ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycemia in childhood, and diagnosis and treatment of CHI is one of the most difficult aspects of modern endocrinology and diabetology. In half of infants suffering from congenital hyperinsulinism, which may require resection of pancreatic, potentially curable focal form can be found. Recently introduced diagnostic imaging using 18F-DOPA-PET allows for differentiation as a diffuse and focal...

Background: IGF1 measurements are used to diagnose and monitoring GH related disorders. GH dose is titrated against IGF1 concentrations which should be kept within the age-and sex-related normal range. However, IGF1 results vary widely depending on the immunoassay used. International guidelines advise to report IGF1 results as S.D. scores from an assay-specific age-related reference population.Objective and hypotheses: Our objective was to...

Introduction: PseudoCushing is an unusual pathology. Among adults several cases have been published, however, in paediatrics it is unusual.Objective: Description of a PseudoCushing case from a patient admitted in a hospital and results from a study to discard secondary hypercortisolism due to stress.Patients and methods: 13 years old patient that it is admitted in hospital due to v...

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...

Introduction: Precocious puberty (PP) is defined as the appearance of thelarche before the age of 8 years, in girls. The gold standard for the diagnosis is represented by the increase of LH level after stimulation with native GnRH, but a feasible alternative involves the administration of GnRH analogues. This test is poorly standardised and currently literature lacks of defined values to confirm the activation of the hypothalamic-gonadal axis, since they depen...

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

Background: Gender incongruence (GI) is a topic of interest with major impacts on both the individual and society. In recent years, the small group of gender non-conforming children with an early GI history that persists through adolescence has been accompanied by a substantial rise in the proportion of adolescents reporting their gender doubts. The onset of gender dysphoria in this group is rapid. In the Czech Republic, multidisciplinary teams strive for high...