ESPE Abstracts

Background: Triple A (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia starts in early infancy, while achalasia and adrenal insufficiency appear subsequently during childhood or adulthood. We are presenting an infant with very early and simultaneous clinical manifestations of triple A syndrome.Case presentation: An 11-month-ol...

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...

Introduction: Small for gestational age (SGA) is a common condition affecting around 10% of all newborns, and it is associated with an increased risk of short stature and other health problems later in life. Growth hormone deficiency (GHD) is a well-known cause of growth failure in children, and it is estimated to affect approximately 1 in 4.000-10.000 children. However, the prevalence of GHD in SGA children with short stature is not well established. Early de...

Purpose: was to evaluate the interaction of caries risk indicators and metabolic control in children with type 1 diabetes mellitus.Methods: The study included 50 children with type 1 DM and 50 healthy controls. Diabetic children were classified into 3 groups: well, fairly, and poorly controlled based on glycosylated hemoglobin level. Personal, family data, medical and dental history were collected. Children were examined...

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

Background: The effect of maternal obesity and the associated maternal inflammation on neonatal and paediatric health and wellbeing over the early childhood years is not fully understood.Objective and hypotheses: This study aimed to determine the impact of maternal and fetal inflammatory factors on infant anthropometric measurements.Method: 265 mother–infant pairs from an RCT assessing the effect of a low glycaemic index diet ...

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...