ESPE Abstracts

Background: The increased prevalence of anti-thyroid peroxidase antibodies (anti-TPO) and autoimmune thyroiditis in children with type 1 diabetes (T1D) has been previously well described. However, the necessity for screening for anti-TPO in children who have not been diagnosed with T1D yet, but have a HLA-conferred susceptibility to T1D, has not been reported. A 3% prevalence of anti-TPO in healthy children has been shown in studies using a cut-off value of >100 kU/L for c...

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth, and can lead to significant distress and gender dysphoria (GD). In various studies it has been associated with a predisposition to developing pathological eating behaviours, which in turn negatively influence the individual’s metabolic health. In our study we examine selected markers of metabolic condition and assess sur...

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth and can lead to significant distress and gender dysphoria (GD). Some studies have shown a higher prevalence of hyperandrogenism (HA) in transboys/transmen than among the cisgender female population and considered its meaning in the context the of gender identity development. Therefore, further studies confirming this observatio...

Objective: To evaluate the response to recombinant human GH (rhGH) treatment in NS children with short stature and previously identified mutations in the RAS/MAPK pathway genes.Methods: 23 patients with NS (17 males; 19 PTPN11, 3 RAF1 e 1 SHOC2) were daily treated with rhGH (mean rhGH dose of 47 μg/kg per day). The main outcome measures were 1st year growth velocity, change in height SDS (Noonan syndrome specifi...

Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.Materials and Methods: The study population included 111 individuals with a molecul...

Background: McCune–Albright syndrome (MAS) is a rare disease with a prevalence of <1 to 100 000. It is caused by early post-zygotic mutations in the GNAS1 gene. Classically it presents with precocious puberty, fibrous dysplasia and café-au-lait spots. Other endocrinopathies may be hyperthyroidism, GH excess, Cushing syndrome, and renal phosphate wasting.Case report: A 17-year-old girl diagnosed with MAS at the age of 11 on basis of all thre...

A PROP1 homozygous mutation was found in an 8 years old boy who was referred for fatigue, general slowness, dry skin, normal weight and slow growth. His T4 and TSH were low, while tests of pituitary reserve were normal as well as the concentrations of ACTH and cortisol. FSH/LH/T/E were in the pre-pubertal range. TRH test resulted in no increased TSH and T4, confirming the pituitary origin of the defect. MRI of the pituitary hypothalamic region revealed an enlargement of the an...

Background: Thyroid hormones are necessary for normal child development. Hypothyroidism, associated with insufficient amounts of free triiodothyronine and thyroxine, may not only cause poor growth rate, but also results in impaired central nervous system development. In Poland, newborn screening for congenital primary hypothyroidism, the incidence of which is reported to be 1:2500- 1:4000 births, has been performed for many years. Secondary hypothyroidism, cau...

Introduction: The genomic disorders caused by rearrangements in region 5q35, including the NSD1 (nuclear receptor SET domain containing protein-1) gene have various phenotypes depending on presence of deletions, duplications or inversions. Patients carrying microduplication have microcephaly, short stature, and mild to moderate intellectual delay or learning disability.Patients and methods: A six-year-old boy wa...

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...