ESPE Abstracts

Case presentation: A 7 year old boy was presented to us with height acceleration, symmetric breast development equivalent to Tanner stage B2 and sparse dark hair in the pubic region (PH2). Testicular volume equaled to 2ml, while external genitalia showed no clear signs of androgen effect. The patient’s biological father is a transgender woman who started a medical gender transition before the patient’s birth. She has been continuously receiving tra...

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine...

Background: Final height (FH) is reduced in congenital adrenal hyperplasia (CAH), due both to overtreatment by hydrocortisone therapy and to advanced epiphyseal closure linked to hyperandrogenism by Hydrocortisone therapeutic insufficiency.Objective and hypotheses: To evaluate the efficacy and safety of the addition of an androgen receptor competitor and an aromatase inhibitor to reduced hydrocortisone doses.Method...

Background: On reviewing practical aspects of intravenous bisphosphonate use in our tertiary Children’s Hospital, we noted disparity between departments who prescribed these drugs. This included issues pertinent to patient safety and hospital management, e.g. the need for overnight admission for the first infusion, blood tests and monitoring for adverse events (AEs). We therefore decided to survey the practices of other tertiary Paediatric Endocrinology Centres.<p cla...

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

Background: Leprechaunism, due to a mutation of both alleles of insulin receptor gene, is a most severe and precociously life-threatening condition, difficult to treat.Objective and hypotheses: In leprechaunism rhIGF1 may replace insulin through I the insulin-like metabolic properties of its own receptor.Method: rh IGF1 was continuously subcutaneously administered through a.pump from the age of four months and adjusted according to...

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...

Background: Continuous glucose monitoring (CGM) measures interstitial glucose and displays trend arrows, showing the direction and rate of change in glucose. Trend arrows allow the child/youth to take action to prevent hyper- and hypoglycaemia. Effective strategies for adjusting insulin for trend arrows are lacking. The JDRF CGM Study Group recommended a 10–20% increase/decrease in the insulin dose. However, the bolus dose is dependent on amount of food to be consumed and...