Abstract Introduction: Patients with prolactinoma in India usually present late with larger tumours and suboptimal treatment due to economic constraints. There is little information on quality of life (QoL) and impulsivity in prolactinoma patients from India. Methods: Patients with prolactinoma and healthy controls were asked to fill the SF-36 (Quality of Life), BIS-11 questionnaire (Impulse Control Disorders), PHQ-2 (Depression), and The Generalized Anxiety Disorder Scale-7 (Anxiety) questionnaires. Results: There were 51 prolactinoma patients and 50 age- and sex-matched controls. QoL as assessed by SF-36 was significantly poor in prolactinoma patients as compared to controls (62.11 ± 14.33 vs 75.58 ± 12.20). There was a negative correlation between general health, physical role limitation, and social functioning parameter of SF-36 and prolactin levels. Physical and emotional role limitation had significant negative correlation with tumour volume. A positive correlation was found between physical function parameters of SF-36 with FT4 (r = 0.31, P = 0.021), cortisol (r = 0.30, P = 0.049), and testosterone levels (r = 0.32, P = 0.023). The mean BIS-11 score was significantly higher among patients with prolactinoma compared to controls ( P = 0.002). Conclusion: Prolactinoma patients had significantly poorer QoL and higher impulsivity compared to controls. Hormonal and radiological parameters affect different facets of QoL in these patients, necessitating an individualised and holistic approach.
Abstract Spondyloocular syndrome (SOS) is a genetically determined bone fragility disorder marked by early vertebral collapse and consistent ocular involvement, most notably congenital cataracts. Owing to substantial clinical overlap, SOS is frequently misdiagnosed as osteogenesis imperfecta; however, multisystem involvement including coarse facial features, genitourinary anomalies, cardiac defects and hearing loss should prompt consideration of this distinct entity. The disorder arises from loss-of-function alterations in XYLT2 , which encodes xylosyltransferase-2, an enzyme essential for initiating proteoglycan glycosaminoglycan chain synthesis, and belongs to the expanding group of disorders known as linkeropathies. To date, only 27 cases have been reported worldwide. This review synthesises existing global evidence on SOS and highlights our clinical experience with zoledronic acid therapy, offering practical insights into diagnosis and management. Early recognition and timely genetic testing, particularly whole-exome sequencing, are essential to avoid diagnostic delay and optimise patient outcomes.
Abstract Introduction: Differentiating Graves’ disease (GD) from destructive thyroiditis (DT) is essential for appropriate management, but clinical overlap complicates diagnosis. Diiodotyrosine (DIT), released during follicular disruption, may serve as a mechanistically distinct biomarker. This study evaluated serum DIT’s diagnostic performance in differentiating DT from GD compared with established markers. Methods: Participants included 38 patients with GD, 28 with DT and 18 healthy controls. Diagnosis was based on clinical evaluation, biochemistry, thyrotropin receptor antibody (TRAb) assay and technetium-99m scintigraphy. Serum DIT was quantified using liquid chromatography–tandem mass spectrometry. ROC analysis determined diagnostic cutoffs and performance metrics. Results: Median serum DIT levels were significantly higher in the DT group (234.1 pg/mL, IQR 145.1–321.5) than in the GD (176.3 pg/mL, IQR 110.0–257.6) and control (92.1 pg/mL, IQR 45.9– 108.3) groups. DIT demonstrated moderate discriminatory performance (AUC 0.701), with 70% sensitivity and 75% specificity at a 150 pg/mL cutoff. TRAb and technetium uptake showed superior performance (AUC 0.97 each). Serum DIT correlated inversely with TRAb levels (r = −0.276, P = 0.025) and showed weak negative association with technetium uptake in GD. Conclusion: Serum DIT levels reflect follicular disruption and are elevated in DT. While inferior to TRAb and scintigraphy as a standalone test, DIT provides mechanistically complementary information and may serve as an adjunctive biomarker when conventional investigations are inconclusive, unavailable or contraindicated. Population-specific validation is required before routine implementation.
Abstract Biomarkers comprise various carbohydrates, proteins, lipids, genes and enzymes that indicate molecular, cellular or biochemical changes. They are paramount in detecting a disease at its earliest stages, monitoring treatment response and guiding drug development. This narrative review provides a concise overview of the latest advancements in biomarkers in endocrinology. Chromogranin A (CgA) is the most used biomarker in neuroendocrine tumours (NETs), and it correlates with tumour mass and patient survival. Cluster of differentiation 14 (CD14), CD99 and serum amyloid (SA) proteins such as SAA2 and SAA4 have been linked with inflammation and diabetes onset from pre-diabetes. Netrin-1 is a consistent biomarker in diabetic retinopathy, kidney disease and neuropathy. Thyroglobulin mRNA (Tg mRNA) and thyrotropin-stimulating hormone receptor (TSHR) mRNA are consistently detected as biomarkers in thyroid cancers. The sensitivity is increased when it is combined with a neck ultrasound. Even with various latest advances in biomarker discovery, their use is limited due to non-specificity and cumbersome laboratory assays.
Abstract Introduction: The role of RAP1A , widely implicated in osteoblast differentiation, is not fully understood. Therefore, the present study investigated how the inhibition of Rap1A -associated prenylation pathways affects gene expression profiles associated with osteogenesis and angiogenesis. Methods: The MG-63 cell line was treated with a selective RAP1A protein inhibitor (GGTI298–3 µM, 24 h), and osteogenic and angiogenic gene expression was assessed. Results: Pharmacological perturbation (GGTI298 treatment) of Rap1A-associated prenylation pathways led to broad suppression of key osteogenic differentiation markers, including bone morphogenetic protein 2, alkaline phosphatase, collagen type I alpha 1 chain and the transcription factor osterix. GGTI298 treatment also resulted in a dramatic reduction in RAP1A mRNA (~290-fold). FOXO1 , AMPK and VEGFA were downregulated. Notably, the master osteogenic regulator RUNX2 was upregulated (~12-fold). Conclusion: The downregulation of FOXO1 and AMPK suggests altered expression of genes associated with cellular energy sensing. VEGFA expression was reduced after GGTI298 treatment, possibly indicating disruption of angiogenic signalling. Downregulation of osteogenic differentiation markers indicates a potential association between Rap1A -associated pathways and osteogenic gene regulation, suggesting their involvement in molecular mechanisms relevant to bone biology.
