone (AMH) is proposed as an alternative. To inform international PCOS guidelines, a systematic review was completed.

Polycystic ovary syndrome in adolescents.

Menstrual irregularity and evidence of hyperandrogenism are characteristic features of polycystic ovary syndrome (PCOS) in adolescents. Diagnosis of PCOS is challenging as clinical features cannot be differentiated from the events of normal development. The specific aetiology of PCOS is not known but it is a complex disease resulting from interplay of genetic susceptibility, intrauterine, extra-uterine and environmental factors.