ESPE Abstracts

Introduction: Aggrecan is a major proteoglycan component of the articular and growth plate extracellular matrix, encoded by the ACAN gene (MIM: 155760). Although short stature and various dysmorphic findings are observed in individuals with ACAN mutations, the relationship between genotype and phenotype is not clear.Case: A 6.75-year-old pre-pubertal girl presented with disproportionate short stature. She was full term f...

Introduction: Luscan-Lumish syndrome (LLS) is a postnatal overgrowth syndrome characterized by macrocephaly, mental retardation, seizures, postnatal overgrowth, and developmental delay, caused by a heterozygous mutation in the SETD2 gene on chromosome 3p21, which exhibits autosomal dominant inheritance.Case Report: A ten-year-old girl presented with menarche. She was born to healthy non-consanguineous parents at 37 weeks...

Introduction: Fulminant type 1 diabetes (FT1D) occurs because of a sudden and almost total destruction of pancreatic β-cells, triggered by a viral infection. FT1DM may cause diabetic ketoacidosis (DKA) and even sudden death. Thus prompt diagnosis is vital.Case Report: Antibiotic treatment was started for a 4-year-old female patient because of a fever and cough. On the second day of treatment, she was admitted with r...

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

Keywords: diabetes, MODY, atypicalIntroduction: Type 1 Diabetes (T1D) is the most common cause of diabetes in childhood, but Type 2 Diabetes (T2D) and monogenic diabetes has attracted increasing attention recently. Cases with atypical diabetes may be challenging for diagnosis, treatment and follow-up management. The purpose of this study was to present the characteristics of atypical diabetes cases from a tertiary referr...

Introduction: Prader-Willi Syndrome (PWS) is characterized by severe neonatal hypotonia and feeding difficulty with subsequent hyperphagia, hypogonadism, and short stature. PWS has a prevalence of 1 in 10,000-30,000. Obesity-related complications occur from early childhood onwards. Liraglutide is a glucagon-like peptide-1 (GLP-1) analog that reduces appetite and body weight and improves glycemic control. Scarcity of oxytocin-producing neurons in the hypothalam...

Background: The diagnosis of turner syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosis and treatment there still remain patients with TS who present late with delayed puberty. Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypotheses: To assess the effect of late GH ...

Background: Steroid 5-α reductase type 2 (SRD5A2) deficiency is an rare inherited disorder resulting from mutations in the SRD5A2 gene, causing 46,XY DSD (Disorder of Sex Development). The mutated SRD5A2 enzyme can no longer convert testosterone to dihydrotestosterone, which is needed for virilisation of external genitalia.Objective and hypotheses: To describe the phenotype, investigations and management of SRD5A2 deficiency.<p class="a...

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...