ESPE Abstracts

Background: Current literature suggests an important role of both endocrine disruptors and genetic factors in the occurrence of cryptorchidism.Objective and hypotheses: The aim of the study is to investigate the impact of variants in INSL3 and HOXD13 genes in the pathogenesis of isolated cryptorchidism in Greece. 43 boys with isolated cryptorchidism and 50 healthy non-cryptorchidic boys (control group) were enrolled.<p class="abstex...

Background: Endocrine impairments, such as diabetes insipidus (DI), growth hormone deficiency (GHD) and, to a lesser degree, thyroid or cortisol deficiencies, have been reported after traumatic brain injury (TBI) in adults and much less in children both at the acute post-traumatic phase and after a lag period of time. However, no prospective data exist on the endocrine and acute phase protein response to TBI in childhood.Aim/objective: To unravel possibl...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

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...

Introduction: Paragangliomas are rare neuroendocrine neoplasms, that derive from the chromaffin cells of the neural crest. They originate from the extra-adrenal paraganglia and are divided into sympathetic and parasympathetic. They are classified into three different molecular clusters, depending on the underlying gene mutations, in any of at least 20 identified genes: cluster I Pseudo-hypoxia, cluster II Kinase signaling, cluster III Wnt signaling. Half of th...

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: /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...