Indian Journal of Endocrinology and Metabolism最新文献

Introduction: Gestational diabetes mellitus (GDM) is a frequent pregnancy complication. Increasing evidence suggests that environmental factors, such as exposure to Bisphenol A (BPA), may contribute to the development of GDM. This study aims to evaluate the association between BPA exposure and GDM in an Indian population.

Methods: This observational, cross-sectional study was conducted at the outpatient clinics of the Department of Medicine and Department of Obstetrics and Gynecology and in collaboration with the Department of Biochemistry at a tertiary care and teaching hospital in North India. The study included 161 pregnant women divided into two groups: those with GDM and those with normal oral glucose tolerance test (OGTT). Participants' urinary BPA levels were measured, and statistical analyses were performed to determine correlations between urinary BPA levels and GDM.

Results: The mean urinary BPA level was significantly higher in the GDM group (41.17 μg/L) compared to the non-GDM group (14.19 μg/L), with a P value <0.01. Correlation analysis showed a strong positive association between BPA levels and OGTT results in the GDM group. The linear correlation graph formula y = 1.7443x + 168.84 can predict urinary BPA level based on OGTT glucose level.

Conclusion: The study underscores the significant association between elevated urine BPA level and GDM, suggesting that BPA exposure may be a risk factor for this condition. Compared to previous studies, our research highlights the specific impact of BPA on GDM in the Indian context. The results advocate for reducing BPA exposure to mitigate the risk of GDM and related metabolic disorders.

Introduction: Structured education is an integral part of type 1 diabetes (T1D) care. In India, while several programmes exist for type 2 diabetes, structured educational initiatives for people with T1D (PwT1D) and key stakeholders are lacking. The type 1 diabetes education (T1DE) programme was developed to address this gap.

Methods: T1DE is a structured ten-session online course delivered free of cost in regional languages, targeting PwT1D, caregivers, nutritionists, paramedical staff, and physicians. Developed using the analysis, design, development, implementation, and evaluation (ADDIE) instructional model, the programme was evaluated using a mixed-methods approach-tracking attendance, assessments, qualification rates, and participant feedback.

Results: In the year 2023-2024, out of 1023 registrants, 81.2% (831) initiated the course. Among them, 50.5% (420) met the minimum attendance criteria, and 301 appeared for the final certification test. The pass rate was 89.4%, with a mean test score of 81 ± 15%. Final certification was awarded to 32.4% (269/831) of those initiating the course. Nutritionists constituted the largest group (23.2%) with the highest qualification and pass rates. Physicians showed similarly high levels of engagement and success. PwT1D accounted for only 16% of participants, and their qualification rates were the lowest. Both trainers and trainees rated the programme highly, emphasizing content relevance and quality. Attrition remained a challenge, consistent with global patterns in diabetes education.

Conclusion: T1DE is India's largest structured T1D education initiative, offering evidence-based, inclusive training without financial burden. The programme has demonstrated high knowledge gains among those who completed it, though long-term outcome measures and sustained engagement remain areas for future work.

Introduction: Primary adrenal insufficiency (PAI) results from inadequate adrenal hormone production due to adrenal cortex dysfunction. While congenital adrenal hyperplasia (CAH) is the most common cause in children, non-CAH causes are rare and often associated with specific genetic mutations. This study aims to explore the genetic, clinical, and biochemical spectrum of non-CAH PAI in South Indian children.

Methods: This retrospective study reviewed records of children under 18 years diagnosed with PAI at a tertiary care centre between January 2016 and December 2023. Data on clinical presentation, biochemical parameters, genetic findings, and treatment responses were analysed.

Results: Twelve patients (11 index) (7 males, 5 females) with non-CAH PAI were identified, with a median age of 2.5 years at diagnosis. Common symptoms included hyperpigmentation (100%), recurrent infections, gastrointestinal issues, and growth delays. Genetic analysis identified seven distinct mutations: AAAS, MC2R, ABCD1, CYP11A1, NNT, NROB1, and TXNRD2. All 12 patients were initiated on glucocorticoids, and six were also initiated on fludrocortisone.

Conclusion: This study highlights the genetic and clinical spectrum of non-CAH PAI in South India, emphasising the importance of early diagnosis and genetic profiling. The findings suggest a high prevalence of consanguinity and specific mutations, underscoring the need for genetic testing in resource-limited settings. Future research should focus on expanding genetic databases and evaluating long-term outcomes to refine treatment strategies and improve patient care.

Introduction: Near-total parathyroidectomy (NPTX) could provide persistent improvements in dysregulated mineral metabolism, leading to a reduction in all-cause and cardiovascular (CV) mortality by reducing coronary artery calcium score (CACS) in refractory secondary hyperparathyroidism (SHPT). In this study, we have attempted to compare the effect of NPTX and cinacalcet therapy in patients with refractory SHPT on dialysis, with regard to their effects on CACS and FGF-23.

Methods: A total of 14 patients with refractory SHPT were followed prospectively. Five patients were enrolled in the NPTX arm and nine in the cinacalcet arm. Demographics, CACS, biochemical, and hormonal analysis were performed at baseline with a planned follow-up of 1 year.

Results: The NPTX group showed a more favourable change in total calcification score over 1 year compared to the cinacalcet group, with a mean difference of 625.6 units. After NPTX, CACS was stable or reduced (<15% per year increase in CACS) in four of five (80%) patients. In the cinacalcet group, for those with a very severe baseline CACS (>400), there was a progression in the CACS. In the NPTX group, iPTH and FGF 23 reduced significantly after 1 year with an iPTH of 58.00 (8.5-76) pg/mL (P < 0.001) and FGF 23 of 5.4 (5.4-7.9) pg/mL (P < 0.04), respectively.

Conclusion: NTPTX resulted in amelioration of dysregulated mineral metabolism, leading to reduction or stabilization of CACS. There was also a marked reduction in FGF-23 levels following NPTX, which may be the principal factor in preventing the progression of CACS.

Immune checkpoint inhibitors (ICIs) have revolutionised cancer therapy by enhancing T-cell-mediated tumour eradication. However, their use is associated with immune-related adverse events, with endocrinopathies being the most common. Thyroid dysfunction, hypophysitis, primary adrenal insufficiency (PAI), and insulin-dependent diabetes mellitus are well-documented complications. Thyroid dysfunction typically follows a biphasic course, with transient thyrotoxicosis progressing to hypothyroidism. Hypophysitis primarily affects the anterior pituitary, often leading to isolated adrenocorticotropic hormone deficiency. ICI-induced diabetes mellitus results from autoimmune β-cell destruction, frequently presenting as diabetic ketoacidosis. Primary adrenal insufficiency is rare but requires prompt recognition. Despite these endocrine toxicities, the benefits of ICIs outweigh their risks, and treatment is usually continued with appropriate hormone replacement. Early recognition and management of these endocrinopathies are crucial for optimising patient outcomes. This review summarises the incidence, pathophysiology, diagnosis, and management of ICI-associated endocrine disorders, providing essential insights for oncologists and endocrinologists.

Introduction: Cationic trypsinogen (PRSS1) gene mutation is responsible for hereditary pancreatitis (HP) with clinical outcomes like abdominal pain, diabetes mellitus and pancreatic cancer. The present study aims to screen PRSS1 (A16V, R122C and R122H) gene polymorphism in the Bangladeshi population, categorized as normal glucose tolerant (NGT), prediabetes (PD) and type 2 diabetes (T2D).

Methods: Blood was collected from the study subjects with overnight fasting (8-10 h), and 2 h after 75 g glucose intake orally. Serum was used for biochemical analyses, and whole blood for genetic analysis. Biochemical parameters were measured following a standard procedure. Anthropometric, clinical and biochemical abnormalities were defined and classified as per World Health Organization (WHO) guidelines for the population from Asia. Genetic analysis was done following the polymerase chain reaction-restriction fragment length polymorphism method standardized in our laboratory. Data were analyzed with the SPSS Software (version 22), IBM Corporation, USA.

Results: For the PRSS1 genotype, a total of 559 subjects were screened. R122H and R122C variant genotypes were absent in all subjects' categories. However, three heterozygous variant genotypes A16V (1.3%) in the trypsinogen gene were found in the NGT subjects group. Abdominal pain in the subjects was significantly higher in the A16V variant genotype compared to subjects with no abdominal pain (Fisher's exact/P, 7.256/0.027). A significant positive correlation was observed with the A16V genotype for the abdominal pain (P = 0.008) and DBP (P = 0.026) of the study subjects.

Conclusion: PRSS1 A16V, R122C and R122H variants have no relationship with prediabetic and/or type 2 diabetic subjects of Bangladesh. However, abdominal pain was significantly related to the PRSS1 A16V variant.

The management of hypothyroidism is based on the assumption that levothyroxine monotherapy normalizes thyroid hormone homeostasis, rendering patients clinically and biochemically euthyroid. However, a subset of patients treated with levothyroxine (LT4) are dissatisfied as they continue to have symptoms such as fatigue, weight gain, and difficulty in concentration. Some patients do not achieve normalization of thyroid-stimulating hormone despite adherence to adequate LT4 dosing. It has been proposed that liothyronine (LT3) may benefit such patients. This review addresses the specific role of LT3 in the management of hypothyroidism with an emphasis on practical considerations and a focus on appropriate patient selection. It identifies clinical challenges where patient outcomes are improved by adding LT3 to LT4 therapy, including myxedema coma, preoperative management, and situations where swift resolution of hypothyroidism is warranted. Further, it addresses the challenges faced in dose titration of LT4 and LT3 and the importance of monitoring therapy with LT3.

Introduction: Charcot neuroarthropathy (CNO) of foot characterised by an increased bone turnover denoted by serological markers of bone resorption. However, histological characteristics of foot bones in people with CNO are not well elucidated.

Methods: The foot bone samples were collected from patients who had either surgical reconstruction or below-knee amputations for chronic CNO foot (n = 10, Group A), unsalvageable diabetic foot ulcer (n = 16, Group B), and non-diabetic healthy controls following road traffic accident (n = 16, group C). Calcaneum bones retrieved were processed and sections (Haemotoxylin and Eosin, Masson-Goldner stain) evaluated for quantitative histopathological parameters including bony trabeculae number, trabeculae thinning, osteoclast number, Howship's lacunae, and Haversian canal.

Results: The mean age of participants in the CNO group was 61.6 ± 5.0 and 62.9 ± 6.5 years in diabetic neuropathy group with duration of diabetes 13.1 ± 6.8 and 14.1 ± 9.1 years with HbA1c of 7.6 ± 1.8% and 8.7 ± 2.6 in group A and B, respectively. We observed that normal bone trabeculae were 15% (10-37.5) in group A and 60% (47.5-82.5) in group B as compared to controls (P = <0.001). Thin bone trabeculae (%) were observed in 10% (3.5-77.5) and 7.5% (0-30), P =<0.001), with increased Howship's lacunae number (1.5 [0.25-2] and 1 [0-2.25] (P = <0.001)) and increased osteoclast number in group A and B as compared to healthy controls.

Conclusions: There is an increased bone resorption in CNO causing thinning of bone trabeculae secondary to increased osteoclast numbers and Howship's lacunae in CNO of foot. Anti-resorptive therapies that target osteoclast activity may be an appealing treatment option for diabetic CNO of foot.