Adrenocortical Carcinoma: a Therapeutic Challenge - 44 Cases from a Single Tertiary Care Center in India.

This study was conducted among patients with adrenocortical carcinoma (ACC) to analyze their clinico-pathological profile, management outcomes, and risk factors for local recurrence, systemic metastasis, and survival. The data of patients with ACC who were managed at a single institution between January 2004 and December 2016 was retrospectively collected and analyzed using STATA 13.1.

WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.

Context: Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the progressive nature of the disease and a lack of complete clinical manifestations, a confirmed diagnosis of WFS at the time of onset of diabetes is a challenge.

Objective: With WFS1 rare heterozygous variants reported in diabetes, there is a need for comprehensive genetic screening strategies for the early diagnosis of WFS and delineating the phenotypic spectrum associated with the WFS1 gene variants in young-onset diabetes.

USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's disease.

Purpose: To estimate the prevalence of USP8, USP48, and BRAF mutations in patients with Cushing's disease (CD) from the Indian subcontinent, and determine their genotype-phenotype correlation.

Methods: We prospectively recruited 46 patients with CD who underwent surgery between September 2015 and July 2019 at our institute. Fresh frozen tumour tissue was obtained in all patients.

Impact of Experience on Outcomes After Endoscopic Transsphenoidal Surgery for Acromegaly.

Objective: Acromegaly is a syndrome of metabolic alterations secondary to increased growth hormone levels from a somatotroph pituitary adenoma. A multidisciplinary approach beginning with surgery, followed by adjuvant radiation or medical therapy for residual disease, is considered standard of care. Several factors affect the likelihood of remission after surgery, but the impact of surgical experience on remission rates has not been adequately assessed.

Selective perioperative steroid supplementation protocol in patients undergoing endoscopic transsphenoidal surgery for pituitary adenomas.

Background: There is no consensus regarding the use of perioperative steroids for transsphenoidal pituitary surgery. We audited the effectiveness and safety of our selective perioperative steroid supplementation protocol in patients with pituitary adenomas.

Methods: Two hundred ninety-seven patients underwent 306 endoscopic transsphenoidal surgeries for removal of their pituitary tumors.

Bone Health after Fifth Decade in Rural Ambulatory South Indian Postmenopausal Women.

Background: The incidence of postmenopausal osteoporosis continues to rise, as population ages. The morbidity and mortality associated with osteoporotic fractures have a significant negative impact on the economy and quality of life of the affected individual and the community, at large.

Objectives: We aimed to study the prevalence of osteoporosis in ambulant rural postmenopausal women, and to look at their dietary calcium intake (DCI) and Vitamin D status.

Osteoporosis knowledge and beliefs among postmenopausal women: A cross-sectional study from a teaching hospital in southern India.

Objectives: Osteoporosis continues to be underrecognized in many parts of India. This study was undertaken to assess the level of knowledge of osteoporosis among postmenopausal women referred for a dual-energy X-ray absorptiometry (DXA) scan in a teaching hospital in southern India.

Methodology: This cross-sectional study assessed the state of awareness in consecutive postmenopausal women referred for a DXA scan using a validated questionnaire - Osteoporosis Knowledge Assessment Tool.

Influence of Different Reference Databases on Categorization of Bone Mineral Density: A Study on Rural Postmenopausal Women from Southern India.

Background And Objectives: Currently available DXA (Dual energy X-ray Absorptiometry) scanners utilise bone mineral density (BMD) of Caucasian population to calculate T scores and categorise BMD. We studied the influence of various databases on classification of BMD in south-Indian postmenopausal women aged above 50 years.

Methodology: This was a cross-sectional study.

An uncommon cause of osteoporosis.

Osteoporosis in the younger age group is an important cause of morbidity. Prolactinoma is an uncommon but reversible cause of osteoporosis. The main mechanisms of osteoporosis in prolactinoma are reduced osteoblast activity and hypogonadism.

Measuring TSH receptor antibody to influence treatment choices in Graves' disease.

TSH receptor antibody (TRAb) plays a key role in the pathogenesis of Graves' disease (GD), and its levels correlate with the clinical course. The second- and third-generation TRAb assays have >95% sensitivity and specificity for the diagnosis of GD and have improved the utility of TRAb to predict relapse. TRAb levels decline with antithyroid drug (ATD) therapy and after thyroidectomy.

Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India.

Masked hypoglycemia in pregnancy.

Background: Hypoglycemia is a major hindrance for optimal glycemic control in women with gestational diabetes mellitus (GDM) on insulin. In the present study, masked hypoglycemia (glucose <2.77mmol/L for ≥30 min) was estimated in pregnant women using a continuous glucose monitoring (CGM) system.

Hypovitaminosis D and Other Risk Factors of Femoral Neck Fracture in South Indian Postmenopausal Women: A Pilot Study.

Background: Non-communicable diseases like hip fractures are a significant problem in a developing country like India. The risk factors for hip fractures vary according to local practices and the availability of preventive health care delivery systems. There is paucity of data on risk factors for hip fracture in the south Indian population.

Osteoporosis in healthy South Indian males and the influence of life style factors and vitamin d status on bone mineral density.

Objective. To study the prevalence of osteoporosis and vitamin D deficiency in healthy men and to explore the influence of various life style factors on bone mineral density (BMD) and also to look at number of subjects warranting treatment. Methods.

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Objective: To establish and utilize a Next-Generation Sequencing (NGS)-based strategy to screen for maturity onset diabetes of the young (MODY) gene mutations in subjects with early-onset diabetes.

Patients And Methods: Maturity onset diabetes of the young (MODY) genetic testing was carried out in 80 subjects of Asian Indian origin with young onset diabetes to identify mutations in a comprehensive panel of ten MODY genes. A novel multiplex polymerase chain reaction (PCR)-based target enrichment was established, followed by NGS on the Ion Torrent Personal Genome Machine (PGM).

Human immunodeficiency virus-associated lipodystrophy: an objective definition based on dual-energy x-ray absorptiometry-derived regional fat ratios in a South Asian population.

Objective: To develop an objective definition of human immunodeficiency virus (HIV)-associated lipodystrophy by using regional fat mass ratios and to assess the utility of anthropometric and skinfold measurements in the initial screening for lipodystrophy.

Methods: Male patients between 25 and 50 years old with proven HIV infection (highly active antiretroviral therapy [HAART]-naïve subjects and those receiving successful HAART) were studied and compared with body mass index (BMI)-matched HIV-negative control subjects. Anthropometric variables, body composition, dual-energy x-ray absorptiometry findings, and metabolic variables were compared among the 3 study groups and between those patients with and those without lipodystrophy.

Hypovitaminosis D and bone mineral density in human immunodeficiency virus-infected men from India, with or without antiretroviral therapy.

Objective: To study the vitamin D status and bone mineral density (BMD) in men infected with human immunodeficiency virus (HIV) in a tertiary care center from southern India.

Methods: We conducted a cross-sectional study of 35 HIV-infected men (between 20 and 50 years old) receiving highly active antiretroviral therapy (HAART) (group 1) in comparison with 35 age- and body mass index-matched HIV-positive antiretroviral therapy-naïve men (group 2) and 35 HIV-negative healthy control subjects (group 3).

Results: A significantly greater proportion (P = .