ESPE Abstracts

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

Background: The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). In women with classic CAH, the fertility rate is lower than in the general female population, and an increased rate of miscarriages has been reported. There are no data on the incidence rate of miscarriages in families with an offspring that have classic CAH.Methods: The families came from different parts of Germany and attended the annual meeting of th...

Background: Differences in hypothalamus–pituitary–adrenal (HPA-)axis functioning have been proposed to underlie gender-specific cardiovascular and neurocognitive disease susceptibility.Objective and hypotheses: We conducted a systematic review and meta-analysis to test the hypothesis that gender-specific differences in HPA-axis activity are already present in childhood.Method: We searched two electronic databases (PubMed ...

Background: Bioavailability of peptide/protein – drugs is extremely low after oral administration due to their instability in the gastrointestinal tract or poor absorption.Objective and hypotheses: Oral delivery of growth hormone and somatostatin by adding extreme stable lipids.Method: A liposomal system based on a combination of standard lipids and membrane spanning tetraether lipids, which are extremely stable biomolecules. ...

Introduction: Limited research has focused on the potential connection between thyroid function and attention-deficit/hyperactivity disorder (ADHD), particularly beyond prenatal effects. The few studies addressing children and adolescents have important methodological shortcomings, mainly when seeking to establish causality. To clarify this relationship, a combined epidemiological and genetic approach was adopted to overcome the methodological limitations of e...

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...

Introduction: Until recently, bariatric surgery (BS) has been the only option for clinically meaningful weight reduction for adolescents and youth with extreme obesity. Low participation rate in follow-up examinations and low supplement intake after BS in adolescents has been described in literature (PMID: 24048144, 25078533). We developed a structured pre- and post-bariatric surgery program in order to improve follow-up rate and supplement intake in adolescen...

Purpose: States of starvation are characterized by reduced physical activity and social withdrawal. The reduction of leptin levels during starvation has been proposed to be a mediator of these changes, therefore we aimed to ascertain if leptin substitution in patients with congenital leptin deficiency (CLD) can increase physical activity and improve mood.Methods: Seven CLD patients were filmed prior to and after short te...