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Hypoparathyroidism is a common encounter in endocrinology practice. A thorough search for the etiology is generally futile, and most cases are labeled as idiopathic. Familial idiopathic hypoparathyroidism is a large chunk of these idiopathic cases. Here we present 2 cases who presented with features of hypocalcemia and were eventually diagnosed with hypoparathyroidism. Our first case is that of a middle-age woman who presented with spontaneous tetany and perioral numbness. She had very low serum calcium values, low serum magnesium, hypokalemia, hypercalciuria, and undetectable parathormone levels. She was initially managed with parenteral calcium, magnesium, and oral potassium chloride, which was shifted to oral replacements once stabilized. Focused exome sequencing for causes of hypoparathyroidism and hypocalcemia revealed a frameshift mutation in glial cell missing homolog 2 (GCM2) (NM_004752.4) on chromosome 6, c737dupA variant (p. Asp246Glufs*25) located at exon 5. The second case presented is that of a 1-month-old infant presenting with hypocalcemic seizures, severe hypocalcemia, hyperphosphatemia, and low parathormone levels. The infant was stabilized with parenteral calcium and trial of subcutaneous teriparatide for further improvement. Oral calcium and calcitriol were instituted once stabilized, and teriparatide was tapered off. Focused exome sequencing revealed a homozygous mutation involving GCM2 (ENST0000379491.5) on chromosome 6, variant CM2 chr6:10876558_10877139insT located on exon1-2. Both of these mutations are novel and underscore the profound effect of GCM2 on parathyroid gland development in infants and maintenance in adults. [ABSTRACT FROM AUTHOR]

Because type 2 diabetes is a progressive disease, its natural course requires initiation of insulin in a significant proportion of patients, especially when oral agents fail to achieve glycemic targets. [...]

Diabetic kidney disease (DKD) occurs in approximately 20–40% of patients with type 2 diabetes mellitus. Patients with DKD have a higher risk of cardiovascular and all-cause mortality. Angiotensin-converting enzyme inhibitors or angiotensin receptor blockers and antihyperglycemic drugs form the mainstay of DKD management and aim to restrict progression to more severe stages of DKD. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) control hyperglycemia by blocking renal glucose reabsorption in addition to preventing inflammation, thereby improving endothelial function and reducing oxidative stress; consequently, this class of prescription medicines is emerging as an important addition to the therapeutic armamentarium. The EMPA-REG OUTCOME, DECLARE TIMI 58, and CANVAS trials demonstrated the renoprotective effects of SGLT2i, such as restricting decline in glomerular filtration rate, in the progression of albuminuria, and in death due to renal causes. The renoprotection provided by SGLT2i was further confirmed in the CREDENCE study, which showed a 30% reduction in progression of chronic kidney disease, and in the DELIGHT study, which demonstrated a reduction in albuminuria with dapagliflozin compared with placebo (− 21.0%, confidence interval [CI] − 34.1 to − 5.2, p = 0.011). Furthermore, a meta-analysis demonstrated a reduced risk of dialysis, transplantation, or death due to kidney disease (relative risk 0.67; 95% CI 0.52–0.86; p = 0.0019) and a 45% risk reduction in worsening of renal function, end-stage renal disease, or renal death (hazard ratio 0.55, CI 0.48–0.64, p < 0.0001) with SGLT2i, irrespective of baseline estimated glomerular filtration rate. Thus, there is emerging evidence that SGLT2i may be used to curb the mortality and improve the quality of life in patients with DKD. However, clinicians need to effectively select candidates for SGLT2i therapy. In this consensus statement, we have qualitatively synthesized evidence demonstrating the renal effects of SGLT2i and proposed recommendations for optimal use of SGLT2i to effectively manage and delay progression of DKD. [ABSTRACT FROM AUTHOR]

Byline: Sumit. Sen, Ajitesh. Roy, Anusree. Gangopadhyay, Chinmay. Halder Sir, Leprechaunism or Donohue's syndrome is a rare condition occurring in less than one in a million births. Marked hypertrichosis, characteristic [...]

Introduction: Short penile length is a commonly encountered problem in clinical practice. Detection of abnormal stretched penile length (SPL) warrants appropriate endocrine evaluation. Ethnicity-specific SPL data are required to detect these abnormalities. There is a dearth of such data in India. This study aims to establish normative values of SPL in boys from West Bengal. Materials and Methods: This is a cross-sectional study. SPL, testicular volume (TV), height/length, and weight were measured in 460 boys aged 1 to 13 years from the schools located at urban, suburban, and rural areas in the state of West Bengal, India. Similar data were collected from 36 healthy neonates within 1–3 days of full-term delivery at IPGME and R and SSKM Hospital, Kolkata, West Bengal, India. Results: The 5th percentile, median, and 95th percentile of SPL were 1.7, 2.0, and 2.7 cm for neonates; 3.5, 4.4, and 6.4 cm for the children aged 1 Y–2 Y 11 M; 4.0, 5.5, and 7.0 cm for the age group 3 Y–4 Y 11 M; 4.2, 6.0, and 7.2 cm for the age group 5 Y–6 Y 11 M; 4.3, 6.0, and 7.6 cm for the age group 7 Y–8 Y 11 M; 4.4, 6.5, and 9.0 cm for the age group 9 Y–10 Y 11 M; and 4.8, 7.0, and 11.0 cm for the age group 11 Y–12 Y 11 M, respectively. SPL showed significant positive correlation with TV [r = 0.365, P < 0.0005] and height of the children [r = 0.516, P < 0.0005], but not with BMI. Conclusion: Our study provides normative data of SPL in neonate and children aged 1 to 13 years from the eastern part of India. SPL value correlated positively with TV and height of children. [ABSTRACT FROM AUTHOR]

Background: High dose oral prednisolone (100 mg/day) in Graves' orbitopathy (GO) is limited by lesser response, and greater side-effects compared to intravenous (iv) methylprednisolone. Low dose oral prednisolone has not been evaluated in GO. This study aimed to evaluate the safety and efficacy of low dose oral prednisolone in GO. Materials and Methods: A total of 114 consecutive GO patients were screened of which 65 patients with previously untreated moderate-severe GO, clinical activity score (CAS) >2, without co-morbid states were randomized into treatment Group-A (iv methylprednisolone 0.5 g for 3 days/month for 4 months) and Group-B (oral prednisolone 1 mg/kg/day for 6 weeks then tapered stopped), and followed-up. Thirty-one patients in each group with at least 1-year follow-up were analyzed. Responders were defined as improvement in ≥ 1 major response criteria or ≥ 2 minor response criteria. The trial is registered at ctri.nic.in (CTRI/2013/12/004264). Results: At 1-year, 27/31 (87.10%) patients were responders in Group-A compared to 17/31 (54.84%) in Group-B (P = 0.005). There was a greater improvement in CAS score in patients of Group-A as compared to Group-B (P < 0.001). Responders (n = 44) had significantly higher baseline intra-ocular pressures and left eye proptosis as compared to nonresponders. Cox-regression revealed baseline T4 levels, diplopia, and smoking history were predictive of remission. Low dose prednisolone was well tolerated, and the occurrence of adverse events were comparable in both groups. Conclusions: Low dose oral prednisolone is inferior to iv pulse methylprednisolone in managing GO, having a comparable side-effect profile. It can be a safe second line alternative in patients intolerant to pulse iv methylprednisolone. [ABSTRACT FROM AUTHOR]

Background. Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease. Rheumatic diseases are a major cause of chronic illness in children around the world. SLE is a further prevalent inflammatory illness. Aims and objectives. To study different growth parameters of Pediatric patients attending Pediatric Rheumatology clinic, to compare the growth parameters with age and sex matched Controls and to compare growth among different types of Pediatric rheumatic patients. Method. Different growth parameters and SMI (for children above 9 years) were recorded for patients attending Pediatric Rheumatology OPD having disease duration more than one year. Results. Among 121 patients, JIA was most common followed by SLE. Among JIA subtypes, SOJIA is most common. Mean age of presentation was earlier in SOJIA, late in JoAS. SLE patients had larger Duration of illness prior to diagnosis than JIA patients. In JIA patients, mean height was significantly less than controls. SOJIA and Polyarticular variety had significantly less weight and height compared to controls. SLE patients had significantly less weight and height compared to control. Anthropometric Parameters were significantly more in SLE patients compared to JIA cohort. There was significantly more delayed puberty both in JIA and SLE patients compared to controls. Conclusion. JIA was most common, followed by SLE. Among JIA patients SOJIA variety was most common, JIA patients had significantly lower height than Controls. SLE patients had significantly lower weight and height than Controls. Delayed Puberty was significantly more in both JIA and SLE patients compared to controls. [ABSTRACT FROM AUTHOR]

Rickets, one of the leading causes of bony deformities and short stature, can be calciopenic (inciting event is defective intestinal calcium absorption) or phosphopenic (inciting event is phosphaturia). Early diagnosis and timely treatment of rickets are crucial for correction of the limb deformities. Guidelines exist for nutritional rickets, but the diagnosis and management of the relatively uncommon forms of rickets are complex. This consensus aims to formulate a simplified diagnostic approach for rickets, especially in resource-limited settings. The consensus statement has been formulated by a 29-member committee from the Endocrine Society of Bengal. The process included forming a working group, conducting a literature review, identifying controversies, drafting, and discussion at a consensus meeting. Participants rated their agreement with the clinical practice points, and a 70% consensus was required. Input integration and further review led to the final consensus statements. Children with suspected rickets should initially be examined for distinctive skeletal deformities. The diagnosis of rickets should be confirmed with characteristic radiographic abnormalities. It is advisable to order tests for serum calcium, inorganic phosphorus (Pi), liver function, 25-hydroxyvitamin D (25OHD), parathyroid hormone, creatinine, and potassium in all patients with rickets. In cases of refractory rickets, it is also recommended that assessments be conducted for spot urine calcium, Pi, creatinine, and, blood gas analysis. In children with rickets and metabolic acidosis, tests for glycosuria, uricosuria, aminoaciduria, low molecular weight proteinuria, and albuminuria should be conducted. In children with resistant calciopenic rickets and sufficient serum 25OHD levels, serum 1,25(OH)2D concentration should be tested. 1,25(OH)2 D and fibroblast growth factor 23 estimation is useful for certain forms of phosphopenic rickets.

Introduction: Management of diabetes in India remains less than satisfactory despite a huge prevalence of type 2 diabetes (T2D). Associated obesity, inadequate lifestyle modifications and burden of treatment costs are certain major issues contributing to inadequate management of diabetes in India., Aim: To evaluate the use of Teneligliptin in patients with diabetes and its safety, efficacy and cost effectiveness especially in Indian patients with T2D., Methods: A detailed analysis of the best available scientific evidence (clinical trials, meta-analyses and real-world experience) was performed to create an evidence driven understanding of teneligliptin's efficacy, safety and cost effectiveness. Fourteen leading endocrinologists contributed as experts and the modified Delphi process was followed. Evidences and clinical questions were discussed over a series of web and in a live meeting. Final draft was created based on the opinions endorsed by the experts., Results: Teneligliptin is the most commonly used gliptin in India and exhibits pharmacokinetic and pharmacodynamic advantages as well as greater cost effectiveness compared to other gliptins. It has been recognized as an efficacious and well tolerated antidiabetic agent both as monotherapy and in combination based on multiple clinical trials, meta-analyses and real world studies. Teneligliptin as add on therapy to other antidiabetic drugs (OADs) or insulin has provided significant reductions in HbA1c, fasting plasma glucose (FPG) and postprandial plasma glucose (PPG) levels and is generally well tolerated with low risk of hypoglycemia both in short term and long term. Studies have also proven its efficacy in ameliorating glucose fluctuations, reducing post prandial insulin requirement, increasing active incretin levels and improving pancreatic β cells function. Efficacy and safety has also been proven in all age groups, all stages of renal disease and mild to moderate hepatic disease. QT prolongation is not seen even with maximum recommended dose of 40 mg/day., Conclusion: Teneligliptin has firmly positioned itself as a very important drug in the armamentarium for managing T2D. It offers efficacy, safety and cost-effective therapeutic choice in Indian patients with T2D., (© Journal of the Association of Physicians of India 2011.)

Dyslipidaemia in rheumatoid arthritis, is associated with accelerated atherosclerosis. A nonrandomised trial was conducted to find out the proportion of rheumatoid arthritis patients suffering from dyslipidaemia and change in lipid levels after an intervention with antirheumatic drugs in a tertiary care centre in Eastern India from April 2006 to July 2008. The trial was done on 161 diagnosed patients of rheumatoid arthritis (fulfilling the American College of Rheumatology criteria) on lipid levels. Lipids estimations were done enzymatically by semi-autoanalyser and dyslipidaemia was defined by taking the cut-off value of National Cholesterol Education Programme-Adult Treatment Panel III (NCEP-ATP III) guidelines. Patients with other comorbid illness and on statins were excluded. Disease activity score 28 (DAS-28) was also employed for evaluating disease activity. Patients were followed up to 10 -12 weeks for repeat lipid level estimation. Using the high cut-off values of NCEP-ATP III, 39.1% of the patients showed dyslipidaemia in initial visit. Low high density lipoprotein cholesterol (HDL-C) was the commonest abnormality seen in 37.2%. In the follow-up study after getting disease modifying antirheumatic drugs (methotrexate, sulfasalazine, hydroxychloroquine) therapy, 19.9% patients had dyslipidaemia again and there were increase in total cholesterol, low density lipoprotein cholesterol, HDL-C but triglyceride was reduced. Low HDL-C again became the commonest (17.9%) and rise in HDL-C level was statistically significant. DAS-28 showed a good reduction and significant negative correlation with HDL-C. Lipid abnormalities, common in Indian patients with rheumatoid arthritis, are also observed in Eastern India. Low HDL-C being the commonest abnormality. Disease activity in rheumatoid arthritis is inversely related to the lipid levels.