The roles of abdominal visceral (VAT) and subcutaneous adipose tissue (SAT) in the molecular pathogenesis type-2 diabetics (T2D) among Asian Indians showing a “thin fat” phenotype largely remains obscure. In this study, we generated transcription profiles in biopsies of these adipose depots obtained during surgery in 19 diabetics (M: F ratio, 8:11) and 16 (M: F ratio 5:11) age- and BMI-matched non-diabetics. Gene set enrichment analysis (GSEA) was used for comparing transcription profile and showed that 19 gene sets, enriching inflammation and immune system-related pathways, were upregulated in diabetics with F.D.R. <25% and >25%, respectively, in VAT and SAT. Moreover, 13 out of the 19 significantly enriched pathways in VAT were among the top 20 pathways in SAT. On comparison of VAT vs. SAT among diabetics, none of the gene sets were found significant at F.D.R. <25%. The Weighted Gene Correlation Analysis (WGCNA) analysis of the correlation between measures of average gene expression and overall connectivity between VAT and SAT was significantly positive. Several modules of co-expressed genes in both the depots showed a bidirectional correlation with various diabetes-related intermediate phenotypic traits. They enriched several diabetes pathogenicity marker pathways, such as inflammation, adipogenesis, etc. It is concluded that, in Asian Indians, diabetes pathology inflicts similar molecular alternations in VAT and SAT, which are more intense in the former. Both adipose depots possibly play a role in the pathophysiology of T2D, and whether it is protective or pathogenic also depends on the nature of modules of co-expressed genes contained in them.

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Osteoporosis and fragility fractures are a major public health issue. Secondary osteoporosis is characterised by the presence of an underlying disease, deficiency, or use of a drug. Conditions that increase speculation for secondary osteoporosis include fragility fractures amongst the younger men or premenopausal women, markedly decreased Bone Mineral Density (BMD) values, and fractures despite conforming to anti-osteoporotic therapy. Since the emphasis is on the treatment of the primary disorder, a diagnosis of osteoporosis and thus the opportunity of preventive intervention can be missed. With this review, the authors objective is to emphasise the importance of secondary osteoporosis, discuss the causes and their mechanism and summarise treatment options.

Context Precise genotype-phenotype correlations in Turner syndrome (TS) have not yet been deciphered. The chromosomal basis of the clinical TS-phenotype in the absence of X chromosome aberrations on the conventional karyotyping remains more and less unexplored. Objective To elucidate the high resolution chromosomal picture and analyze the genotype -phenotype associations in girls with clinical phenotype of TS by chromosomal microarray (CMA). Design and Patients: Cross sectional observational study conducted between October 2018 to January 2020 on 47 girls presenting the clinical TS-phenotype and fulfilling the criteria for chromosomal analysis. Setting Out Patient Department at Department of Endocrinology and the Molecular research lab at tertiary care teaching institution. Results The CNV (copy number variation) polymorphs were more frequent on autosomes than X chromosomes and they were detected in 89.3%, 61.7 %, and 92.8 % of patients respectively on chromosome 14 or X or both. Total 445 and 64 CNV polymorphs were discovered on chromosome X and 14 respectively. The latter exhibiting either gain at 14q32.33 or loss at 14q11.2 or both. Karyotype was available for 27 patients; 55.6% cases displayed X chromosome abnormalities while 44.4% cases had a normal karyotype. Functional interactomes of the genes those were present in Chromosome 14 CNVs and those known to be associated with TS showed an overlap of 67% and enriched various development-related cellular pathways underlying TS-phenotype. Conclusions On high resolution karyotype analysis, clinical phenotype of TS could be found associated with CNV defects in autosomes (specifically Chr. 14,) or X chromosome or both. The syndrome of chromosome 14 CNVs defects with and without X-chromosomal defects clinically mimics TS and shares a common genomic network deserves further investigations.

<b><i>Background:</i></b> Whether HAIR-AN syndrome and polycystic ovarian syndrome (PCOS) are distinct entities or represent a phenotypic spectrum of the same syndrome is still unclear. HAIR-AN syndrome is characterized by high insulin resistance, obesity, and hyperinsulinemia as compared to PCOS and could represent adipose tissue dysfunction as the primary pathophysiologic trigger. This study was undertaken to study the role of adipose tissue dysfunction in HAIR-AN syndrome and PCOS using adipocytokines as surrogate markers of “adiposopathy.” <b><i>Materials and Methods:</i></b> A cross-sectional observational study was conducted at a tertiary care hospital over a period of 1 year. Serum adiponectin, leptin, IL-6, and TNF-α levels were measured in 30 women with HAIR-AN syndrome and in 30 women with PCOS. Correlations between adipocytokines, inflammatory markers, serum testosterone, and serum insulin were determined. Data analysis was performed using the SPSS version 23.0 (IBM SPSS Statistics Inc., Chicago, IL, USA) software program. <b><i>Results:</i></b> Women with HAIR-AN syndrome had significantly higher hyperandrogenemia, hyperinsulinemia, and insulin resistance as compared to PCOS women. They also had high leptin levels and lower adiponectin levels (<i>p</i> &#x3c; 0.001). However, the levels of inflammatory markers (TNF-α and IL-6) were similar in both the groups (<i>p</i> &#x3e; 0.05). Serum adiponectin showed a negative correlation with HOMA-IR and testosterone levels, while leptin showed a positive correlation with both in HAIR-AN patients while no such correlation was found in the PCOS group. <b><i>Conclusion:</i></b> The significantly raised adipocytokines in HAIR-AN syndrome patients as compared to PCOS patients indicates the primary role of adipose tissue dysfunction (“adiposopathy”) in the pathogenesis of HAIR-AN syndrome while only a minor role, if any, in PCOS. Both these syndromes stand as distinct entities pathogenically with an overlapping phenotype.