ESPE Abstracts

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...

Introduction: The annual incidence of severe influenza infections reaches 5 million cases globally. Patients with diabetes mellitus (DM) are known to suffer more severe influenza infections, with increased mortality. Despite vaccination being recommended as standard of care, vaccination uptake rates have remained low for our DM patients. We undertook a quality improvement (QI) initiative to improve influenza vaccination uptake rates in our paediatric DM clinic...

Introduction: Our study aimed to describe the clinical profile of children with central precocious puberty (CPP) presenting to a single tertiary centre, and to determine the factors that would lead patients and families to pursue treatment with gonadotrophin releasing hormone (GnRH) agonist as well as the predictors of a more favourable final adult height in this cohort.Methods: We conducted a retrospective medical chart...

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

Background: Hypospadias is a common characteristic of Disorders of Sex Development (DSD). At the present time a molecular diagnosis is not reached in over 50% of cases. The DDD Study represents a useful resource of large molecular and phenotypic datasets obtained from individuals with an undiagnosed developmental abnormality including DSD.Objective: To review associated features and identify likely pathogenic variants in previously undiagnosed DDD partic...

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

Background: Hypopituitarism is characterized by deficiency of one or more anterior pituitary hormones. POU1F1 mutations are the second most frequent known cause of combined pituitary hormone deficiency (CPHD). Patients are typically deficient in GH, TSH, and prolactin, although two unrelated cases were reported with isolated GH deficiency (IGHD). To date, all POU1F1 mutations have been reported for the predominantly expressed alpha isoform, which is a transcr...

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...

Background: Neonatal diabetes mellitus (NDM) is a relatively rare form of monogenic diabetes and usually presents in the first 6–9 months of life. In this study, our objective was to report the clinical details, perform a detailed genetic analysis and acquire a clinical–phenotype correlation of our cohort.Materials and methods: NDM patients referred to SN Endocrine centre between period of Nov 2014 to April 2017 and patients under follow-up wit...