ESPE Abstracts

Background: Onset of diabetes in the neonatal period with additional malformations e.g. congenital heart defects should always be suspicious for an underlying genetic disorder. For example, GATA6-mutations were identified in children with congenital heart defects and neonatal diabetes. The latter may be due to pancreas agenesis. Herein we present a novel GATA6-mutation in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early onset scol...

Background: Secretion of catecholamines by adipose tissue M2 macrophages was recently proposed as a molecular mechanism leading to activation of brown adipose tissue and heat generation in mice. However, published data are conflicting and it is not clear whether this pathway might play a role in humans. To shed light on this, we studied macrophage polarization in human white and brown adipose tissue and related it to thermogenic gene expression.Methods: ...

Background: The disturbance of the GH-IGF-axis in type 1 diabetes (T1DM) with low circulating IGF-I, GH hypersecretion, and hyperinsulinemia, which may be associated with high tissue IGF-I, have implications on long-term vascular complications.Objective and hypotheses: To establish disease, sex and age related serum IGF-I reference values for children with T1DM and test the hypothesis that IGF-I SDS is lower in T1DM than in healthy controls and negativel...

Background: In children, congenital hyperinsulinism is the most common cause for endogenous hyperinsulinaemic hypoglycaemia (HH). Beyond infancy other diagnoses may be considered, such as insulinoma, an insulin-secreting neuroendocrine tumour (NET) arising mostly from the pancreas. The latter is a rare cause of HH in children. The estimated incidence of insulinoma is 1:250’000 person-years of all age groups with a median age at diagnosis of 47 years. Herein, we report an ...

Background: Adolescents with gender dysphoria (GD) are treated with gonadotropin-releasing hormone analogues (GnRHa) to prevent the development of characteristics of the undesired sex. Subsequently, sex steroids of the desired sex, cross sex hormones (CSH) are added. GnRHa treatment is generally considered to be safe in the treatment of precocious puberty in children. However, we observed that some adolescents with GD developed hypertension during GnRHa monotherapy (Klink D <e...

Background: During treatment of adrenal insufficiency (AI) with hydrocortisone (HC), cortisol concentrations are supra-physiological following doses, and low before doses. We speculated that this cortisol profile may result in periods of hyperglycaemia and hypoglycaemia. We describe glucose profiles in the first 18 children recruited to a study of metabolic and cardiovascular profiles in AI. Methods: Children with primar...

Background: Increased risk of cardiovascular disease and increased subclinical atherosclerosis have been reported in children with primary adrenal insufficiency (AI), including those with congenital adrenal hyperplasia (CAH), when compared to healthy children. Carotid intima media thickness (CIMT) can be used as an early marker of cardiovascular risk. The severity of adverse metabolic profile has been related to the total hydrocortisone dose and duration of tr...

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...