ESPE Abstracts

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...

Background: Chronic autoimmune thyroiditis (cAIT) leads to hypothyroidism due to T cell-mediated cytotoxicity in most cases. By contrast, Graves’ disease (GD) with thyrotropin receptor stimulatory autoantibodies cause hyperthyroidism. OPG a cytokine receptor which mediates suppressive effect on osteoclastogenesis is a key regulator of inflammation and may be a link between bone, autoimmune disease and vasculature.Objective and hypotheses: Cytokines ...

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of...

Background: Central diabetes insipidus (CDI) is a rare disorder in the pediatric population. CDI may be the first symptom of a brain tumor, metastatic lesions, or granulomas. The close follow-up of patients with CDI may early detect pathologic processes, especially intracranial tumors.Methods: We present four pediatric patients diagnosed with CDI of different etiology.Pat...

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The dominant form of HR is X-linked HR (XLHR) caused by mutation in the phosphate-regulating endopeptidase gene PHEX. There is also autosomal dominant form of HR caused by mutation in FGF23 gene or rare autosomal recessive form caused by DMP1 mutation. The phenotype can vary from very delicate to severe bone disease.<p class="abstex...

Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune–Albright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradio...

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...