Drug-Induced Atypical Lipodystrophy.

We describe a case of an Asian-Indian female patient who presented to us with abnormal fat accumulations in the torso and upper arms following indiscriminate use of corticosteroid and anabolic steroids for about 7 years. Despite prolonged steroid use, the patient did not display cushingoid phenotype or metabolic decompensation. Bone density, echocardiography, and ultrasonogram of the liver were also normal with no evidence of excess pericardial fat, hepatic steatosis, or peliosis hepatis. Concurrent use of anabolic androgen is thought to be protective against the ill effects of steroids, especially on the muscle and bone. This phenomenon has been observed in children and adolescents with Cushing syndrome where the adrenal androgen excess and increased physical activity have shown to reasonably reduce protein catabolism and help in preserving muscle and bone mass. The patient was withdrawn from the drugs and was put on replacement hydrocortisone that was gradually tapered over the next few weeks and planned for surgical correction. This case highlights the fact that medical providers should be aware that a combination of anabolic steroids and glucocorticoids are still used for weight-building purposes, and these patients may present with atypical signs/symptoms as a result of this combination of drugs.

Synchronous presentation of prolactinoma and supratentorial tanycytic ependymoma.

Tanycytic ependymomas mostly occur in the spinal cord and it is the rarest histological subtype of ependymoma. A 29-year-old male was referred from the infertility clinic after serum prolactin levels were found to be elevated. Magnetic resonance imaging (MRI) brain showed an irregular necrotic lesion in the periventricular region of the left parietal lobe which had an intraventricular component and associated perilesional edema. In addition, a sellar mass with suprasellar extension was also found on the MRI. He was started on cabergoline therapy for macroprolactinoma and underwent a left parietal craniotomy, and microsurgical excision of the tumor using intraoperative neurosonographic guidance. Histologically, the tumor showed spindle cytologic features and poorly developed inconspicuous pseudorosettes, with areas of rounded nuclear profiles and perinuclear cytoplasmic clearing. Tumor cells were positive for vimentin, glial fibrillary acidic protein and S100, and negative for epithelial membrane antigen. Ki67 was <7%. He was diagnosed with tanycytic ependymoma and a coexistent prolactinoma. He received 10 cycles of image-guided radiotherapy. Post-operative imaging showed minimal residual tumor the size of which remained stable at 1-year follow-up scan. The pituitary macroadenoma regressed with cabergoline therapy and he clinically improved. This presentation of synchronous macroprolactinoma and tanycytic ependymoma has not been reported in the literature previously. An exhaustive literature review showed only 18 previously reported cases of supratentorial tanycytic ependymoma.

Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India.

Background: Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection. Aim: To study surgically treated pediatric PHPT retrospectively. Methods: Surgically treated children of PHPT up to 20 years of age between 2010 to 2022 were analyzed. All of them were operated on by an endocrine surgeon and team. Results: There was a total of 712 parathyroidectomies over 12 years, out of which there were 52 children (7.3%) had PHPT at less than 20 years of age. This group included 32 male children. The mean age was 16.1 years, including 7 cases of neonatal severe HPT. Multiple Endocrine Neoplasia type 1 was confirmed in 12 children. Presentations were more severe like bone pain (35.13%), renal stones (27.02%), incidental asymptomatic detection (18.9%), failure to thrive (10.8%), and pancreatitis (8.1%) as compared to adults. Mean serum calcium was 12.9 mg/dl (highest-14.1, N-8.8-10.8 mg/dl), mean parathormone levels were 386.91 pg/ml (N-10-65) and vitamin D levels ranged from 2.9-22.8 ng/ml. Localization was done with ultrasound and 99mTc- SESTAMIBI scans. Mean serum calcium levels in NSPHPT were 28.6 mg/dl (N-8.8-10.8 mg/dl). There were a total of 45 cases (6.32%) of PHPT less than 20 years of age, excluding the cases of NSPHPT. All children underwent parathyroidectomy, with 14 cases having an additional thymectomy, 2 cases with thyroidectomy, and a single case of hemithyroidectomy. The cure rate was 97.3%, while one baby with NSPHPT had persistent disease (postop PTH-110 pg/ml). The uniglandular disease was seen in 54.05% and the rest had a multiglandular disease. Adults accounted for 559/660 cases with 80% uniglandular disease. All cases had a postoperative histopathological confirmation with an average follow-up of 1 year. Conclusion: Childhood PHPT has a few features same as the adult population. Symptomatic presentations like adults, though pancreatitis and fatigue were more commonly seen as compared to bone pain. Calcium, phosphorus, and parathormone levels were comparable. Uniglandular involvement was seen just like the adult population. There are a few others that make them a distinct subtype like their symptoms of bone pain and being more common among boys. One-fourth of them had MEN1. Fewer cases in this age group make them unique.

Analysis of microvascular pattern in diabetes mellitus condition using the nailfold capillaroscopy images.

Diabetes is often considered a vascular disease due to its impact on blood vessels, it is a complex condition with various metabolic and autoimmune factors involved. One of the long term comorbidities of diabetes includes microvascular complications. The microvascular complications can be analyzed using the Nailfold capillaroscopy, a non-invasive technique that allows for the visualization and analysis of capillaries in the proximal nailfold area. Using advanced video capillaroscopy with high magnification, capillary images can be captured from and processed to analyze their morphology. The capillary images of normal group and diabetic group are acquired from 118 participants using nailfold capillaroscopy and the obtained images are preprocessed using image processing filters. The identification and segmentation of the capillaries are the challenges to be addressed in the processing of the images. Hence segmentation of capillaries is done using morphological operations, thresholding and convolutional neural networks. The performance of the filters and segmentation methods are evaluated using Mean Square Error (MSE), Peak signal to Noise Ratio (PSNR), Structural Similarity Index Measure (SSIM), Jaccard Index and Sorensen coefficient. By analyzing the morphological features namely the capillary diameter, density, distribution, presence of hemorrhage and the shape of the capillaries from both the groups, the capillary changes associated with diabetic condition were studied. It was found that the non diabetic participants considered in this study has capillary diameter in the range of 8-14 µm and the capillary density in the range of 10-30 capillaries per mm2 whereas the diabetic participants has capillary diameter greater than 30 µm and the capillary density is less than 10 capillaries per mm2. In addition to capillary density and diameter, the presence of hemorrhage, the orientation and distribution of the capillaries are also considered to differentiate the diabetic group from the non diabetic group. The classification of the participants are validated with the clinical history of the participants.

Effect of Teneligliptin 20 mg Twice Daily on Glucagon-Like Peptide-1 Levels and Its Influence on Non-Glycemic Components in Non-Diabetic Obese Individuals.

Background and Aims: Teneligliptin is an oral antidiabetic agent, it can persevere glucagon-like peptide-1 (GLP-1) by inhibiting dipeptidyl peptidase enzyme. In addition, it has rare incidence of hypoglycemia. Hence, this study aimed to test the effect of teneligliptin 20 mg twice daily along with low carbohydrate diet and physical exercise on change of body weight and insulin resistance in nondiabetic obese subjects. Materials and Methods: It is a prospective, randomized, double-blind, placebo-controlled, parallel group study carried out at outpatient department of an endocrinology hospital over the period of 48 weeks. Teneligliptin 20 mg twice daily 30 min before food (low carbohydrate diet [LCD]) with regular physical exercise, and control group was kept with placebo twice daily 30 min before food LCD with regular physical exercise. This study was registered in clinical trial registry of India [CTRI/2020/02/023329]. Results: A total of 150 nondiabetic obese subjects were randomized into test (n = 75) and control groups (n = 75). At the end of 48 weeks there was significant improvement in GLP-1, simplified nutrition assessment questionnaire (SNAQ) score, homeostasis model assessment of insulin resistance (HOMA-IR), triglycerides (TG), and body weight. The mean difference and 95% confidence interval of GLP-1 (pg/mL) was 76.42 (44.42-148.41) (P = 0.37); SNAQ score, -1.64 (-2.48 to -0.81) (P = 0.000); HOMA-IR, -0.9 (-0.59 to -0.38) (P = 0.000); TG (mg/dL) -29.37 (-44.46 to -14.07) (P = 0.000); reduction of body weight (kilograms) -3.09 (-6.11 to -0.07) (P = 0.043). Conclusion: Findings of this study reveals that teneligliptin-treated group showed significant improvement in GLP-1 levels, reduced insulin resistance, body weight, TG, appetite, and metabolic syndrome. Teneligliptin is well tolerated, except in upper respiratory tract infections. CTR number: CTRI/2020/02/023329.

Artificial intelligence and hemodynamic studies in optical coherence tomography angiography for diabetic retinopathy evaluation: A review.

Diabetic retinopathy (DR) is a rapidly emerging retinal abnormality worldwide, which can cause significant vision loss by disrupting the vascular structure in the retina. Recently, optical coherence tomography angiography (OCTA) has emerged as an effective imaging tool for diagnosing and monitoring DR. OCTA produces high-quality 3-dimensional images and provides deeper visualization of retinal vessel capillaries and plexuses. The clinical relevance of OCTA in detecting, classifying, and planning therapeutic procedures for DR patients has been highlighted in various studies. Quantitative indicators obtained from OCTA, such as blood vessel segmentation of the retina, foveal avascular zone (FAZ) extraction, retinal blood vessel density, blood velocity, flow rate, capillary vessel pressure, and retinal oxygen extraction, have been identified as crucial hemodynamic features for screening DR using computer-aided systems in artificial intelligence (AI). AI has the potential to assist physicians and ophthalmologists in developing new treatment options. In this review, we explore how OCTA has impacted the future of DR screening and early diagnosis. It also focuses on how analysis methods have evolved over time in clinical trials. The future of OCTA imaging and its continued use in AI-assisted analysis is promising and will undoubtedly enhance the clinical management of DR.

Our Uncommon Experience with 6 Cases of Riedel's Thyroiditis (Woody Thyroiditis).

Riedel's thyroiditis is a rare form of thyroiditis. Estimated prevalence is 1.06/100,000 population and is reported in 0.05% of thyroidectomy specimens. It has 38% association with systemic fibrotic conditions. We retrospectively reviewed 6 cases of Riedel's thyroiditis at a tertiary care centre in south India, from 2011 through 2019 with special emphasis on demography, clinical presentation, workup, management, intraoperative findings, postoperative outcomes and follow up. There were 4 females and 2 males of which we reported a rare presentation in paediatric age group which was probably never reported before. Presenting symptoms included dysphagia and compressive symptoms in neck. 5 out of 6 cases underwent surgical management- 4 total thyroidectomy and 1 hemithyroidectomy. Postoperative complications noted were temporary hypoparathyroidism, unilateral vocal cord palsy and temporary bilateral vocal cord palsy One case was medically managed with oral corticosteroids. There was no evidence of extra cervical fibrosis on follow up in all patients. There was no cause-specific mortality, and the fibrotic process stabilized or resolved in all patients. Riedel's thyroiditis is a fibroinflammatory disorder presenting with compressive symptoms mandating surgical intervention mainly decompression in the form of isthmectomy. However since extensive interventions are associated with complications it is less favoured approach. Long term follow up of these cases are necessary for detecting evidence of extra cervical fibrosis.

The role of body mass index or metabolic syndrome components causing depression in women: An observation from weight reduction clinical trial.

WHAT IS KNOWN AND OBJECTIVE: Depression is most important psychological problem that is much prevalent in women than men. Obesity and depression are the leading causes of both physical and mental disability and the link between these disorders had not explored well. The present study evaluated the link between the depression, Body mass index (BMI) and the components of metabolic syndrome (MetS) in subjects with, without insulin resistance. METHODS: A total of 150 subjects, vital and biochemical parameters were measured for eligible screened subjects in the trial of weight loss intervention at first visit. A self-reported Patient Health Questionnaire (PHQ-9) scale was used to assess the depression among the participants. The association of BMI and MetS components with risk of depression was analysed using multiple logistic regression analysis in subjects with and without insulin resistance. RESULTS: Obesity was associated with highly significant increase in risk of depression (OR = 13.01, 95% CI 4.40-38.49) as compared to overweight subjects. Female subjects with obesity had a greater risk for depression (ß: 3.725, OR: 42.62, 95% CI: 5.74-316.3 and p < 0.0001) than male subjects (ß: 1.922, OR: 6.83, 95% CI: 1.8-26 and p = 0.005), and it was statistically significant. There was no association between other models (IR and MetS) and depression in both genders (p < 0.05). WHAT IS NEW AND CONCLUSION: The odds of depression was 42.62 times more in obese women and 6.83 time more in obese men compared to overweight subjects. Subjects those who are having ≥3 metabolic syndrome (MetS) components, increased the risk of depression by 0.75 times in women and 1.50 times in men. In view of these results of our study, we conclude that the body mass index is an individual strong predictor of depression whereas metabolic syndrome and insulin resistance had no significant association with depression.

Self-care practices and factors influencing self-care among type 2 diabetes mellitus patients in a rural health center in South India.

BACKGROUND: Self-care for diabetes is very important in preventing complications of diabetes and also improving quality of life. This study aims to find the various self-care practices of type 2 diabetes patients who are being treated at a rural health center of a medical college and the factors influencing self-care. MATERIALS AND METHODS: This is a hospital-based cross-sectional study. Type 2 diabetes patients registered and receiving treatment from the noncommunicable disease clinic of a rural health center were administered a pretested questionnaire, developed based on different diabetes self-care questionnaires making changes as appropriate and including most aspects of self-care practices. The proportion of compliant was then cross-tabulated with background characteristics and their glycated hemoglobin (HbA1c) levels. SPSS version 16.0 was used for the analysis. RESULTS: Among 390 patients with a mean age 56 years, 25.5% adhered to at least four dietary modifications, 46% were physically active, and 57% had good compliance to drugs; hypoglycemia prevention practices ranged from 21% to 51%. Except for avoiding barefoot walking (90%), other foot-care practices were followed by only a quarter of them. Among ever users, 69.2%, 64.3%, and 29.4% have quit smoking, alcohol, and tobacco use, respectively. Adherence to dietary modifications and drug compliance were associated with a lower HbA1c level of ≤7 g% (P < 0.05). CONCLUSION: In this study, the compliance to physical activity or medications is much better than dietary changes and foot-care practices. Focused education programs and monitoring during follow-up visits will improve self-care in the less adhered to aspects. Those who are adherent to dietary modifications and drugs have better glycemic control.

The Indian Society for Bone and Mineral Research (ISBMR) position statement for the diagnosis and treatment of osteoporosis in adults.

The Indian Society for Bone and Mineral Research (ISBMR) has herein drafted clinical practice guidelines for the diagnosis and management of osteoporosis for the people of India. Implementation of the position statement in clinical practice is expected to improve the overall care of patients with osteoporosis in India. PURPOSE: In India, osteoporosis is a major public health problem. However, in the absence of any robust regional guidelines, the screening, treatment, and follow-up of patients with osteoporosis are lagging behind in the country. METHODS: The Indian Society for Bone and Mineral Research (ISBMR), which is a multidisciplinary group of physicians, researchers, dietitians, and epidemiologists and who study bone and related tissues, in their annual meeting, drafted the guidelines for the diagnosis and management of osteoporosis that would be appropriate in a resource constraint setting like India. RESULTS: Diagnosis of osteoporosis can be made in a patient with minimal trauma fracture without the aid of any other diagnostic tools. In others, bone mineral density measured by dual-energy X-ray absorptiometry remains the modality of choice. Data indicates that osteoporotic fractures occur at an earlier age in Indians than in the West; hence, screening for osteoporosis should begin at an earlier age. FRAX can be used for fracture risk estimation; however, it may underestimate the risk of future fractures in our population and still needs validation. Maintaining optimum serum 25-hydroxyvitamin D levels is essential, which, in most cases, would require regular vitamin D supplementation. Pharmacotherapy should be guided by the presence/absence of vertebral/hip fractures or the severity of risk based on clinical factors, although bisphosphonates remain the first choice in most cases. Regular follow-up is essential to ensure adherence and response to therapy. CONCLUSIONS: Implementation of the position statement in clinical practice is expected to improve the overall care of patients with osteoporosis in India.

'H-syndrome': a multisystem genetic disorder with cutaneous clues.

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal recessive genodermatosis of 'H-syndrome'. The diagnosis was confirmed by genetic analysis using next-generation sequencing which showed a homozygous mutation in the SLC29A3 gene (variant: c.1330G>T (p.Glu444Ter)) which was confirmed by Sanger sequencing. This is a rare syndrome with around 100 cases reported in world literature. Though the skin manifestations are pathognomonic of the H-syndrome, it has myriad presentations like short stature, insulin-dependent diabetes mellitus, hypogonadism, hypothyroidism, dyslipidaemia, cardiac anomalies and sensorineural hearing loss. We report this case to highlight the constellation of features of this rare syndrome and bring awareness among the physicians to be vigilant about this syndrome.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

Prevalence and Risk Factors of Diabetes, Hypertension and Other Non-Communicable Diseases in a Tribal Population in South India.

INTRODUCTION: The prevalence of non-communicable diseases is increasing in tribal areas of India owing to the development and adoption of modern lifestyle. This study was done to assess the prevalence and risk factors of obesity, diabetes and hypertension in a tribal area in South India. MATERIALS AND METHODS: A cross-sectional study was conducted among all men and women 40 years and above in ten randomly selected villages in three village panchayats located in a hilly area in Vellore district, Tamil Nadu. Minimum sample size calculated was 370. Data collection was done using a pretested questionnaire, clinical examination, and capillary blood glucose measurement. Prevalence and 95% confidence interval were estimated for diabetes and hypertension. By univariate and multivariate logistic regression, the Odds Ratio was calculated to identify the risk factors. SPSS version 16.0 was used. A value of P < 0.05 was considered statistically significant. RESULTS: The study included 502 subjects, 212 (42.2%) males and 290 (57.8%) females. The proportion of generalized and abdominal obesity was 21% and 36.5%. The prevalence of diabetes and hypertension among the tribal population was 7.4% and 36.5%. Approximately 62% of diabetes and 68% of hypertension were newly diagnosed during this study. Higher age, female sex, generalized and abdominal obesity, and diabetes were risk factors for hypertension and abdominal obesity and hypertension were risk factors for diabetes. CONCLUSION: The prevalence of diabetes and hypertension is high with two-thirds being newly diagnosed during study in this tribal population mandating early screening, awareness campaigns for early health-seeking and improvement in health access.

Is Paget Disease of Bone more Common in South India? Clinical Characteristics, Therapeutic Outcome and follow-up of 66 Patients from Tamil Nadu.

INTRODUCTION: Paget disease of bone (PDB) is a disorder of altered bone remodeling mainly characterized by increased osteoclastic activity. While the exact Indian prevalence remains unknown, a clustering of published cases suggests South Indian predominance. OBJECTIVE: To study the clinico-biochemical profile and therapeutic response of patients with PDB and briefly review the epidemiology of PDB from an Indian perspective. MATERIALS AND METHODS: Retrospective data was collected from the charts of patients who have been seen in endocrine out-patient clinics in Tamil Nadu over a 12-year period. Published literature on PDB from India was reviewed. RESULTS: A total of 66 patients (71% males) predominantly from Tamil Nadu were studied. The mean age at presentation was 67 ± 8 years. Polyostotic involvement was seen in 89% and familial occurrence of PDB in 5 patients. Symptoms at presentation mainly included bone pain (51%) and skeletal deformities (18%). Scalp vein sign (21%) and sensorineural hearing loss (64%) were also noted. Incidental PDB detection by raised serum alkaline phosphatase (SAP) levels was observed in 17% and by abnormal fluorodeoxyglucose-positron emission tomography (FDG-PET) scan in 6% of cases. Mean SAP at presentation was 606 ± 438 IU/L (Normal, 76-140). Major skeletal site involvement includes pelvis (62.1%) and spine (34.8%). Mean (range) follow-up of the cohort was 3.4 yrs (1-12 yrs). In all, 64 subjects received zoledronate and two received alendronate, and mean (SD) SAP at 1-year was 73 ± 42 IU/L. All but two showed remission at the end of 1 year. Two had pathological fractures and two had sarcomas. A review of epidemiology of PDB in Indian literature clearly showed a South Indian predilection for unclear reasons. CONCLUSION: In our cohort of PDB, male gender, polyostotic involvement, and hearing impairment were noted in more than two-thirds of patients and single-dose intravenous zoledronate was effective in normalizing SAP in almost all patients. PDB is intriguingly more common in South India and this needs more exploration.