ESPE Abstracts

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...

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

Background and aim: Per- and polyfluoroalkyl substances (PFAS) are a group of synthetic chemicals found in everyday consumer products. These chemicals are considered endocrine disruptive. However, their effect on pubertal onset and development is still unclear. The aim of the current study was therefore to explore the relationship between PFAS exposure and pubertal development using novel objective pubertal phenotyping, e.g., ultrasound-determined testicular v...

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...