ESPE Abstracts

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

Background: Romania has a 3.3% Rromanes population according to the latest census, but no specific growth charts for this ethnic minority. Current national protocol recommends using the Swiss growth charts developed in 1989. Specific growth charts exist for ethnic subgroups like Turks in Germany and the Netherlands.Objective and hypotheses: A comparison between a Rromanes and a Romanian group of children regarding weight and height disturbances’ pre...

Background: The rate of direct genotype–phenotype correlation in 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) is <50%. We report two cases of genotype/phenotype non-concordance, which has been explained by gene sequencing.Family 1: in a non-consanguineous family of Irish, German, and Italian ethnicity there are five children. Two of the boys have hormonal evidence of CAH owing to 21-hydroxylase deficiency. The third boy has no ...

Aim: To examine offspring of patients with simple obesity. To ascertain, if there are some disturbances in the carbohydrate or lipid metabolism or unknown type 2 diabetes in these subjects.Method and subjects: Examined were 132 families, 108 families with obesity, and 24 families without obesity, the control group. 14 additional were excluded because of ascertained at the time of examination unknown type 2 diabetes in the parents. In all of the offspring...

Background: Metabolic syndrome (MetSyn) is defined as a group of disorders including diabetes mellitus, central obesity, dyslipidaemia, and hypertension.Aim: To investigate the role of lifestyle habits in correlation with MetSyn in children.Methods: In our research, 480 students, 6–12 years old, were participated living in Sparta–Greece. During 2011–2012, a specially designed questionnaire was used and anthropometric...

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

Background: Diencephalic syndrome (DS), diencephalic cachexia or Russell syndrome, is a rare, rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/chiasmatic tumors. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake and growth rate, hyperalertness, hyperkinesis, and euphoria. Treatment is related to treatment of the hypothalamic lesion. The role of cytok...

Background: The normal recovery of the hypothalamic–pituitary–gonadal axis after discontinuation of therapy with GNRH analogue for precocious puberty has been proven and documented in the last decades. There has been no report in the literature of patients in which a history of GNRH treatment of precocious puberty is correlated with premature ovarian failure.Objective and hypotheses: The aim of the authors is to evaluate the possibility of a co...

Background: The nutritional and hormonal state in utero may be a link between maternal obesity and obesity in the offspring. The gene expression in placentae in pregnancies complicated by diabetes is reduced for leptin, but increased for ghrelin. It is not known whether these genes’ expressions in placentae are altered in maternal obesity.Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene ...

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in the pediatric population. T helper 17 (Th17) IL-17A+CD3+CD4+ cells represent a novel subset of T helper cells that play an active role in inflammatory and autoimmune diseases. Although methimazole (MMI) lowers the levels of thyroid autoantibodies, little is still known about its influence on cell-mediated immune response. The role of Th17 cells in GD pathogenesis remains uncertain and the impa...