ESPE Abstracts

Adamantinomatous craniopharyngiomas (ACPs) are clinically challenging tumours, the majority of which have activating mutations in CTNNB1. They are histologically complex, showing solid tumor component comprised of different morphological cell types (e.g. β-catenin accumulating cluster cells and palisading epithelium), surrounded by a florid glial reaction with immune cells, but also a cystic component. ACP cysts often exert substantial mass effect on critical str...

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

Objectives: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized with isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP), a transmembrane protein, involves in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. Herein, we ev...

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

Background and aims: Little is known about the incidence and clinical consequences of hyperthyroidism in paediatric patients with type 1 diabetes mellitus (T1DM).Methods: We analysed the DPV database to investigate the rate of hyperthyroidism in paediatric T1DM patients, its impact on metabolic control, and potential associations with other autoimmune diseases.Results: Hyperthyroidism was found in 276/60,456 patients (0.46%) and wa...

Background: Poor growth and inadequate nutrient intake by food allergic children have been suggested, particularly for children avoiding milk.Objective and hypotheses: To investigate the impact of a dairy-free diet on the final stature of IgE-mediated Cow Milk Allergy (IgE-CMA) young adults.Method: Anthropometric data was measured in 60 IgE-CMA patients (20.4±3.4 years old, 26 males (43%)) and 36 volunteers without IgE-CMA (co...