Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.

Familial glucocorticoid deficiency disorders are a group of autosomal recessive disorders with variable phenotypes. Early diagnosis aids with effective treatment. This case discusses a couple who had come with a history of neonatal deaths and a spontaneous abortion for genetic counselling regarding the current pregnancy.

Change in Grading of Stunting in Children aged 0-5 years in a Tertiary Hospital in Western India by Using WHO vs. Indian References.

Objectives: To classify under 5-y-old children into normal, short, severe short and tall categories as per WHO (2006) and Indian 2019 synthetic growth charts and to compare the change in the proportion of stunted children based on these two charts.

Methods: This study was done on 1557 (795 boys) apparently healthy children of age group 0-5 y who attended outpatient clinics for routine vaccination and their stature categories were compared on WHO 2006 vs. 2019 Indian synthetic charts.

Establishing the Cut-Off Values of 17-Hydroxyprogesterone for Diagnosing Congenital Adrenal Hyperplasia: A Prospective Observational Study in a Tertiary Care Hospital.

Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents in two classical forms: salt-wasting (SW) and simple virilizing (SV). Although CAH is rare in India, regional variations and the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis.

Prevalence of Mutations in Patients With Resected Stage I to III Nonsquamous Non-Small Cell Lung Cancer: Results of India Cohort.

Purpose: The spectrum of is inadequately researched in patients with early-stage non-small cell lung cancer (NSCLC) in India. EARLY-epidermal growth factor receptor (EGFR) India (ClinicalTrials.gov identifier: NCT04742192), as part of a noninterventional, real-world global study, evaluated the prevalence of mutations in early-stage NSCLC in India.