Indian Journal of Endocrinology and Metabolism最新文献

Introduction: Any intervention to reduce the incidence of diabetes needs to target the young population at the stage of early insulin resistance or prediabetes. There are no screening guidelines for dysglycaemia in non-obese youth. This study was designed to find the best screening investigation for dysglycaemia in community-dwelling youth.

Methods: Using multistage sampling, community-dwelling non-obese subjects aged 18-30 years were assessed for diabetes using a 75 g oral glucose tolerance test [OGTT], fasting plasma glucose [FPG] and glycated haemoglobin (HbA1c) at a health facility near the participants' home. Diagnosis of dysglycaemia (diabetes and prediabetes) was made based on the American Diabetes Association (ADA) criteria.

Results: A total of 2540 participants from 74 family welfare centres with a mean age of 24.2 ± 3.5 years and 1292 female (50.8%) participants were included. Urban, rural, coastal and hilly regions contributed 661 (26%), 580 (22.8%), 656 (25.8%) and 643 (25.3%) participants, respectively, and 88.4% of participants came from the middle or lower middle class. Diabetes was detected in 59 (2.3%) and prediabetes in 568 (22.4%) of these young participants. The sensitivity of HbA1c with FPG in diagnosing diabetes mellitus (DM) and prediabetes was 87.87%, whereas the sensitivity of FPG and 2-h OGTT together was 44.2% (P < 0.001).

Conclusion: The prevalence of dysglycaemia in non-obese Indian youth is alarmingly high. There is an urgent need to define screening strategies for dysglycaemia in this population. Based on this study, universal screening for dysglycaemia using HbA1c and FPG in early adulthood is recommended.

Introduction: Anti-Mullerian hormone (AMH) is a key regulator of ovarian folliculogenesis. Obesity, insulin resistance (IR), hyperandrogenism, and gonadotropins have an inconclusive role in the relation and regulation of AMH to polycystic ovarian syndrome (PCOS).

Methods: PCOS cases (n = 80) and matched controls (n = 80) were evaluated with AMH levels and correlated with age, body mass index (BMI), insulin levels, IR, insulin sensitivity (IS), gonadotropins, and androgens.

Results: Women with PCOS had significantly higher levels of AMH than controls (5.79 ± 4.00 ng/mL in obese cases vs 2.88 ± 2.38 ng/mL in obese controls, P = 0.006; 6.59 ± 4.13 ng/mL in lean cases vs 3.62 ± 2.04 ng/mL in lean controls, P < 0.001). AMH levels did not differ significantly amongst cases with respect to hyperandrogenism, BMI, and PCO morphology. However, women with PCOS who had irregular cycles had significantly greater AMH levels than those with regular menstrual cycles (6.27 ± 4.03 ng/mL vs 2.36 ± 2.02 ng/mL, P = 0.031). There was a negative correlation between AMH and BMI in all four groups, but reached significance only in lean PCOS. AMH did not correlate with insulin levels, HOMA-IR, or IS in any of the four groups. In lean PCOS, AMH correlated significantly with DHEAS (r = 0.424), androstenedione (r = 0.413), testosterone (r = 0.502), and SHBG (r = 0.412). In obese PCOS, AMH associated positively with androstenedione (r = 0.490) and testosterone (r = 0.402).

Conclusion: BMI, IR, and androgens might differentially regulate AMH levels in lean and obese PCOS. AMH levels were higher in the subset of PCOS with irregular menses than in those with regular cycles; thus, higher AMH indicates a more severe disease state in PCOS.

Introduction: Acromegaly is a chronic systemic disease characterized by excessive secretion of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). This study reviews our experience with endoscopic transsphenoidal surgery (TSS) in acromegaly patients, focusing on remission rates according to the 2023 consensus criteria.

Methods: We conducted a hospital based, retrospective study involving 42 patients diagnosed with acromegaly who underwent endoscopic TSS, between January 2020 and June 2024. Clinical and hormonal profiles, comorbidities and outcome data were analysed. Remission was defined as age-adjusted IGF-1 levels 3 months post-surgery.

Results: Mean age at diagnosis was 36.43 ± 10.70 years. The two most frequent presenting symptoms were headache (64.28%) and visual deficits (47.61%). Common comorbidities included diabetes mellitus (23.8%) and hypertension (28.57%). Pre-operative hormonal evaluation revealed secondary hypogonadism in 41.66% of patients, followed by hypothyroidism (23.81%) and cortisol deficiency (21.43%). Biochemical remission was achieved in 18 out of 42 patients (42.85%), including all five patients with microadenomas and 35.13% of those with macroadenomas. Although Knosp grade, maximum tumour diameter and pre-operative post glucose growth hormone levels showed significant associations in univariate analyses, these associations were not significant after adjustment. On multivariate analysis, post-operative day 2 GH levels (≤2.75 ng/ml) emerged as a significant predictor of remission.

Conclusions: This study provides the comprehensive review of clinical presentations and outcomes of patients with acromegaly based on the latest acromegaly consensus guidelines. Notably, a post-operative day 2 GH less than 2.75 ng/ml emerged as a significant predictor of outcome.

Premature Ovarian Insufficiency (POI) poses complex medical, emotional and ethical challenges, especially in conservative societies like India. This narrative highlights an endocrinologist's experience in managing a young woman with POI, emphasizing the profound emotional distress and societal implications, particularly regarding subfertility and an impending marriage. The case explores the nuanced approach required to deliver this life-altering diagnosis with empathy, address the patient's and family's emotional needs, and offer psychological support alongside fertility options and hormone replacement therapy. Ethical considerations, including patient autonomy, confidentiality, and the delicate decision of disclosing the diagnosis to a prospective groom, are also examined. The narrative underscores the importance of cultural sensitivity and the endocrinologist's role in mitigating societal stigma. It illustrates the broader responsibilities of healthcare providers, who must navigate these multifaceted challenges with compassion, providing medical care and emotional and ethical guidance to help patients and their families cope with the impact of POI.

Parathyroidectomy (PTX) treats hyperparathyroidism, but it can lead to significant cardiac complications. This systematic review analyses the incidence, types, risk factors, pathophysiological mechanisms, and management strategies of cardiac complications following PTX. Following PRISMA guidelines, a systematic search of PubMed and Europe PMC up to May 2024 included 62 studies. Cardiac complications identified included early and delayed reversible cardiac failure, tachyarrhythmias (such as atrial fibrillation and ventricular tachyarrhythmia), chest pain, myocardial infarction mimic, hypotension, and other two rare complications. Rapid calcium level changes and thyrotoxicosis post-surgery were the significant contributors to the complications. Vigilant monitoring and management are essential for favourable outcomes post-PTX. Comprehensive preoperative evaluation, meticulous intraoperative monitoring, and tailored postoperative care are crucial. Further research is needed to refine management protocols and improve patient safety.

The current study aims to report cases of immune reconstitution inflammatory syndrome (IRIS) following Cushing's syndrome (CS) treatment and elucidate various presentations of IRIS and its management. A single-centre study was conducted in individuals with endogenous CS who presented with immune reconstitution inflammatory syndrome after CS remission. A literature review was also conducted to describe the previous reporting of IRIS. Nine cases from the author's centre were identified. Out of 9 cases, one case was ectopic CS, who presented with CNS vasculitis following excision of the primary lesion. Other 8 cases were Cushing's disease (CD) presented with diverse IRIS manifestations in the form of thyroiditis, oculomotor neuritis, extraocular muscle palsy, episcleritis, bell's palsy, rheumatoid arthritis (RA) and Charcot neuroarthropathy, with the time of presentation from less than 1 month till 24 months. The most common IRIS described in the literature is thyroid dysfunction, and the time of presentation of IRIS is variable from less than one month to 5 years. Immune reconstitution inflammatory syndrome is a unique and rare post-operative complication after CS remission, affecting various organ systems due to rebound immunity.

Introduction: Type 2 diabetes mellitus has traditionally been considered a lifelong disease, with treatment focused on glycaemic control and complication prevention. Emerging evidence suggests that targeting glucolipotoxicity and insulin resistance may restore beta-cell function, potentially leading to remission. This study aimed to evaluate the feasibility of achieving diabetes remission through pharmacotherapy by promoting weight loss and maintaining strict glycaemic control over a 3-month period.

Methods: This is a single-centre, open-label, randomised controlled trial conducted at a tertiary care center in India, with adult subjects with type 2 diabetes mellitus <5 years duration and HbA1c <8.5% randomised to an intervention arm using liraglutide, dapagliflozin and metformin, and a control arm using vildagliptin, glimepiride and metformin. The subjects were treated for 3 months followed by an off-treatment period for 3 months to assess for remission of diabetes.

Results: Two hundred thirty-six subjects were assessed for eligibility and 29 subjects underwent randomisation. Fourteen subjects were randomised to the intervention arm and 15 subjects were randomised to the control arm. Twenty-three of the 29 recruited subjects completed the trial. At the end of the off-treatment period, nine patients (31.04%) were in remission, with 4 out of 14 patients (28.57%) in the intervention arm and 5 out of 15 patients (33.33%) in the control arm maintaining HbA1c less than 6.5% without any treatment. No baseline clinical or biochemical parameters were found to be reliable predictors of remission.

Conclusion: This trial provides evidence that pharmacotherapy targeting tight glycaemic control on an outpatient basis is effective in achieving diabetes remission.

Introduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic profiles.

Methods: The study included patients with genetically proven hypophosphatasia managed at different healthcare centers in South India. The participants' case records were reviewed, and relevant phenotypic and genotypic information was collected and analyzed.

Results: Case 1 presented at 4 months of age for failure to thrive, found to have persistent hypercalcemia for which she received bisphosphonate therapy. A low alkaline phosphatase was recognized later. Case 2 presented during adolescence with bilateral genu valgus and delayed dentition with classical tongue-like translucencies on radiology and low alkaline phosphatase. Genetic evaluation in cases 1 and 2 revealed compound heterozygous variants in the ALPL gene. Case 1 received asfotase alfa with remarkable improvement in growth. Case 3 presented with multiple vertebral fractures at 33 years of age whereas cases 4 (42 years) and 5 (63 years) presented with musculoskeletal pains with delayed diagnosis for 8 and 13 years, respectively. Cases 3-5 had heterozygous variants in the ALPL gene.

Conclusions: In the largest case series of hypophosphatasia from India, we report five cases of hypophosphatasia with two novel variants. Our study emphasizes the need to increase awareness regarding the disease to improve its early diagnosis and also, the need to form strategies to reduce the challenges in obtaining enzyme replacement therapy for hypophosphatasia in India.

Introduction: Liver fibrosis in metabolic dysfunction-associated steatotic liver disease (MASLD) is strongly related to hepatic and extrahepatic outcomes. Clinically Significant Liver Fibrosis (CSLF) screening using FIB-4 score is mandated in all T2D patients. The existing FIB-4 cutoff of 1.3 is derived from Western studies and could differ for Indians. Hence, we aimed to determine the FIB-4 cutoff to rule out Transient Elastography (TE) proven CSLF among Indians with T2D.

Methods: 551 individuals with T2D underwent laboratory tests for FIB-4 calculation and transient elastography (TE) to detect CSLF defined as Liver Stiffness Measurement (LSM) ≥ 8kPa. The Receiver Operative Characteristic (ROC) curve was used to determine the optimum cutoff value of FIB4 to rule out CSLF.

Results: 129 (23.4%) of 551 T2D patients in our cohort had CSLF. We found that a FIB-4 of 1.5 rules out CSLF with a sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and Diagnostic Accuracy (DA) of 82.9%, 79.9%, 55.7%, 93.8%, and 80.6%, respectively, compared with a FIB4 of 1.3 which has values of 91.5%, 67.3%, 46.1%, 96.2%, and 72.9%, respectively.

Conclusion: A FIB-4 cutoff of 1.5 rather than 1.3 is suggested for Indian subjects with T2DM and needs to be validated in further large multicenter prospective studies, preferably with histopathology as the gold standard.