ESPE Abstracts

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

Background: Arnold-Chiari malformations (CM), types I-IV, refer to a spectrum of congenital hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. CM-I is defined as tonsillar herniation of 3–5 mm below the foramen magnum and is the most common and the least severe of the spectrum.Objective and hypotheses: Children with CM-I usually are asymptomatic and often diagnosed in adulthood, therefore early presentation of ...

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

Introduction: Osteogenesis imperfecta (OI) is a rare heterozygous disorder of collagen production. It is characterized by low bone mass, bone fragility, blue sclera, and progressive hearing loss. Expanded Sillence Classification divides OI into 7 types with Type I OI as the mildest and commonest form. Hyperplastic callus (HC) is a rare but characteristic complication in patients with OI type V. We report a infant with Type I OI with hyperplastic callus.<p ...

Background: To achieve the compensation of type 1 diabetes, psychological factors that contain individual psychological characteristics of the patient’s personality, his emotional state and responsibility for his own health are important.Objective and hypotheses: The purpose of the study was to study the specifics of responsibility for the health of adolescents with type I diabetes of different sex, depending on the level of glycemic control (GC).</...

Background: Pathogenic IGFI gene mutations causing childhood growth failure are rare. Only 5 autosomal recessive mutations, one IGFI copy number variant and 2 heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations have not previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnat...

Background and Objectives: In adults, discordant associations exist between insulin-like growth factor-I (IGF-I) and blood pressure with scarce reports in apparently healthy children. IGF-I levels increase during puberty in parallel to calcium and phosphorus levels. In this context, our aim is to study the association between IGF-I and blood pressure in apparently healthy children, together with the interaction of the serum calcium-phosphorus product (Ca*P...

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born ...