ESPE Abstracts

Background: The condition when a person’s gender identity does not match the gender assigned at birth is called gender incongruence (GI). GI numbers increased tremendously over the last decade. Diabetes mellitus – type 1 and type 2 – is a severe and lifelong disease. GI combined with diabetes may potentiate the burden for affected people.Objective: The study aimed to characterize people with GI and diab...

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

Background: Over the last two decades, treatment of type 1 diabetes became more intensified and changes in the type of insulin used were reported.Objective and hypotheses: We hypothesised that there are also changes in insulin dosage and in the ratio of prandial to basal insulin. Our aim was to analyse potential trends in paediatric subjects with type 1 diabetes from Austria and Germany between 2000 and 2014.Method: 50 861 subjects...

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height ...

Introduction: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders characterized by hypoglycemia and inappropriate insulin secretion. Prompt identification of CHI and its genetic causes are essential to minimize the risk of permanent neurological damage as well as guide treatment options for these patients. Although, there are 15 known monogenic forms of CHI, there remain 50% of patients without an identified genetic diagnosis, suggesting tha...

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

Background and aims: Existence and diagnostic procedures of neurosecretory dysfunction (NSD) are still a matter of debate. The aim of the study was to analyse prediagnostic data of short-statured children with pathologic and normal spontaneous GH-secretion and to evaluate the effect of GH-therapy in NSD-patients.Methods: Of 90 children aged 3–16 years, in whom 12-hour night profiles for GH-secretion were performed (unicentric), in 49 NSD was diagnos...

Background: The diagnostic use of IGF-1 in children suspected of GHD is based on the assumption that a single determination of this parameter reflects the integrated 24-h GH secretion. IGF-1 levels are low in GHD, but a study found a significantly lower sensitivity in children with organic lesions in the brain.Objective: The aim of this study was to check if there is a statistically significant relation between IGF-1 values in children with GHD with and ...

Background: GH deficiency (GHD) diagnosis includes clinical manifestations, laboratory tests and imaging. There are controversies about the validity of the GH stimulation test. A variety of stimulation tests are used in clinical practice. The biochemical definition of GHD has generally been considered to be a peak stimulated GH concentration <10 ng/ml.Objective: The aim of this study was to check if there is a statistically significant relation betwe...