Indian Journal of Endocrinology and Metabolism最新文献

Introduction: Tumour-induced osteomalacia (TIO) is rare. At our referral centre, we see a substantial number of TIO. Therefore, we planned to study their profile and treatment outcomes to provide insight in management.

Methods: This ambispective study evaluated 43 patients with TIO treated at our centre (2014-2024). Patients were grouped into (a) Localised TIO (n = 31; histopathology suggesting phosphaturic mesenchymal tumour or disease remission and (b) Unlocalised TIO (n = 12; occult tumour and negative genetic testing for hereditory hypophosphatemic disorders).

Results: The mean age of participants was 40.9 ± 13.4 years. The median diagnostic delay was 3 years from symptom onset. Bone pain, muscle weakness, fractures, teeth loss, and palpable lump were presenting features. Two had intact fibroblast growth factor 23 (iFGF23) in normal range. No significant clinical bias existed between tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) calculated using second void urine and 24-h urine samples. The most common location was lower limbs (41.9%), followed by head and neck (32.3%). Tracer avid lesions on Ga-68-DOTANOC-positron emission tomography/computed tomography (PET/CT) were noted in 30/43 (69.8%) patients. Of the 13 patients negative on somatostatin receptor-based imaging, only one showed tracer avid lesion on F-18-fluorodeoxyglucose-PET/CT scan. Disease remission was documented in 19/24 (79.2%) patients undergoing surgical excision and 1/5 (20%) treated with radiofrequency ablation. After successful intervention, plasma iFGF23 levels normalised by Day-3, tubular reabsorption of phosphate and TmP/GFR by Day-4, and serum phosphate by Day-7. No patient with remission experienced relapse at a median follow-up of 4.25 years.

Conclusion: Ga-68-DOTANOC-PET/CT picked up maximum lesions, F-18-FDG-PET/CT picked up one additional lesion. Surgery was curative in most. Post successful intervention, iFGF23 normalised in all by the third day.

Introduction: Gestational age, ethnicity, assay method, thyroid autoimmunity and iodine status of the community affect thyroid hormone levels in pregnancy, and there is a need to establish trimester-specific reference ranges for thyroid hormones across different regions of the world. There was no previous study regarding this from this part of the country. The aim of this study was to establish trimester-specific reference range for thyroid hormones during pregnancy in a tertiary care centre in Southern Odisha.

Methods: In this cross-sectional study a total of 676 (n = 180, 244 and 342 for first, second and third trimester, respectively) healthy pregnant women (18-40 years) carrying a singleton pregnancy were recruited after excluding women with history of chronic medical illness, personal or family history thyroid disorder, recurrent abortion, oligo/polyhydramnios, hyperemesis gravidarum, goitre, intake of drugs affecting thyroid hormones, anti-TPO antibody positivity (>60 IU/ml) and low maternal spot urinary iodine concentration (<150 μg/L). Serum free tri-iodothyronine (FT3), free tetra-iodothyronine (FT4) and thyroid stimulating hormone (TSH) were estimated for each trimester by chemiluminescence (CLIA) method and reference interval was expressed as 2.5^th and 97.5^th percentile.

Results: The reference interval for TSH was 0.12-4.10 μIU/ml, 0.55-3.97 μIU/ml and 0.46-4.31 μIU/ml for first, second and third trimester, respectively. The reference intervals for FT3 were 1.93-3.78 pg/ml, 2.06-3.55 pg/ml, 1.77-3.25 pg/ml and for FT4 were 0.78-1.50 ng/dl, 0.72-1.34 ng/dl, 0.70-1.31 ng/dl in the first, second and third trimester respectively.

Conclusion: The upper reference limit of TSH obtained from our study corroborates with that proposed by American Thyroid Association (2017).

Introduction: Benign adrenal tumours are frequently seen in endocrinology, affecting mostly men in middle aged. But incidentalomas are more common in the elderly. Functional adrenal tumours most commonly secrete cortisol, aldosterone and very rarely, oestrogen. But if mixed secretion is present (most commonly cortisol and androgen), it is prudent to suspect adrenal cortical carcinoma (ACC), which in fact is rare < 5% of all adrenal tumours. ACC-secreting estradiol is rarer, 1-2% of all adrenal tumours. Most feminizing adrenal tumours (FATs) are malignant with a very poor prognosis.

Methods: The study was a retrospective observational study conducted between January 2013-December 2023. Data was retrieved from the hospital information system.

Results: Out of 156 patient profiles screened for adrenal tumours, four were selected for analysis who had elevated estradiol levels. The mean age was 45 years, with all being males. Two patients had ACC and two had benign tumours. All four had painless gynaecomastia. Three patients had mild autonomous cortisol secretion (MACS) with worsening of diabetes, hypertension, and osteopenia. Estradiol levels were ranging from 301 to 3648 pmol/L. CT abdomen showed average size of tumour being 10.7 cm. Two patients had distant metastases to lung, liver, and bone. All underwent adrenalectomy, and one of them received post-adjuvant chemotherapy. Patients with ACC had Weiss score of 6. Postoperatively, two patients had decreased estradiol.

Conclusion: FATs are very rare in endocrinology, with most of them being ACC with a dire prognosis. Even with early diagnosis and treatment, the short-term survival is very poor.

Introduction: The relationship between Vitamin D (VitD) levels and cognitive function in young adults remains unclear, with conflicting results in existing literature. This study aimed to assess the prevalence of VitD deficiency and mild cognitive impairment (MCI) and to explore the correlation between serum VitD levels and cognitive functions in young indigenous adults in Meghalaya.

Methods: A hospital-based cross-sectional study was conducted in a tertiary care centre in Shillong, Meghalaya, involving 137 healthy young individuals associated with the centre. Serum VitD levels were measured and categorised according to the classifications of the Food and Nutrition Board, National Academies of Sciences, Engineering, and Medicine, and the Endocrine Society. Cognitive functions were assessed using the Montreal Cognitive Assessment scale.

Results: Based on the Endocrine Society Classification, 85.4% (95% CI: 78.5%-90.3%) of participants were found to be VitD-deficient, and 51.1% (95% CI: 42.4%-59.7%) had MCI. A statistically significant positive correlation was observed between serum VitD levels and cognitive functions (r = 0.096; P = 0.025). Adequate sun exposure was independently associated with higher serum VitD levels, and females were found to have better cognition.

Conclusion: The study revealed a high prevalence of VitD deficiency and MCI in the young indigenous population with an identified positive association between the two conditions. However, the findings highlight the need for large-scale, multi-centric, longitudinal studies with follow-up assessments to further understand these relationships.

Metabolomics is a type of laboratory science used to understand the cellular and metabolic defects in any disease process. It comprehensively identifies endogenous and exogenous low-molecular-weight (<1 kDa) molecules or metabolites in a high-throughput manner. Mass spectrometry-based methods are used for metabolomics which can be targeted and non-targeted. Metabolomics workflow consists of sample acquisition, its preparation and extraction, separation, ionisation, data analysis, and metabolite detection and identification. Some of the commonly elevated metabolomes are branched-chain amino acids like isoleucine, leucine, and valine in diabetes, carnitine and glutamate in osteoporosis, deoxycholic acid and betahydroxybutyrate in pituitary tumours, glutamic acid, valine, isoleucine for malignant thyroid nodules, L-asparagine, L-glutamine, dimethylarginine for hyperparathyroidism, tetrahydro-11-doxycortisol for adrenal tumours, and oxidised glutathione for hypogonadism. Knowing metabolomics can help us formulate personalised treatment choices for precision medicine in endocrinology. The main challenge ahead of metabolomics is its technical complexity and cost-benefit issues.

Introduction: Ectopic adrenocorticotropic hormone (ACTH)/corticotropin-releasing hormone production by tumours causes 5-10% of Cushing's syndrome cases. We present a 21-patient case series with ectopic Cushing's syndrome (ECS) from a tertiary care institute in India.

Methods: Data were collected retrospectively for patients from 1984 to 2004 and prospectively thereafter till 2019. This included clinical signs, diagnostic tests, comorbidities, imaging, management, outcomes, and follow-up data.

Results: In this study of 21 patients (14 males, mean age 32.4 ± 14 years) diagnosed with ECS, the mean lag period between the symptom onset and diagnosis was 15.9 ± 11.9 months. Predominant symptoms were proximal muscle weakness (85.7%), menstrual irregularity (85.7% of females), hyperpigmentation (76.2%), weight gain (61.9%), and infections (23.8%). Key signs included cuticular atrophy (100%), easy bruising (95.2%), and striae (71.4%). Despite 33.3% losing weight, 61.3% gained. 71.4% of the patients experienced diabetes, and 90.5% had hypertension as their metabolic complications. All patients exhibited disrupted cortisol circadian rhythms. The mean cortisol level at 0800 h was 1220 ± 556.2 nmol/L, while at 2300 h, it was 1108.3 ± 491.7 nmol/L. The median 0800-hour ACTH was 139 pg/ml. 22.2% displayed a paradoxical increase in morning cortisol post-high-dose dexamethasone suppression test. Thymic carcinoid is as prevalent as bronchial carcinoid in ECS causation.

Conclusion: ECS is rare, but it is crucial to distinguish it from Cushing's disease, as tumour removal is the preferred treatment. In Cushing's syndrome evaluations, ECS should always be considered since no single test is definitive for its diagnosis.