ESPE Abstracts

Background and objective: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare endocrine disorders caused by genetic or epigenetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH and a complete or partial Albright Hereditary Osteodistrophy (AHO) phenotype. Few data so far exist on LH/FSH, calcitonin and glucose-lipid metabolism involvement, as well as on neurocognitive aspects. The aim of this multicentre study ...

Background: Vitamin D supplementation is widely recommended to infants, but the optimal dose remains unclear. Vitamin D regulates calcium metabolism, and overdosing and high intake may result in hypercalcemia.Objective and hypotheses: We measured serum pH-adjusted ionized calcium (Ca-ion/pH 7.40) concentrations at 6 and 12 months and 25-hydroxyvitamin D (S-25-OHD) at 12 months in order to evaluate the risk of hypercalcemia during vitamin D3 su...

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting in the first 6 months of life. NEUROD1 is a transcriptional factor involved in the development of endocrine pancreas. A few patients with maturity onset diabetes of the young (MODY) due to heterozygous NEUROD1 mutations and only two cases with permanent NDM (PNDM) associated to neurological disorders and cerebellar hypoplasia due to homozygous mutations in the NEUROD1 gene have been reported.<...

Background: Glucokinase (GCK) acts as the glucose sensor of β-islet cells, regulating insulin secretion in response to changing glucose concentrations. Homozygous GCK mutations are a rare cause of permanent neonatal diabetes. Heterozygous mutations lead to GCK MODY, causing mild hyperglycaemia, not usually requiring treatment.Case: The index case was born to consanguineous parents at 36+2 weeks gestation, weighing 1610 g (0.4th centile). Hy...

Background: Neonatal diabetes mellitus (NDM) is a form monogenic diabetes diagnosed under 6 month of age.Objective and hypotheses: To describe the clinical and molecular features of NDM patients in a Turkish cohort.Method: Fifteen patients (13M, 2F) with diabetes onset before 6 months of age were included in the study. Clinical and molecular data were evaluated retrospectively.Results: Mean age at diagnosis w...

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

Background: Endothelial dysfunction is a macrovascular complication of type 1 diabetes. Children and adolescents with type 1 diabetes may suffer of endothelial dysfunction, irrespective of chronological age and disease duration.Objective and hypotheses: After evaluating the prevalence of early endothelial dysfunction, as measured by mean of reactive hyperaemia in adolescents with type 1 diabetes, at baseline and after 1-year follow-up, we started a 6-mon...

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...