ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

Prior to menopause, it is known that women have a lower risk of cardiovascular disease (CVD) and coronary heart disease compared to age-matched men; it is reported that women have around half the CVD risk and almost a 10-year delay in first myocardial infarction event compared to men. Sex differences in serum lipids could contribute to CVD risk through driving atherosclerosis, the buildup of lipids in the sub-endothelial intimal layer of medium-sized to large arteries. We hypo...

Introduction: Exposure to chronic stress and hypercortisolism is associated with decreased leukocyte telomere length (LTL), a marker for accelerated biological aging and cardiovascular disease. Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. The aim of our study was to investigate LTL in children with CAH and its relation with CAH subtype, daily glucocorticoid dose and treatment quality.Method...

Background: Hydroxychloroquine sulfate (HCQS) is an immunomodulatory drug used to treat various rheumatological conditions. However, its effect on preserving β-cell function in type 1 diabetes remains unclear.Objective: To determine the differences in C-peptide (fasting and post mixed meal) and HbA1c in children with new-onset T1D on hydroxychloroquine therapy versus placebo.Methods:</...

Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder that typically occurs within the first 6 months of life. However, there is limited information from India about the clinical characteristics, treatment, and long-term outcomes for children with NDM. This study aims to provide a comprehensive overview of one of India's largest cohorts of children with NDM. These children were treated at a single referral center in North India over a ...

Background: Puberty is a crucial developmental stage marked by the transition from childhood to adulthood, organized by complex hormonal signaling within the neuroendocrine system. The hypothalamus, a central region in this system, regulates pubertal functions through the hypothalamic-pituitary-gonadal (HPG) axis. Gonadotropin-releasing hormone (GnRH) neurons, essential in puberty control, release GnRH in a pulsatile manner, initiating the production of sex ho...

Introduction: Childhood obesity has reached epidemic proportions in contemporary societies with multiple comorbidities. Social stigma, low self-esteem, depression, anxiety, and behavioral problems are noted in youth with excess adiposity, and may persist for a long time. The aim of our study was to assess the alterations in cardiometabolic risk factors and mental health in children and adolescents with excess adiposity following the implementation of a multidi...

Introduction: Primary hypoparathyroidism is a rare cause of hypocalcemia, complicating various disorders. Clinical presentation ranges from asymptomatic patients to paresthesia, cramps, seizures, stridor, laryngospasm, cardiac arrhythmias, basal ganglia calcification, subcapsular cataracts, and dental enamel hypoplasia. This study aims to present the cases of two patients with rare causes of primary hypoparathyroidism and highlight the need for standardization...

Introduction: Sex differences associated with inflammation have been observed across numerous autoimmune and cardiometabolic conditions. We aim ed to explore the differential impact of sex hormones/sex chromosomes on molecular pathways potentially relevant for immune cell functions using a unique post-pubertal transgender cohort.Methods: RNA-sequencing was performed on peripheral blood mononuclear cells (PBMCs) from a he...