ESPE Abstracts

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

Background: Kallmann syndrome (KS) is a rare clinical entity, characterized by the association of hipogonadotropic hypogonadism and hypo/anosmia, with an estimated prevalence of 1:8000 in males and 1:40 000 in females.Method: Retrospective study of cases of KS diagnosed in paediatric age. Genetic analysis was performed by PCR and DNA sequencing of KAL1, FGFR1, GNRHR, GNRH1, PROK2, PROKR2, KISS1R, TAC3, TACR3, and FGF8 genes.Results...

Background: Disorders of sex development (DSD) characterize incomplete or disorganized genital or gonadal development. One in 4500 births requires genetic and endocrine studies due to abnormal external genitalia or gonadal dysgenesis and only 50% of the cases receive a definitive diagnosis. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF1, a transcription factor, are responsib...

Background: Functional insulin therapy allows precise insulin adjustments to achieve normoglycaemia.Objective and hypotheses: To assess metabolic control (A1c) and lipid profile in children and adolescents with DM1 in a 3-year period under multiple daily injections (MDI) since the diagnosis.Method: Retrospective analysis of children and adolescents under functional insulin therapy since the diagnosis of DM1. The variables studied w...

Background: Recent interest has focused on a unique subgroup of overweight and obese individuals who have normal metabolic features (MHO) despite increased BMI. According to the WHO obesity is considered a disease itself. In the light of the WHO statement it is most strange to speak about healthy and unhealthy obesity. Nevertheless, we all know that a certain portion of obese persons are free from some (most frequently investigated) obesity-related metabolic consequences.<...

The high rate of false-positive (FP) results in congenital adrenal hyperplasia newborn screening (CAH-NBS) worldwide challenges NBS-programs and reinforces the need of high specificity subsequent tests. Few studies assessed the efficacy of different serum steroids by the available methodologies. Serum 21-deoxycortisol-21DF demonstrated a high diagnostic accuracy in CAH children/adults but was not evaluated in the NBS context. Objective: to evaluate the efficacy of confirmatory...

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...

Introduction: Previous studies have demonstrated that hypertension may begin early in the life. Under physiological conditions, the Renin-Angiotensin-Aldosterone System (RAAS) is highly variable due to variations in salt intake and other factors, making it difficult to interpret results. We measured aldosterone and renin, and compared them with sodium and potassium excretion in a normotensive pre-pubertal population.Methods: A cross-sectional study was ...