ESPE Abstracts

Background: Almost all cases of hyperthyroidism in children result from Graves’ disease (GD). Recent studies have confirmed a significant role of T cells in the development of autoimmune diseases. However, the interactions between NKT-like cells and NK cells in GD are still poorly understood.Objective and hypotheses: The aim of the study was to assess the frequencies of peripheral blood T, NK and NKT-like cells in children with GD.<p class="abst...

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...

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

Objective: The first line of treatment for Cushing&grave;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 ...

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

Background: RARβ cooperates with Nur77 to in-vitro regulate HSD3B2 transcription. NUR77 expression parallels HSD3B2 expression with a much lower level in androgen-producing adrenocortical tissues (childhood virilizing adrenocortical tumours (VAT), fetal zone (FeZ) and zona reticularis, ZR). RARβ is down-regulated in starved, hyperandrogenic H295R cells. However, the mechanisms regulating this expression pattern and the relevance of RARβ to huma...

Background: Preterm newborns due to their immaturity, a higher incidence of mortality and increased susceptibility to iodine, are at risk of decreased thyroid function. Low levels of thyroid hormones during a critical period for the development of the central nervous system may negatively affect their psychomotor development. Screening for congenital hypothyroidism with capillary TSH is invalid for preterm babies and would require an specific thyroid function control.<p cl...

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...