ESPE Abstracts

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we present data on 11/52 subjects (all girls) who developed fused growth plates during the phase 2 study CL201 (NCT02163577).In CL201, 52 subjects (Baseline: 5-12 years-old, Tanner ≤ 2) were randomized 1:1 to recei...

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...

Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...

Introduction: Familiar short stature (FSS) is a common variant of growth with heterogeneous etiology. Children with FSS are often excluded from further check-up and treatment. However, significant number of children with FSS comply even with the European criteria for growth hormone (GH) therapy – patients with SHOX-deficiency, growth hormone deficiency (GHD) or these born short for gestational age (SGA). The aim of the study was to identify genetic etiology of short statu...

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

Background: The COVID-19 crisis required paediatric endocrinologists to rapidly adopt telehealth into their clinical practice. Accurate auxology is a cornerstone of paediatric endocrinology care and is needed to monitor growth and guide medication changes. Remote consultations depend upon parent-reported measurements. However, home height measurements are often inaccurate.Aim: We designed a quality improvement study with...

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

Introduction: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare life-limiting paediatric condition, with about 200 reported cases worldwide. The disease typically presents in early childhood (1.5-5y) with rapid-onset obesity. Other clinical symptoms may include central hypoventilation, hypothalamo-pituitary (H-P) dysfunction (hyperprolactinaemia, salt-water imbalances, anterior pituitary deficits...