Indian Journal of Endocrinology and Metabolism最新文献

Introduction: Pathological hyperprolactinemia is medically treatable condition with dopamine agonist therapy. This research was aimed to study clinical profiles of patients of hyperprolactinemia started on cabergoline and assess clinical, biochemical, and radiological response to treatment at the end of 6 months.

Methods: This was prospective observational study conducted over 1 year duration. All patients of pathological hyperprolactinemia who were started on cabergoline were included in this study. Cabergoline was started at 0.5 mg/week for idiopathic hyperprolactinemia and pituitary microadenomas, and 1 mg/week for macroadenomas. Clinical and biochemical responses in the form of resolution of clinical symptoms and reduction of prolactin levels were assessed at regular intervals till 6 months. With respect to tumoural hyperprolactinemia, repeat imaging was done after 6 months to assess for a tumour volume reduction of ≥50% from baseline.

Results: Out of 33 patients, 42.42% had pituitary microadenomas, 33.34% had macroadenomas, and 24.24% had idiopathic hyperprolactinemia. At presentation, the median prolactin levels were higher for pituitary macroadenomas (202 ng/ml) as compared to microadenomas (80.7 ng/ml) and idiopathic hyperprolactinemia (75.7 ng/ml) (P value - 0.015). Clinical response was seen in 81.8% (27/33) patients by the end of 6 months. 97% (32/33) patients had their prolactin normalised by 6 months, out of which 75.8% (25/33) had normal prolactin by the end of the first month itself. A tumour volume reduction of ≥50% was found in 72.7% (8/11) macroadenomas as compared to 50% (7/14) microadenomas in our study.

Conclusion: Cabergoline was highly efficacious for treatment of both tumoural and non-tumoural hyperprolactinemia with significant early clinical, biochemical, and radiological response to treatment.

Introduction: Limited data exist on the genetic profile of Familial primary hyperparathyroidism (FPHPT) in the Indian population. This study was conducted to determine the prevalence of targeted gene mutations in high-risk patients with PHPT.

Methods: This prospective cross-sectional study was conducted in the Department of Endocrinology at our University Hospital from February 2021 to February 2023, in which 103 patients diagnosed with PHPT were taken. A customised gene panel (MEN1, RET, CDKNIB, and CDC73) using next-generation sequencing (NGS) was performed in 39 patients with a strong suspicion of FPHPT based on age <35 years, family history of PHPT, multiglandular disease, hyperparathyroidism jaw tumour, cystic parathyroid adenoma (PA), parathyroid carcinoma (PC) and suspicion of MEN 1/2A/4 syndrome.

Results: Germline variants were observed in 11/39 (28.2%). MEN1 mutations were found in 7 patients (17.9%) and CDC73 mutations in 4 (10.2%). MENI mutations included c. 1351-2A>G, c. 249_252del (p.Ile85fs), c. 1763C>T(p.S588L) and c. 415C>T(p.H139Y). Clinical features in MEN1-positive patients included microprolactinomas (n = 2), multiglandular disease (n = 5), recurrent PHPT (n = 1), persistent PHPT (n = 1), and gastric neuroendocrine tumour (n = 1). Among CDC73 mutation patients, 2 (50%) had familial PHPT, 2 (50%) had hyperparathyroidism jaw tumour syndrome (one had multiple bilateral renal cysts and one had multiple uterine leiomyomas); however, none had either ossifying fibroma of the jaw. Identified CDC73 mutations included c. 664C>T(p.R222X), c. 415C>T(p.R139X), c. 687_688dellAG(p.Arg229Serfs37), and c76delA(p.Ile26SerfsX11). The mutations were statistically associated with age, higher serum calcium levels, elevated ALP, and greater skeletal involvement.

Conclusion: For optimal management, PHPT patients with high-risk features should be subjected to customised genetic testing in resource-limited settings.

The escalating burden of carbon overload, largely driven by fossil fuel combustion, deforestation, and industrial activities, is a major contributor to climate change, leading to significant environmental and health consequences. Beyond its ecological implications, emerging evidence highlights the profound impact of climate change on human health, particularly on endocrine function. Rising global temperatures, increased exposure to particulate matter, endocrine-disrupting chemicals (EDCs), and shifts in dietary patterns pose significant challenges to hormonal homeostasis. This review critically examines the intricate relationship between carbon emissions, climate change, environmental pollutants, and endocrine disorders, including diabetes, thyroid dysfunction, reproductive health, and metabolic diseases. Additionally, we discuss potential mitigation strategies-including policy interventions, dietary modifications, and sustainable lifestyle practices-to safeguard endocrine health while addressing environmental sustainability. Recognizing and addressing the endocrine implications of climate change is essential for developing effective public health interventions aimed at mitigating long-term health risks.

Breast cancer, the most common hormone responsive cancer, is on a rise both globally and in India. With increased longevity of breast cancer survivors, addressing long-term complications such as osteoporosis is crucial. Several mechanisms contribute to the bone loss seen in breast cancer patients, including age, post-menopausal status, chemotherapy, and other adjuvant therapies received. Appropriate evaluation and counselling on the risks of therapy with aromatase inhibitors on bone health are much needed. Timely initiation of anti-resorptive medication can help improve bone mass, reduce the incidence of fractures, and improve quality of life.

The hypothalamo-neurohypophysial axis comprises magnocellular neurons in the supraoptic and paraventricular nuclei that traffic arginine vasopressin (AVP) and oxytocin (OXT) to the posterior pituitary for systemic release. AVP is the key endocrine determinant of water balance whereas OXT orchestrates parturition and lactation and shapes socio-emotional processing. AVP-D results from hypothalamic-posterior pituitary injury and presents with hypotonic polyuria, polydipsia, and vulnerability to dehydration when access to water is limited. The diagnostic task is to separate AVP-D from AVP-R and primary polydipsia. Copeptin-based stimulation tests have transformed this work-up by providing accurate readouts of AVP secretion. Treatment relies on individualized desmopressin with patient education to prevent hypernatremia and desmopressin-associated hyponatremia. OXT deficiency is only now entering clinical focus. It likely accompanies AVP-D in lesions affecting the hypothalamus/posterior pituitary and may contribute to social dysfunction, anxiety, and reduced quality of life; however, validated diagnostic tools and definitive therapeutic data are still lacking.

Introduction: Iodine intake influences the incidence of thyroid diseases (TD), but data on its impact after iodine prophylaxis correction remains limited. This study analyzes TD incidence in a part of a country with sufficient iodine status since 2003, covering the period from 1984 to 2021, and evaluates changes following the 1999 iodine prophylaxis correction.

Methods: This retrospective longitudinal study reviewed 20,880 medical records from a secondary medical center. Demographic and TD data were analyzed descriptively to compare trends before and after the 1999 iodine prophylaxis correction.

Results: Among 20,880 patients aged 46.63 ± 15.06 years, 18,182 (87.1%) were female. Hypothyroidism (40.43%) and euthyroid nodular goiter (ENG) (28.7%) were predominant TD. Before the iodine prophylaxis correction, the mean patient age was 40.03 ± 13.03 years, with ENG (27.29%), hyperthyroidism (24.78%), euthyroid diffuse goiter (EDG) (24.94%), and hypothyroidism (15.84%) dominating. After the 1999 iodine prophylaxis correction, the overall incidence of TD, mean age (47.54 ± 15.1 years), male representation (P < 0.001), and hypothyroidism (43.78%, P < 0.001) increased, while EDG (11.73%), hyperthyroidism (12.28%), toxic nodular goiter (1.42%), and thyroid carcinoma (0.16%) declined (overall P < 0.001). ENG incidence (28.89%, P = 0.102) remained unchanged.

Conclusion: Hypothyroidism and ENG were the predominant thyroid disorders in the area. Corrected iodine prophylaxis increased overall TD incidence, age at diagnosis, male representation, and hypothyroidism while reducing most other TD incidences. The stable ENG incidence requires further investigation. Continued monitoring is essential to improve public health strategies for TD management.

Introduction: Adrenal insufficiency (AI) is more prevalent in people living with human immunodeficiency virus (HIV) (PLHIV) than in the general population, yet screening is infrequent. Untreated disease may have grave consequences, including death. This study assessed AI's prevalence and predictive factors in both stable and advanced PLHIV Indian populations and their short-term outcomes.

Methods: Participants were classified based on World Health Organization (WHO) clinical stage and cluster of differentiation (CD) 4 count. Group 1 included those with advanced disease (CD4 < 200 or stage 3/4), while Group 2 had stable disease (CD4 > 200, stage 1/2). An Acton Prolongatum^® (Ferring Pharmaceuticals, India) stimulation test measured cortisol at 0, 60 and 120 min. Baseline characteristics and risk factors were compared between AI and non-AI patients, with follow-up for clinical outcomes.

Results: In Group 1, AI was observed in 30.56% and 19.44% of participants at stimulated 120-min cortisol levels below 19.5 μg/dL and 18 μg/dL, respectively, while in Group 2, it was seen in 71.43% and 48.57%, respectively. In univariate analysis for predicting AI, hyponatraemia emerged as a significant variable (odds ratio (OR): 10.8, 95% confidence interval (CI): 1.2-97.7, P = 0.009), especially in advanced HIV (Group 1) (91% vs. 48%, P = 0.01). Group 1 exhibited significantly higher basal cortisol levels (median 14.3 vs. 10.3, P < 0.001), lower dehydroepiandrosterone sulphate (DHEA-S) (75% vs. 40%, P = 0.003), and a higher cortisol/DHEA-S ratio (63.9% vs. 5.7%, P < 0.001) compared to Group 2.

Conclusion: AI is prevalent in PLHIV, emphasizing the need for screening. Hyponatraemia may aid targeted screening. Low DHEA-S, elevated basal cortisol and high cortisol/DHEA-S ratios are markers of advanced HIV and increased mortality.

Introduction: Non-alcoholic fatty liver disease (NAFLD) and sarcopenia are increasingly identified in People Living with Human Immunodeficiency Virus (HIV) (PLHIV), contributing to cardiometabolic risk. This study aims to assess the prevalence and sarcometabolic associations of NAFLD in PLHIV.

Methods: The study included 60 clinically stable patients on anti-retroviral treatment (>1 year). Patients with liver diseases, Hepatitis B/C, and significant alcohol intake were excluded. Hepatic inflammation was assessed via FibroScan-AST score (FAST), steatosis via Controlled Attenuation Parameter obtained from Fibroscan, and fibrosis using APRI, FIB-4, and Liver Stiffness Measurement. Sarcopenia was assessed using hand grip strength measured using a hydraulic dynamometer and skeletal muscle mass via Dual-Energy X-ray Absorptiometry. Sarcometabolic parameters were compared between PLHIV with and without NAFLD.

Results: The study enrolled 60 patients (mean age: 37.12 ± 9.26 years; 46 (76.67%) males). The NAFLD frequency was 20%, with the majority having grade 3 steatosis. Hepatic inflammation (FAST score) was higher in NAFLD group (0.34 vs 0.12, P = 0.001). Obesity (body mass index) was significantly higher in NAFLD (66.67% vs 18.75%), P = 0.002}. The sarcopenia prevalence was 10%, with pre-sarcopenia (low muscle mass) of 45%. The muscle strength and mass were higher in NAFLD patients but not statistically significant. High triglycerides was a significant NAFLD risk factor {adjusted OR: 5.75 (1.11-29.73)}.

Conclusion: NAFLD prevalence in stable Indian PLHIV is significant considering a high cardiovascular disease risk in this population. Hypertriglyceridemia seems to be significantly associated as a risk factor. Return to health and nutrition have positively impacted muscle health with a downside of developing fatty liver.

Introduction: Transfusion-dependent beta-thalassemia (TDT) leads to iron overload, contributing to glucose intolerance through insulin resistance and pancreatic beta-cell dysfunction. The reliability of HbA1c in diagnosing diabetes mellitus in TDT is questionable due to altered red blood cell dynamics. Fructosamine, reflecting short-term glycaemia, offers a potential alternative. This study assesses the utility of HbA1c and fructosamine in evaluating glucose tolerance in adult TDT patients.

Methods: In this cross-sectional study, 61 adult TDT patients were recruited from a tertiary care centre in North India. Glucose tolerance was assessed using fasting plasma glucose (FPG) and a 2-hour oral glucose tolerance test (2Hr-OGTT) as gold standards. HbA1c and serum fructosamine levels were measured. Sensitivity, specificity, and diagnostic accuracy of these two tests and their correlation with FPG and 2Hr-OGTT were analysed.

Results: Among the 61 patients of TDT (median age: 27 years), 63.9% had normal glucose tolerance (NGT), while 36.1% exhibited glucose intolerance (24.6% prediabetes, 11.5% diabetes). HbA1c and fructosamine were significantly elevated in glucose-intolerant patients compared to those with NGT. HbA1c significantly correlated with FPG (rho = 0.42, P < 0.001) and 2Hr-OGTT (rho = 0.319, P = 0.012), whereas fructosamine did not show any correlation with either FPG or 2Hr-OGTT. Using standard cut-offs, HbA1c demonstrated higher sensitivity (86%) but lower specificity (31%) compared to fructosamine (46% sensitivity, 74% specificity).

Conclusion: While both markers were elevated in glucose-intolerant TDT patients, their diagnostic reliability remains limited. FPG and 2Hr-OGTT remain the gold standard for diagnosing glucose intolerance in TDT.