ESPE Abstracts

Background: Isolated premature thelarche (IPT) is characterised by precocious breast development without any other signs of puberty.Objective and hypotheses: The aim of the study was to analyze hormonal activity of the pituitary – ovarian axis in girls with IPT.Method: 102 girls with IPT (Tanner stage 2–3), mean age 2±1.4 years (0.04–7 years), mean weight 12.3±4.3 kg, mean height 85.0±13.6 cm (45±...

Introduction: Pilocytic astrocytoma is the most common type of CNS astrocytoma in children. Clinical manifestations depend on its location and size and initial symptoms are usually related to neurological deficits or signs and symptoms of intracranial hypertension. Involvement of the hypothalamic area, pituitary infundibulum and leptomeningeal spread are exceptional. The case of a patient with central precocious puberty in whom the initial neuroimaging study oriented the diagn...

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...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

Background: In order to prevent virilization in CAH female fetuses, physicians have during the last thirty years used the synthetic glucocorticoid dexamethasone (DEX) as a therapeutic approach administered during early pregnancy. Due to the fact that treatment has to be started before the genotype of the fetus is known, seven out of eight treated fetuses will be subjected to high doses of DEX during early embryogenesis without benefit. Therefore, negative side effects cannot b...

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years. A paraneoplastic/autoimmune etiology has been suggested because of the association with neural crest tumours.Objective and hypotheses: Aim of this study was to describe the phenotype of ROHHADNET patients, and to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not...

Background: Ovarian sex differentiation network involves a panoply of interacting factors. Yet, no single sex-determining factor has been identified to be an equivalent of SRY or SOX9 in the testis. Recently, data suggested CBX2 as a pioneer regulator promoting testis development. In addition to its implication in ovary pathway differentiation which remains unclear.Objective and hypotheses: To deepen our understanding of the regulatory network that under...

Background: Brown adipose tissue metabolism is of remarkable pathophysiological interest, because it could be a target for therapies for obesity and metabolic syndrome. Irisin (Ir), recently identified adipomyokine is essential in a white-to-brown fatty tissue transdifferentiation, and mediates some of the positive influences on metabolic disorders through increase of energy expenditure. The exact regulation of Ir secretion and action is unknown but positive associations of ci...