ESPE Abstracts

Background: Hereditary syndromic endocrine tumours are associated with significant morbidity in the paediatric population. Advances in molecular genetics enable early cascade genetic testing with early initiation of tumour screening. Controversy exists around the start age and burdens arising from screening-related harms.Objective: To describe the efficiency of the screening program for paediatric patients with genetic r...

Introduction: MIRAGE syndrome (Myelodysplasia, Infections, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy, OMIM# 617053), is a congenital disorder caused by heterozygous gain of function mutations in the growth repressor gene SAMD9, inherited autosomal dominantly, although de novo variants are often reported. The syndrome was first described in 2016 and to date various cases have been reported, presenting a wide sp...

Background: Achondroplasia (ACH) is an autosomal dominant condition, resulting from pathogenic missense FGFR3 (fibroblast-growth-factor receptor-3) variants. Foramen magnum stenosis (FMS) is a severe complication, with infants and younger children being at higher risk. FMS may be asymptomatic or cause cervical-medullary compression (CMC), presenting with hydrocephalus, hypotonia or hypertonia, central sleep apnea and sudden death. The scope of the stu...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a cause of primary adrenocortical insufficiency. It is associated with accumulation of very long chain fatty acids (VLCFA), due to peroxisome dysfunction. X-ALD is caused by pathogenic variants of the ABCD1, which encodes an ATP-binding cassette transport protein, and is inherited in X-linked recessive mode. There is no known genotype-phenotype correlation, and the degree of VLCFA elevation does n...

Introduction: Gestational diabetes mellitus (GDM) is often accompanied by gut dysbiosis, which typically includes a decrease in short chain fatty acid (SCFA)-producing genera. Maternal SCFAs have been found to influence placental immunometabolism and fetal development. The aims of this study were: a) to investigate the associations between maternal and fetal (cord blood-umbilical artery) SCFA levels and offspring anthropometry during the first year of life in ...

Introduction: /Purpose: Graves' disease is the most common cause of hyperthyroidism in children and adolescents. It is an autoimmune disorder characterized by stimulating autoantibodies, leading to increased thyroid hormone release and thyrotoxicosis. Early initiation and long-term treatment, remission, and definitive treatment with thyroidectomy or radioactive iodine present a challenge. This study aims to record the data of patients with Graves' disease foll...

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...