ESPE Abstracts

Introduction: /Purpose: Graves' disease is the most common cause of hyperthyroidism in children and adolescents. It is an autoimmune disorder characterized by stimulating autoantibodies, leading to increased thyroid hormone release and thyrotoxicosis. Early initiation and long-term treatment, remission, and definitive treatment with thyroidectomy or radioactive iodine present a challenge. This study aims to record the data of patients with Graves' disease foll...

Introduction: Diabetic retinopathy is a leading microvascular complication and preventable cause of vision loss. NHS diabetes eye screening program (DESP) assesses for early signs, with population prevalence between 3.5% and 24.2%. Understanding the factors involved is important to reduce morbidity.Aims and objectives: Establish clinical characteristics and modifiable risk factors for patients with retinopathy identified...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

Real-world studies reporting the impact of continuous glucose monitoring (CGM) in children with Type 1 diabetes (T1D) are limited. In April 2017 CGM became fully subsidised in Australia for children with T1D <21yrs. We report the impact of this in a large population based sample of paediatric diabetes (n=1093). Almost all (99%) children (age < 18yr) with diabetes in Western Australia attend a single paediatric diabetes centre.Pri...

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...

Case presentation: A 3 years 10 months old British white girl presented with rapid weight gain of 11 kg over 4 months, hirsutism, central obesity, moon face, buffalo hump and hypertension.Investigations: Plasma cortisol, IGF-1 and ACTH levels were elevated. The 9am plasma cortisol was 1035 nmol/l (140–500) with simultaneous plasma ACTH 13 pmol/l (1–11). Plasma cortisol and ACTH levels responded to both dexamethasone suppression and CRH stimulat...

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...