ESPE Abstracts

Introduction: Congenital Hyperinsulinemic hypolglycemia (CHI) is a rare genetic disorder resulting severe hypoglycaemia secondary to excessive insulin release from the pancreatic cells. Its early diagnosis is imperative to prevent irreversible brain damage by hypoglycemia. Genetic testing and 18-F-DOPA scan help to confirm the diagnosis.Case: A 2.7 kg male baby was born at term to non-consanguineous parents by normal vaginal delivery. On day 4 of life th...

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hyperphagia and abnormal behaviours towards food for both of which no approved treatment is available. Elevated plasma acylated ghrelin (AG) documented at all ages in PWS suggest that the ghrelin system may contribute to the pathophysiology of hyperphagia. Administration of unacylated ghrelin and 8-amino acid analog AZP-531 prevents AG-induced food consumption in animals and improves glucose co...

Background: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Objective/hypotheses/method/results: Case series Case 1: Two-month...

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

Background: The development of fetal thyroid gland and its function in fetus and newborn are influenced by maternal iodine supplementation and maternal disorders of thyroid gland. Pregnant and lactating women are considered a risk group, although the Czech Republic ranks among countries with sufficient iodine supply. In case of maternal iodine deficiency, fetus is more susceptible to other factors influencing fetal thyroid gland development and function and also its neurologic...

Background/aims: Several studies demonstrated rapid growth during the first year of life in infants with congenital adrenal hyperplasia (CAH) which has a considerable effect on final adult height. Whether decreased height potential is caused by inadequate suppression of adrenal androgens, excess steroid therapy or salt wasting itself is a matter of debate. Thus, we aimed to analyze growth pattern in infants with CAH during first year of life and the effect of therapy on those ...

Background: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease, presenting with salt wasting and failure to thrive in early infancy. It is caused by inactivating mutations of the CYP11B2 gene.Objective and hypotheses: Our objective was to describe a Japanese patient with ASD, who presented with failure to thrive and salt wasting.Method: We present a case report and investigate molecular analysis of CYP11B2 ...

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...

Background: We recently described that 27.8% of patients treated with recombinant human GH (r-hGH) using the easypod had an adherence (AD) rate of <85.7% i.e. missing one r-GH dose per week. Overall AD of all investigated patients during the first 2 years of treatment was generally high (mean 90.2%).Objective: To evaluate the importance of high AD rate of r-GH administration over the first 2 years of r-hGH treatment on growth velocity and increase of...