ESPE Abstracts

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

Introduction: The main problem of contemporary diabetology is to prevent chronic complications of carbohydrate metabolism disorders according to DM1 and obesity (pre-disposing for DM2). The task is to find simple tools that allow rapid identification of vascular lesions and early treatment intervention.Aim of the study: The aim of the study was to evaluate parameters of CBP in patients with DM1 and obesityMaterials and methods: The...

Introduction: in countries with highly developed health information systems (HIS), early detection of short stature (SS) is facilitated by automated anthropometric calculations, with warning alarms and automated referrals when prespecified conditions are met (poor growth velocity etc.). In countries where available HIS resources are insufficient for implementation of complex automated systems for growth supervision, much simpler, graphical-based growth electro...

Introduction: Dichotomous nature of current definition of metabolic syndrome (MS) in youth results in loss of information. On the other hand, the complex calculation of continuous MS scores using standardized residuals in linear regression (Z scores) or factor scores of principal component analysis (PCA) is demanding and highly impractical for clinical use. Recently, a novel, easily calculated continuous MS score called Pediatric siMS score (PsiMS score) was developed based on...

Introduction: GnRH test is standard in confirming the diagnosis of central precocious puberty (CPP). However, GnRH (Relefact) is not always readily available in Serbia and several other countries. Two studies so far have assessed use of triptorelin in diagnosing CPP, with different sampling protocols, and in only one of these studies were triptorelin test findings compared to GnRH test findings.Objective: To evaluate the diagnostic accuracy of triptoreli...

Background: Cystic fibrosis related diabetes (CFRD) is one of the most common complications of CF. CFRD has great impact on progressive deterioration of lung function, poor growth and increased mortality. The need for early detection of disturbance in glucose metabolism was recognized long ago. Current recommendations include screening that begins at age of 10 by performing oral glucose tolerance test (OGTT) but it cannot reveal the initial glucose disturbances. Many centres a...

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare genetic condition characterised by generalised, partial target-tissue insensitivity to glucocorticoids owing to inactivating mutations of the NR3C1 gene.Case presentation: An 8.5-year-old boy was hospitalized because of precocious puberty and arterial hypertension. Over the last year, the appearance of pubic hair and gynecomastia were noted. At the local centre, high leve...