Management of congenital adrenal hyperplasia (CAH) from embryonic stage to adulthood is a critical challenge. We would like to comment on some of the practical difficulties in offering prenatal treatment for CAH-affected fetuses in Indian population. For initiating the prenatal dexamethasone (DEX) treatment, all members of the family need to be informed about the risks and benefits of the treatment to the mother and the fetus as well as about the available invasive diagnostic tests to determine the gender and genotype of the fetus. Prenatal sex disclosure is not routinely practiced in India due to high female feticide rate. The treatment has to be given to both unaffected and affected female fetuses until the determination of prenatal sex. Moreover, most of our populations reside in rural areas where the antenatal care is not adequate. Prenatal DEX treatment in India outruns the risks rather than the benefits, as evident from the literature on the safety of pregnant mothers and fetuses.

Although several evidence-based guidelines for managing diabetes are available, few, if any, focus on the psychosocial aspects of this challenging condition. It is increasingly evident that psychosocial treatment is integral to a holistic approach of managing diabetes; it forms the key to realizing appropriate biomedical outcomes. Dearth of attention is as much due to lack of awareness as due to lack of guidelines. This lacuna results in diversity among the standards of clinical practice, which, in India, is also due to the size and complexity of psychosocial care itself. This article aims to highlight evidence- and experience-based Indian guidelines for the psychosocial management of diabetes. A systemic literature was conducted for peer-reviewed studies and publications covering psychosocial aspects in diabetes. Recommendations are classified into three domains: General, psychological and social, and graded by the weight they should have in clinical practice and by the degree of support from the literature. Ninety-four recommendations of varying strength are made to help professionals identify the psychosocial interventions needed to support patients and their families and explore their role in devising support strategies. They also aid in developing core skills needed for effective diabetes management. These recommendations provide practical guidelines to fulfill unmet needs in diabetes management, and help achieve a qualitative improvement in the way physicians manage patients. The guidelines, while maintaining an India-specific character, have global relevance, which is bound to grow as the diabetes pandemic throws up new challenges.

India has over 62 million people with diabetes. Unfortunately, there are no trained diabetes educators in India although many are self-taught through experience. The National Diabetes Educator Program (NDEP) was initiated with the primary aim to educate and train diabetes educators in India. The first cycle of NDEP was conducted during the period June 2011 to March 2012 in 96 training centers in India and trained 1032 diabetes educators mainly drawn from various diabetes clinics across the country. Structured modules were taught by diabetologists/endocrinologists or experienced educators. A majority of the trainees attended all sessions and 95% of the trainees acknowledged that the program met its objective and was beneficial to them. This article elaborates the methodology of the program and its evaluation based on feedback received from the participants and trainers.

Human serum paraoxonase 1 (PON1) is an enzyme with esterase activity, and is physically bound to high-density lipoproteins (HDL). It plays a key role in the action of HDL toward protection of lipoprotein and biological membrane against oxidative damage. It may have a protective role against atherosclerosis by virtue of its action on hydrolyzing lipid peroxides and preventing accumulation of phospholipids in oxidized low-density lipoprotein (LDL). PON1 is hypothesized to be an indicator of the risk of atherosclerosis and coronary artery disease development. Numerous studies have implicated PON1 activity in relation to various endocrine disorders. The current article reviews the clinical perspectives of PON1 activity with regards to obesity, diabetes mellitus with its complications, and dyslipidemia.

Abnormalities of the incretin axis have been implicated in the pathogenesis of type 2 diabetes mellitus. Glucagon-like peptide-1 (GLP-1) and gastroinhibitory intestinal peptide constitutes >90% of all the incretin function. Augmentation of GLP-1 results in improvement of beta cell health in a glucose-dependant manner (post-prandial hyperglycemia) and suppression of glucagon (fasting hyperglycemia), amongst other beneficial pleiotropic effects. Native GLP-1 has a very short plasma half-life and novel methods have been developed to augment its half life, such that its anti-hyperglycemic effects can be exploited. They can be broadly classified as exendin-based therapies (exenatide, exenatide once weekly), DPP-4-resistant analogues (lixisenatide, albiglutide), and analogues of human GLP-1 (liraglutide, taspoglutide). Currently, commercially available analogues are exenatide, exenatide once weekly, and liraglutide. This review aims to provide an overview of most GLP-1 analogues.

Dyslipidemia and its consequences are emerging as epidemics with deleterious consequences on cardiovascular (CV) health. The beneficial effects of omega-3-fatty acids on cardiac and extra cardiac organs have been extensively studied in the last two decades, and continue to show great promise in the primary and secondary prevention of cardiovascular diseases (CVDs). Omega-3-fatty acid supplementation has been proven to have beneficial action on lipid profile, cytokine cascade, oxidant-anti-oxidant balance, parasympathetic and sympathetic tone and nitric oxide synthesis. This review summarizes the current knowledge on the basis of its cardiac and non-cardiac benefits, present results from clinical trials and the recommendations for its use in cardiac diseases and dyslipidemias.

Diabetes is highly prevalent in India and the proportion of younger patients developing diabetes is on the increase. Apart from the more universally known type 1 diabetes and obesity related type 2 diabetes, monogenic forms of diabetes are also suspected to be prevalent in many young diabetic patients. The identification of the genetic basis of the disease not only guides in therapeutic decision making, but also aids in genetic counselling and prognostication. Genetic testing may establish the occurrence and frequency of early diabetes in our population. This review attempts to explore the utilities and horizons of molecular genetics in the field of maturity onset diabetes of the young (MODY), which include the commoner forms of monogenic diabetes.

Diabetes mellitus has a number of long-term effects on the genitourinary system. These effects predispose to bacterial urinary tract infections (UTIs) in the patient with diabetes mellitus. Complicated UTIs are also common and potentially life-threatening conditions. They include emphysematous pyelonephritis, emphysematous pyelitis/cystitis, xanthogranulomatous pyelonephritis, renal/perirenal abscess, and renal papillary necrosis. Improved outcomes of these entities may be achieved by early diagnosis, knowledge of common predisposing factors, appropriate clinical and radiological assessment, and prompt management. Herein we review complicated UTIs associated with diabetes mellitus in terms of pathogenesis, clinical manifestations, radiological features, and current management options.

Understanding the role of visceral fat accumulation in the occurrence and progression of metabolic syndrome is of considerable interest. In order to understand the difference between visceral tissue biology of healthy and unhealthy obese individuals, we have used microarray profiling to compare genome-wide expression differences between visceral adipose tissue biopsies obtained from obese diabetics, and those from age and body mass index (BMI) matched normal glucose tolerance subjects. Whereas genes upregulated in diabetics showed enrichment of natural killer cell mediated cytotoxicity, the downregulated genes showed enrichment of biosynthesis of unsaturated fatty acids. Given the known inhibitory effect of unsaturated fatty acids on inflammation and natural killer cell number or activity, our results suggest that visceral inflammation resulting from decreased levels of unsaturated fatty acids may underlie progression of diabetes in obese individuals.

Tracking endocrine disease in mythology especially one as old and diverse as Indian mythology is a challenge. A curious case of sex reversal in the bhagavata purana is described and hunches about the disorder of sexual differentiation that manifested itself in the hapless Sudyumna the son of Manu is attempted. 5 alpha reductase deficiency appears to be the closest candidate but some twists in the tale are required to fill in the gaps.

Background: Subclinical Hypothyroidism (ScHt) affects 3-15% of the adult population. It's clinical and biochemical profile is not well defined, especially in Indian scenario. Our study aimed at screening normal population to define normative ranges of thyroid hormones and Serum thyroid stimulating hormone (S.TSH) and prevalence of ScHt and thyroid autoimmunity. Materials and Methods: Two-hundred thirty-seven normal subjects without family history of thyroid disease were evaluated for symptoms and laboratory tests for thyroid dysfunction and autoimmunity. Results: The thyroid function tests were as follows: Euthyroid Group: Mean values were: T3: 1.79 ± 0.42 ng/ mL, T4: 10.23 ± 2.25 μg/dL, FT3: 1.88 ± 0.19 pg/mL, FT4: 1.12 ± 0.21 ng/dL, S.TSH: 2.22 ± 1.06 μlu/mL. 10.2% of euthyroid subjects had antimicrosomal antibodies (AMA) +ve (mean titer 1:918) and 23.6% were anti-thyroid peroxidase autoantibody (anti-TPO) +ve (mean titer 15.06 Au/mL). The euthyroid outlier range for S.TSH was 0.3-4.6 μlu/mL. The values were comparable in both the sexes. Those with S.TSH ≥ 5 μlu/mL were defined to have ScHt. ScHt Group : Prevalence of ScHt was 11.3% (M:F ratio 1:3.7). 74% belonged to 35-54 years age group and prevalence increased with age (post-menopausal females: prevalence 20%). S.TSH was 9.8 ± 7.22 μlu/mL, mean S.AMA was 1:5079 (40.7% positivity) and mean S.anti-TPO was 260 Au/mL (47.6% positivity). Majority were agoitrous (74%), and stage I goiter was seen in 26% of this population. Symptom score of 5-8 was seen in 55% ScHt subjects versus 35% normal subjects. Conclusion: Mean S.TSH in our population was 2.22 μlu/mL (euthyroid outliers: 0.3-4.6 μlu/mL); hence, S.TSH above 4.6 μlu/mL should be considered as abnormal. The prevalence of thyroid autoimmunity increases after age of 35 years. ScHt presents mainly in agoitrous form and with positive antibodies, suggesting autoimmunity as the cause.

Background: Autonomic dysfunction may contribute to cardiovascular morbidity in subclinical hypothyroid patients. It is controversial whether the abnormality exists in sympathetic or the parasympathetic function. It is also not known whether the severity of autonomic dysfunction is related to the degree of thyroid deficiency. Design of Study: Prospective case control. Materials and Methods: Autonomic functions based on heart rate (HR) and blood pressure (BP) responses to various maneuvers were evaluated and scored in twenty two subclinical hypothyroid patients, 30-50 years and compared with twenty hypothyroid patients. Biochemical estimation of TSH, fT ₃ , fT ₄ , TPO antibody was done. Result: Sympathetic function abnormalities were seen in 82% subclinical hypothyroid patients and 85%hypothyroid patients when one test was abnormal. Parasympathetic dysfunction was also recorded in eight patients in both groups. When two abnormal tests were used as the selection criteria sympathetic function abnormality was observed in about 41% subclinical hypothyroid and 65% hypothyroid patients. There were no intergroup differences in autonomic functions, score and TPO levels. The TSH levels were not related to type or degree of autonomic dysfunction. Systolic BP in both groups and diastolic BP in hypothyroid patients were higher with lower thyroxine levels but the patients were normotensive. Conclusion: Autonomic dysfunction of comparable degree was seen in subclinical hypothyroid and hypothyroid patients. Sympathetic function abnormality was more common although decreased parasympathetic function reactivity was also present. These abnormalities were unrelated to TSH levels.

Background: In recent times, there are reports of adrenal dysfunction in whole spectrum of liver disease. Adrenal insufficiency (AI) has been shown to correlate with progression of liver disease. Hence this study was conducted to assess adrenal function in subjects with acute liver disease (ALD), chronic liver disease (CLD) and post liver transplantation (LT). Material and Methods: This study included 25 healthy controls, 25 patients of ALD, 20 subjects of CLD with Child-Pugh stage A (CLD-1) and 30 with Child-Pugh stage B or C (CLD-2), and 10 subjects with LT. All subjects were assessed clinically, biochemically and for adrenal functions. Results: AI was present in 9 (34.6%) patients with ALD, 20 (40%) patients with CLD and 4 (40%) in subjects with LT. AI was more common in CLD-2 (18 patients - 60%) than CLD-1 (2 patients - 10%). All patients with chronic liver disease had significantly lower basal cortisol (8.8±4.8, P=0.01), stimulated cortisol (18.2±6.3, P <0.00001) and incremental cortisol (9.4±4.6, P <0.00001) as compared to controls. There was increase in percentage of subjects with adrenal dysfunction with progression of liver disease as assessed by Child-Pugh staging. AI was predicted by lower levels of serum protein, serum albumin, total cholesterol and HDL cholesterol and higher levels of serum bilirubin and INR. Adrenal functions showed recovery following liver transplantation. Conclusions: AI forms important part of spectrum of acute and chronic liver disease. Deterioration of synthetic functions of liver disease predicts presence of AI, and these patients should be evaluated for adrenal dysfunction periodically.

Introduction: Metabolic syndrome predisposes to diabetes and atherosclerotic vascular disease. Statins reduce cardiovascular events, so all metabolic syndrome patients should be evaluated for dyslipidemia. Many patients fail to achieve lipid goals with statin monotherapy. Co-administration of ezetimibe (EZE) and atorvastatin (ATV) may enable more patients to achievelow-density lipoproteincholesterol (LDL-C) goal while avoiding risks of high-dose statin monotherapy. Materials and Methods: The present study compares rosuvastatin (Rsv) with a combination of (Atv) and (Eze). Metabolic syndrome patients, 30-70 years with LDL-C ≥130 mg/dl and a 10-year CHD risk score of 10% were randomized to double-blind treatment with (Rsv) 5 mg (n = 67) or (Atv) 10 mg+(Eze) 10 mg (n = 68) for 12 weeks. Results: LDL-C reduced significantly; (32.3% and 30.3%, P < 0.001) in (Atv)+(Eze) and (Rsv), respectively, but there was no significant difference between two arms. More patients achieved LDL-C goal of ≤100 mg/dl with (Atv)+(Eze) compared to (Rsv) (65% vs. 58%, P < 0.05). Triglycerides (TG) were reduced more with (Atv)+(Eze) compared to (Rsv) (28.1% and 21.4%, P < 0.001). Greater increase in high-density lipoprotein cholesterol (HDL-C) was observed with (Atv)+(Eze). Both treatments were well tolerated. Conclusion: This study shows that the combination of (Atv)+(Eze) has more efficacy and comparable safety to that of (Rsv).

Background: The aim of this study was to observe the effect comprehensive yogic breathing (Sudarshan Kriya Yoga [SKY] and Pranayam) had on cardiac autonomic functions in patients with diabetes. Materials and Methods: This is a prospective randomized controlled intervention trial. Cardiac autonomic functions were assessed in 64 diabetics. Patients were randomized into two groups, one group receiving standard therapy for diabetes and the other group receiving standard therapy for diabetes and comprehensive yogic breathing program. Standard therapy included dietary advice, brisk walking for 45 min daily, and administration of oral antidiabetic drugs. Comprehensive yogic breathing program was introduced to the participants through a course of 12 h spread over 3 days. It was an interactive session in which SKY, a rhythmic cyclical breathing, preceded by Pranayam is taught under the guidance of a certified teacher. Cardiac autonomic function tests were done before and after 6 months of intervention. Results: In the intervention group, after practicing the breathing techniques for 6 months, the improvement in sympathetic functions was statistically significant (P 0.04). The change in sympathetic functions in the standard therapy group was not significant (P 0.75).Parasympathetic functions did not show any significant change in either group. When both parasympathetic and sympathetic cardiac autonomic functions were considered, there was a trend toward improvement in patients following comprehensive yogic breathing program (P 0.06). In the standard therapy group, no change in cardiac autonomic functions was noted (P 0.99). Conclusion: Cardiac autonomic functions improved in patients with diabetes on standard treatment who followed the comprehensive yogic breathing program compared to patients who were on standard therapy alone.

Context: In Nigeria, much has been reported on the unacceptably high disease burden of Tuberculosis (TB) and Diabetes Mellitus (DM) but not the possible co-existence of these diseases. Aim: This study was conducted to document the co-existence of DM and TB in persons with established TB. Settings and Design: This was a cross-sectional study conducted at a Tertiary hospital's Directly Observed Therapy short course clinic in Lagos, South west, Nigeria. Materials and Methods: Three hundred and fifty one consecutive patients with TB who consented to the study participated after a written consent. Ethical approval was given by the Ethics committee of the institution. Clinical examination for documentation of anthropometric indices and biochemical evaluation for blood glucose levels were carried out. Results: The prevalence of DM among the patients with TB was 5.7%. About half of the diabetics were diagnosed (2.8%) at the screening. The mean age of the participants was 34.9 ± 13.21 years; the mean duration of symptoms of TB was 9.65 ± 9.49 months. Weight (kg) loss was the most predominant symptom occurring in 94% of the patients. There was no significant difference in the sputum positivity and duration of cough among patients with TB-DM and those with TB alone. Conclusion: Diabetes is an important co-morbid feature to be sought in patients with TB. This study re-echo the need to raise awareness on screening for DM in persons with TB.

Background: Both insulin deficiency and resistance are reported in patients with β-thalassemia major (BTM). The use of continuous blood glucose monitoring (CGM), among the different methods for early detection of glycemic abnormalities, has not been studied thoroughly in these adolescents. Materials and Methods: To assess the oralglucose tolerance (OGT) and 72-h continuous glucose concentration by the continuous glucose monitoring system (CGMS) and calculate homeostatic model assessment (HOMA), and the quantitative insulin sensitivity check index (QUICKI) was conducted in 16 adolescents with BTM who were receiving regular blood transfusions every 2-4 weeks and iron-chelation therapy since early childhood. Results: Sixteen adolescents with BTM (age: 19.75 ± 3 years) were investigated. Using OGTT, (25%) had impaired fasting blood (plasma) glucose concentration (BG) (>5.6 mmol/L). 2-h after the glucose load, one of them had BG = 16.2 mmol/L (diabetic) and two had impaired glucose tolerance (IGT) (BG > 7.8 and <11.1 mmol/L). Monitoring the maximum (postprandial) BG using CGMS,4 adolescents were diagnosed with diabetes (25%) (BG >11.1 mmol/L) and 9 with IGT (56%). HOMA and QUICKI revealed levels <2.6 (1.6 ± 0.8) and >0.33 (0.36 ± 0.03), respectively, ruling out significant insulin resistance in these adolescents. There was a significant negative correlation between the β-cell function (B%) on one hand and the fasting and the 2-h BG (r=−0.6, and − 0.48, P < 0.01, respectively) on the other hand. Neither fasting serum insulin nor c-peptide concentrations were correlated with fasting BG or ferritin levels. The average and maximum blood glucose levels during CGM were significantly correlated with the fasting BG (r = 0.68 and 0.39, respectively, with P < 0.01) and with the BG at 2-hour after oral glucose intake (r = 0.87 and 0.86 respectively, with P < 0.001). Ferritin concentrations were correlated with the fasting BG and the 2-h blood glucose levels in the OGTT (r = 0.52, and r = 0.43, respectively, P < 0.01) as well as with the average BG recorded by CGM (r = 0.75, P < 0.01). Conclusion: CGM has proven to be superior to OGTT for the diagnosis of glycemic abnormalities in adolescents with BTM. Defective β-cell function rather than insulin resistance appeared to be the cause for these abnormalities.

Aim: To assess the prevalence of persistent microalbuminuria (MAU), its clinical correlates by dip stick method, its predictive value for potential kidney disease and the utility of this test as objective cue for health care seeking behavior in adult Indian patients with type 2 diabetes mellitus. Materials and Methods: Approximately 400,000 patients shall be enrolled in this multicentric, cross sectional study. Patients meeting eligibility criteria shall be screened for MAU through urine dipstick test using random daytime single spot urine specimen. Result shall be expressed either positive or negative based on the presence or absence of albumin in the urine and will be correlated with the corresponding random blood glucose. Height, weight, waist circumference and blood pressure shall be assessed. There will be three visits with a minimum interval of 28 days between two visits, to be completed within 180 days, and at least two of three urine tests measured in this period must show elevated albumin levels to diagnose MAU. Conclusion: Detection of MAU through the dipstick method is postulated to be a rapid, reliable test for early detection of diabetic nephropathy, which, in turn will help the physician to plan treatment strategy. Further, it will help to identify the disease burden on the individual and society, and may serve as an objective cue for improved health care seeking behavior, as well as a catalyst for health policy change.

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46, XX. No chromosome Y was detected at the fluorescence in situ hybridization (FISH) analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging. Laparoscopy disclosed concomitant ovarian dysgenesis and MRKH syndrome. There were no other associated malformations. Hormonal substitution therapy with oral conjugated estrogens was begun. The patient has been under regular follow-up for the last two years and is doing well.

Feminizing adrenal tumors (FATs) are very rare as they account for less than 2% of all the adrenal neoplasms. Their prognosis is deemed to be very poor. We aimed to present a mono centre (adult and pediatric) experience over a long period of time (January 1980 to Jun 2012). During the study period, we observed only three cases in men aged 22 (2 cases) and 45 (1 case). They all consulted for a painful gynecomastia, decreased libido and impotency. Estradiol was high in two cases at presentation, and after a relapsing tumor in the third one. All had big adrenal tumors (5.9, 6, and 17 cm), and a mixed secretion composed by high estradiol and cortisol. The pathological study argued for malignancy in two cases. But, only one had diffuse metastasis and died 4 years after diagnosis; the others diagnosed one and three years ago are still alive without any metastasis or relapsing.

Multiple endocrine neoplasia-1 (MEN1) is an autosomal dominant syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas. Other recognized manifestations include carcinoid, cutaneous or adrenocortical tumors. It is commonly presented with clinical features related to parathyroid, pancreas or pituitary lesions. Here, we have presented a case that had virilization and biochemical Cushing's syndrome due to adrenocortical carcinoma as presenting feature of MEN1. Cushing's syndrome in MEN1 is an extremely rare and usually late manifestation and most cases are due to corticotropin-producing pituitary adenomas. Although Cushing's syndrome generally develops years after the more typical manifestations of MEN1 appear, it may be the primary manifestation of MEN1 syndrome particularly when related to adrenal adenoma or carcinoma.

We hereby report a patient with seizure disorder who was on long term carbamazepine, admitted with features of thyrotoxicosis and cerebellar dysfunction. Anticonvulsant medications are cerebellar toxins; but in this case, reversal of cerebellar dysfunction was noted upon treatment of thyrotoxicosis with antithyroid drugs.

Graves' disease is an autoimmune thyroid condition characterized by the production of autoantibodies against the thyrotropin receptor. It is known to be associated with autoimmune conditions such as myasthenia gravis, Addison's disease, type 1 diabetes mellitus, and vitiligo. We present a case of rare autoimmune association of Graves' disease with thymic hyperplasia which regressed after treatment with antithyroid drugs. Exact pathophysiology of thymic hyperplasia in Graves' is not well understood; it is likely to be the result of rather than the cause of Graves' disease.

The role of serum calcitonin as part of the evaluation of thyroid nodules has been widely discussed in literature. However there still is no consensus of measurement of calcitonin in the initial evaluation of a patient with thyroid nodule. Problems concerning cost-benefit, lab methods, false positive and low prevalence of medullary thyroid carcinoma (MTC) are factors that limit this approach. We have illustrated two cases where serum calcitonin was used in the evaluation of thyroid nodule and rates proved to be high. A stimulation test was performed, using calcium as secretagogue, and calcitonin hyper-stimulation was confirmed, but anatomopathologic examination did not evidence medullar neoplasia. Anatomopathologic diagnosis detected Hashimoto thyroiditis in one case and adenomatous goiter plus an occult papillary thyroid carcinoma in the other one. Recommendation for routine use of serum calcitonin in the initial diagnostic evaluation of a thyroid nodule, followed by a confirming stimulation test if basal serum calcitonin is showed to be high, is the most currently recommended approach, but questions concerning cost-benefit and possibility of diagnosis error make the validity of this recommendation discussible.

Adrenal histoplasmosis is an uncommon cause for adrenal insufficiency. The duration of treatment for adrenal histoplasmosis is not clear. Existing treatment regimens advocate antifungals given for periods ranging from 6 months to 2 years. We report here a rare case who showed persistence of histoplasma in adrenal biopsy 7 years after being initially treated with itraconazole for 9 months. This calls for a prolonged therapy with regular review of adrenal morphology and histology in these patients.