ESPE Abstracts

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Introduction: The Middle East and North Africa (MENA) region has witnessed increasing number of researchers over last decade; for example, in-between 2015 and 2016, the number of researchers (in full time equivalent) per 1 million inhabitants was 2.4K in UAE, 1.1K in Morocco, 680 in Egypt, 604 in Qatar and 242 in Oman. Research and Development investment among Arabic countries was the highest in Tunisia, Egypt, Morocco, Saudi Arabia and the United Arab Emirate...

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

Background: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) amongst adult and paediatric endocrinologists. AI can present insidiously and symptoms may be non-specific. The number of medical indications for glucocorticoids is growing and SST usage is correspondingly increasing. There is evidence that an early morning plasma cortisol (EMC) of below ~100–150 nmol/l is highly predictive of failing the SST and the cor...

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) worldwide. Symptoms of AI are frequently non-specific, often delaying diagnosis, however fortunately cases of adrenal crisis remain relatively rare. Diagnostic cut-offs for plasma cortisol on SST are controversial, made more complicated by modern assays and paediatric normative values extrapolated from adult data. Some advocate a division between biochemical ...

Background: For many patients with high-risk cancers, allogeneic stem cell transplant (SCT) is the only curative option. A major risk of SCT is acute graft versus host disease (aGVHD). About 50% of SCT patients develop aGVHD as a part of their course. Glucocorticoids are the mainstay of therapy in aGVHD patients. Of the patients that develop aGVHD, about 50% develop a steroid refractory/resistant form. These patients tend to require higher doses of steroids and many will requi...

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hormone resistance due to defect of the α subunit of the stimulatory G protein (Gsα). Hypocalcemia due to parathyroid hormone (PTH) resistance is common. PHP1a determined by maternal LoF mutations in GNAS, presents severe obesity as early feature with increased risk of developing metabolic derangement during life. The aim of the study was to evaluate the metabolic alteration in a population of...

Background: Congenital hyperinsulinism possesses considerable clinical heterogeneity attributed partly to its diverse genetic causes.Objective: To present a boy with diazoxide unresponsive hyperinsulinaemic hypoglycaemia due to a homozygous recessive ABCC8 missense mutation, previously reported to be dominant acting and being inherited by his unaffected heterozygous parents.Material and results: The boy was a third preterm child of...

Background: Different formulations of gonadotropin-releasing hormone agonist (GnRHa) are available for the treatment of central precocious puberty (CPP). Currently there are few data on quarterly formulation depot (11.25 mg) during treatment.Aim: The purpose of this study is to analyse the effect of Triptorelin 11.25 mg 3-months depot in comparison with the monthly 3.75 mg formulation at the beginning and during the treatment of CPP.<p class="abstext...