ESPE Abstracts

Background: The atypical appearance of the external genitalia in a neonate, defined as the external masculinization score (EMS) less than 11, should incline the clinicians to perform diagnostic procedure ideally managed by a multidisciplinary team in a tertiary centre. Among the patients with disorders of sex development (DSD), the most challenging subgroup in terms of aetiology, is the subgroup with 46, XY karyotype.Objective and hypotheses: To study th...

Background: Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare disease belonging to a heterogeneous group of mitochondrial cytopathies. KSS is caused by deletions and/or duplications in the mitochondrial DNA, which lead to the dysfunction of the respiratory chain and to disorders in tissues with a high energy demands (muscle, nervous system).Case presentation: The girl was admitted to the hospital at the age of 13 years with the suspision of KSS. Progre...

Background: Hypothalamic obesity is a form of obesity syndrome associated with a variety of hypothalamic disorders including intracranial tumors, infections, trauma, vascular problems and hydrocephalus and acquired or congenital functional defects in central energy homeostasis. The pathogenetic mechanisms underlying hypothalamic obesity are multifactorial. Weight gain results from the hypothalamus damage, which leads to excessive apetite and low metabolic rate, multiple pituit...

Background: DICER1 syndrome is caused by germline mutations in the DICER1 gene. It is associated with a wide spectrum of benign and malignant neoplasms, which are accompanied by specific somatic mutations in DICER1. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults; the thyroid ultrasound (US) features of MNG in the setting of DICER1 syndrome have not been widely reported.<...

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

Chronic autoimmune thyroiditis (cAIT) and Graves’ disease (GD) is the most common autoimmune disorders in children, associated with induction of inflammation and autoimmunity process. OPG, a cytokine receptor which mediates suppressive effect on osteoclastogenesis and its soluble ligand RANKL (sRANKL) are regulators of inflammation and may be a link between bone, autoimmune disease, and vasculature.Aim of the study: We hypothesized that cytokines OP...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

Background: Autoimmune thyroid diseases (AITD) are one of the most common organ-specific autoimmune disorders, of which Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are 2 of the most common clinical expressions. HT is characterized by hypothyroidism (hypoT) that results from the destruction of the thyroid by specific T cell-mediated cytotoxicity. In contrast, GD is characterized by hyperthyroidism (hyperT) induced by thyrotropin receptor-specific stimulatory...

Background: Chronic autoimmune thyroiditis (cAIT) and Graves’ disease (GD) are the most common autoimmune disorders in children. Proinflammatory cytokine such as IL-6 has been generally associated with the induction of inflammation and autoimmunity. Osteoprotegerin, a soluble glycoprotein and a member of the tumor necrosis factor receptor (TNFR) family, play an important role in bone homeostasis and in vasculature.Objective and hypotheses: The aim o...