ESPE Abstracts

Neonatal Diabetes mellitus (NDM) is a rare genetic disease. In this report, we presented a case of NDM due to mutation in GCK gene. A male baby born to a non-consanguineous parent at 42 weeks of gestation with a birth weight of 3.2 kg. The mother was diagnosed with gestational diabetes; no special treatment was given. The first episode of hyperglycemia was registered at the age of 13 days at hospitalization due to bronchitis /blood glucose -6.2⁓7.9 mmol/l. Due to mild h...

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

The objective of the study was to evaluate the Pediatric Quality of Life (PedsQL) of children from 8-12 y/o with T1DM, to compare PedsQL perceived by their parents, to understand gender and other factors influence on PedsQL and disease management.We conducted a prospective non-randomized cross-sectional study. Children with T1DM were identified from pediatric endocrinology department registries. The onset of diabetes had to be more than 6 months. All con...

Prediction of growth hormone (GH) therapy effectiveness in children with short stature is an important issue for optimizing its course. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset, pre-treatment change of height SDS (HSDS V0) and pre-treatment IGF-I and IGFBP-3 secretion but not the results of GH stimulation tests; the...

Prediction of poor response to growth hormone (GH) therapy in children with short stature is an important issue for personalized approach to treatment. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset (H0SDS) and pre-treatment IGF-I and IGFBP-3 concentrations but not the results of GH stimulation tests; pre-treatment growth...

Background: The diagnosis of severe primary IGF-I deficiency (IGFD) in children with normal growth hormone (GH) peak in stimulation tests (stimGH) should be confirmed by IGF-I increase <15.0 ng/ml during generation test (IGF-GT), however the significance of IGF-GT has been questioned by some researchers.Objective and hypotheses: Evaluation of the significance of IGF-GT in children with normal stim GH and IGFD, with respect to efficacy of growth-promo...

Background: GH deficiency (GHD) is currently defined as secondary IGF1 deficiency (IGFD). In the patients with normal GH secretion and IGFD, significant increase of IGF1 during generation test excludes primary IGFD, however is not an approved indication for GH therapy.Objective and hypotheses: The aim of the study was to assess GH therapy effectiveness in children with IGFD, responding to short-term GH administration despite normal GH peak after falling ...

Background: GH deficiency (GHD) is routinely diagnosed on the basis of decreased GH peak in two stimulating tests (GHST). In Poland, few years ago, an assessment of nocturnal GH secretion after falling asleep (noctGH) has been introduced as a screening test in diagnosing GHD.Objective and hypotheses: The aim of the study was to assess GH therapy effectiveness in children with decreased GHST with respect to noctGH.Method: Retrospect...