ESPE Abstracts

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...

Background: Central precocious puberty (CPP) is a common condition in girls and has been associated with deterioration of final height (FH). Height prognosis (HP) is critical for the decision of treatment in CPP. There are several methods for predicting FH in CPP but none is completely reliable. Most methods consider bone age (BA), which is very imprecise, but there is no consensus on which method is the best to estimate FH.Objective: To compare the accu...

Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was...

Background: Myo-inositol(MI)is a polyol involved in intracellular signaling pathways of insulin and MI has been used orally for therapeutic purposes in girls and adult women with polycystic ovary syndrome(PCOS)with variable success. As yet, serum MI levels have not been assessed in girls with PCOS.Aim: Our primary goal was to compare serum MI levels in girls with PCOS with those in healthy peers. Secondary goal was to in...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Few treatments for type 2 diabetes (T2D) and obesity achieve meaningful long-term weight-loss and are often accompanied by nausea and vomiting. Thus, there is a critical need for a new generation of obesity medications that provide glycemic control with enhanced hypophagic response without nausea. Our group has developed and tested two new monomeric chimeric peptides against a novel target for obesity treatment concomitant with T2D in the form of dual agonism of the anorectic ...

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: Patients with autoimmune Addison’s disease (AAD) lack production of glucocorticoids (GCs), mineralocorticoids (MCs) and androgens from the adrenal gland, due to autoimmune destruction of its cortex. Patients require replacement of GCs and MCs for the rest of their lives. In some cases, testosterone is supplemented in females. Brain function is sensitive to fluctuations in cortisol and may therefore be affected in AAD due to long-term disturba...