ESPE Abstracts

Introduction: Insulin regulates the activity of lipoprotein lipase, the enzyme responsible for triglyceride metabolism. Although mild hypertriglyceridemia is seen in diabetic patients, severe hypertriglyceridemia (>1000 mg/dl) is extremely rare in the pediatric population. We present a case of co-existence of new onset diabetic ketoacidosis (DKA) with severe hypertriglyceridemia, together with therapeutic outcome.Case: A 9-year-old, ...

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

Introduction: Mammalian sex development is directly dependent on gonadal determination. Whole exome sequencing in patients with differences of sex development (DSD) allows the discovery of new factors involved in human sex development. One of these factors is NWD1 (NACHT and WD repeat domain containing 1) a cytosolic protein that seems to play a role in modulating androgen receptor signaling. We identified variants in the NWD1 gene in six und...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Neonatal severe primary hyperparathyroidism (NSHPT) is a rare and life-threatening disorder caused by inactivating mutation in CASR gene, which encodes Ca-sensing receptor. NSHPT leads to severe neonatal hypercalcemia with inappropriately increased serum intact parathyroid hormone (iPTH) and decreased urinary Ca excretion. Hydration, forced diuresis, calcitonin, bisphosphonates and cinacalcet have been used to lower serum Ca prior to surgery. Total parathyroidectomy i...

Abstract: Steroidogenic factor 1 (SF1)/"nuclear receptor subfamily 5 group A member 1" (NR5A1) is involved in adrenal and gonadal development, steroidogenesis and reproduction. The first patient, published in 1999 presented with a 46,XY difference of sex development (DSD) and adrenal insufficiency. The following year the first female patient with only adrenal insufficiency was described. Since then, heterozygous changes in SF-1/NR5A1 causing 46,XY DSD ...

Background: Disorders (or differences) of sex development (DSD) are rare congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is important for male sex development. LHCGR mutations can cause Leydig cell hypoplasia, which is an autosomal recessive disorder.Objective and hypotheses: We found two heterozygous mutations in the LHCGR, a n...

Methods: Patients commenced 0.75mg/kg carbimazole (CBZ) daily with randomisation to either BR or DT. We examined baseline patient characteristics, CBZ dose, time to serum TSH/FT4 normalisation and BMI Z-score. Results: There were data available from 80 patients (baseline) and 78 patients (61 female) at 6 months. Mean CBZ dose was 0.9 mg/kg/day (BR) and 0.5 mg/kg/day (DT). There was no difference in the time taken for...

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...

Background: Up to 20% of infants referred on newborn congenital hypothyroidism (CH) screening are subsequently shown to have transient TSH elevation rather than permanent CH. Correct identification of such cases is important to avoid prolonged treatment with thyroxine and unnecessary clinic attendance.Objective: To determine the prevalence, trends and profile of infants with transient TSH elevation referred between August 1979 and December 2015 by the Sc...