ESPE Abstracts

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...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

Introduction: Nutritional education is a cornerstone in the management of the type 1 diabetic patient in combination with insulin and physical activity. The objective of our study was to explore the nutritional profiles of type 1 diabetic children during their first hospitalization.Materials and methods: This is a retrospective descriptive study carried out 100 type 1 diabetic patients less than 15 years old hospitalized in the Endocrino...

Introduction: Pituitary tumors are rare in children and adolescents. The etiology is dominated by craniopharyngiomas. The main clinical presentation is the tumoral syndrome. These lesions often affect growth and pubertal development. The objective of our work is to study the clinical and etiological characteristics of pituitary tumors in the pediatric population.Materials and Methods: This is a retrospective descriptive study involving 0...