ESPE Abstracts

Background: Silver-Russell syndrome (SRS) is characterized by small for gestational age (SGA) birth, severe short stature and variable dysmorphic features. Children born SGA are at increased risk to develop adult-onset disease at a relatively young age. Growth hormone (GH)-treatment is a registered growth-promoting therapy for short children born SGA, including SRS. Data on metabolic health and long-term safety of GH-treatment in SRS are limited.Objectiv...

Background: A small subgroup of children with isolated growth hormone deficiency (IGHD) develop central hypothyroidism (CH) during GH treatment. Prognostic parameters are still unclear.Objective and hypothesis: Long-term evaluation of children with initial diagnosis of IGHD to identify those with an unmasking CH under GH treatment. IGHD was diagnosed in children with short stature, low height velocity, retarded bone age,...

Background: Raising a child diagnosed with type 1 diabetes can have a profound impact on parents. Having to combine the demands of the disease and treatment with every day parenting tasks can be overwhelming. Easy accessible communication with healthcare professionals was found to support parents in adequately coping with the disease and the disease self-management in everyday life, as well as peer support and tailored disease information. The Internet is regarded to be a suit...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

Introduction: Type 1 diabetes (T1D) is one of the common chronic diseases of childhood. T1D management is affected both by physiological and behavioral factors. Some patients and their parents choose to conceal the disease from others. Concealment of disease status is not unique for T1D, and has been shown to adversely affect clinical outcomes, social support and well-being of patients with other chronic conditions. There is limited data on the effects of concealment of T1D in...

Background: While non-autoimmune T1D is rare in late childhood, few monogenic causes have yet been identified.Objective: 1) to identify the genetic basis of the yet unreported disease phenotype associating late childhood antibody-negative T1D, short stature, optic atrophy (OA), Pelger-Huët anomaly (PHA) of leukocytes and recurrent liver cytolysis: the “DISOPHAL” syndrome; 2) to attract comparable cases for further genetic investigation.</p...

Background: IGF1 is mainly sequestered in a 150 kDa ternary complex with IGFBP3 and the acid-labile subunit (ALS). Dissociation of IGF1 from the ternary complex is in part regulated by proteolysis of IGFBP3, which reduces its affinity for IGF1. Short children born SGA have lower IGF1 and IGFBP3 levels compared to healthy peers.Objective and hypotheses: To determine complex formation in healthy normal statured children, and assess variables influencing co...

Background: Children with Prader–Willi syndrome (PWS) attain high serum immunoreactive IGF1 levels during standard dose GH treatment, which leads to concern, but lowering the dose, deteriorates their body composition.Objective and hypotheses: To evaluate serum IGF1, IGFBP3 and acid-labile subunit (ALS) levels, complex formation and IGF-bioactivity in GH-treated PWS children. We hypothesized that GH-treated children with PWS have a normal IGF-bioacti...

Background: The main cause of secondary adrenal insufficiency (SAI) in children is prolonged treatment with exogenous corticosteroids. plasma cortisol (PC) levels after administration of ACTH is the most used indicator of adrenal function in clinical practice. However, salivary cortisol (SC) levels is emerging as an alternative technique in the diagnosis of adrenal pathology, especially useful in the paediatric population because it is a simple noninvasive test.<p class="a...