ESPE Abstracts

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

Background: Familial isolated growth hormone deficiency (IGHD) type II is autosomal dominantly inherited and caused by splice-site mutations and nucleotide substitutions in the GH1 gene. The missense mutation R183H is a well-described genetic variant that causes familial IGHD type II. Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature.Objective and hypotheses: This study aimed to repo...

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was...

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

A 20-year old lady with poorly controlled type 1 diabetes mellitus diagnosed since 9 years old, comorbidities of hyperlipidemia and steatohepatitis as well as a history of smoking, presented with an acute 2-day history of involuntary, writhing movements of her left upper and lower limbs. Physical examination confirmed left mild hemiparesis with hemichorea-athetosis. Emergent MRI brain demonstrated abnormal signal in the right caudate nucleus and lentiform nucleus (low T2W/FLAI...

Background: Single nucleotide polymorphisms (SNPs) within the promotor and 5’UTR of the transcriptional factor, ZBTB38, are associated with adult height and idiopathic short stature although their precise auxological effects have not previously been described. In addition, the molecular mechanisms through which ZBTB38 affects growth have not been fully elucidated but potential downstream mediators are suggested to include MCM10 or IGF2.Objectives: <...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...