ESPE Abstracts

Background: Polycystic ovarian syndrome (PCOS) is the most common endocrine disease among women of reproductive age with a prevalence of about 8% according to the Androgen Excess Society (AES) criteria. The pathophysiology of PCOS is not well understood and it is associated with a high prevalence of metabolic disorders. During puberty, irregular menses and acne are common, thus making the diagnosis of PCOS in adolescence challenging.Objective and hypothe...

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...

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

Background: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...