ESPE Abstracts

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...

Background: Puberty is associated with a physiological decline in insulin sensitivity. Overweight and obesity are common among girls with Central Precocious Puberty (CPP). CPP and early menarche have been considered as risk factors for obesity and cardiovascular diseases during adulthood. Besides, concern has been raised by the potential impact of GnRH analogues (GnRH-a) treatment on body weight and metabolic profile.Objective and hypotheses: To evaluate...

Background: Increased frequency of VDD/I has been found in warmer countries over the last years.Objective and hypotheses: To evaluate the response to vitamin D treatment in VDD/I among children and adolescents with type 1 diabetes.Method: Total 25OHvitamin D levels (VDL) were measured in 76 consecutive children and adolescents with type 1 diabetes (36 males, mean age (S.D.) 13.6 (5.09) years, median disease duration ...

Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...

Objective: The first line of treatment for Cushing`s disease (CD) is transsphenoidal surgery (TSS), whose effectiveness range is from 70 to 90%. If surgical treatment is unsuccessful or recurrence appears, radiation treatment (RT) is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher.Aim: Analysis of recurrence rates of CD and side ...

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

Mutations in the GH1 gene cause isolated growth hormone deficiency (IGHD) by affecting production, secretion, and stability of growth hormone as well as its binding to GHR. A smaller isoform of GH1 is inactive and is linked to IGHD. While studying the impact of small GH isoform, we noticed that cells with the short 17.5 kD version of GH looked different from the control cells. We found that the production of short GH isoform distorts the cell morphology, contributing to detrim...

Diseases of food restriction, such as anorexia and bulimia nervosa, are psychiatric conditions with the highest mortality. It is not known how these disorders emerge and what determine mortality. Individuals with these disorders frequently engage in compulsive exercise. States of food restriction are associated with elevated activity of hypothalamic neurons that produce AgRP, which cells are crucial for feeding and can promote stereotypic behaviors.Here,...

Introduction: Graves'disease (GD) is a polygenic and multifactorial disease.The innate immune system is a complex network of structured cells and proteins, including the Toll-like receptors (TLRs), which are also expressed on the cells of the adaptive immune system.The aim was to assess the relationship between the expression of TLR-2 on the surface of T CD4+ and CD8+ lymphocytes in pat...

Background: Growth hormone (rGH) treatment is an approved growth promoting therapy in children born small for gestational age (SGA) without spontaneous catch-up. SGA infants may be born either full-term or premature. Prematurity is an additional risk factor for adult short stature. Premature children born SGA may potentially be affected by combination of the effects of prematurity and SGA status. There are only few reports on premature SGA children treated wit...