ESPE Abstracts

Introduction: The thyrotropin receptor (TSHR) has a key role in the thyroid gland. It is involved in folliculogenesis, differentiation, organogenesis, and thyroid hormone synthesis and production. Its genetic defects can cause poor differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis, TD). Therefore, its phenotype spectrum is wide, ranging from severe congenital hypothyroidism (CH) to mild hyperthyrotropinemia. Some hetero...

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

Background: The DNA-binding High Mobility Group Box-1 (HMGB1) is an intracellular gene regulator that can be secreted also in response to inflammatory mediators, including interleukins, binding subsequently to both RAGE and Toll-like receptors forming a self-reinforcing inflammatory circle. Cystic fibrosis (CF) is a condition characterized by chronic inflammation. Elevated serum HMGB1 concentrations were described in serum of obese children and to be associated with the metabo...

(DPG)-plus syndrome is a rare craniofacial anomaly. It usually occurs in combination with other craniofacial defects. The etiology of this condition remains unknown. Survivors to late childhood have either preserved pituitary function or central precious puberty. Idiopathic infantile hypercalcemia (IHH) is another rare condition that predominantly affects infants. The co-occurrence of (DPG)-plus syndrome and IIH has not been reported previously. We will also present a case rep...

Introduction: 17q12 deletion syndrome is associated with an enlarging phenotype, the most frequent clinical findings being renal and genitourinary malformations, diabetes mellitus (β-cell developmental defect) and exocrine pancreas deficiency, variable cognitive impairment with dysmorphic features.Diabetes, known as MODY 5 (maturity-onset diabetes of the young), is an autosomal dominant monogenic type and the most commonly identi...

Introduction: Legg-Calvé-Perthes disease is an idiopathic osteonecrosis of the femoral head with uncoupling of bone resorption and formation, presenting as unilateral involvement in most children. Symmetric involvement suggests other conditions: skeletal dysplasia, osteonecrotic entities including hypothyroidism, Gaucher's disease, glycogen storage defects, sickle cell anemia.Case presentation: We present a case...

Background: Pseudohypoaldosteronism (PHA) is a rare entity inducing, in case of late or missed diagnosis, life-threatening clinical and biochemical complications.Objective and hypotheses: To report a case of 4-week-old boy with failure to thrive, dehydration, hyponatremia, hyperkalemia, metabolic acidosis. The first diagnosis was congenital adrenal hyperplasia, but in the evolution, the right diagnosis of PHA was retained.Method: T...

Background: Noonan syndrome (NS) is an autosomal-dominant inherited condition defined clinically by a short stature, specific phenotype, congenital heart disease, bleeding and hematologic abnormalities (particularly leukaemia). There is also a genetic heterogeneity, with all mutations involved in the RAS/mitogen-activated protein (MAP) kinase pathway and with PTPN11 gene mutations counting for almost 50% of patients.Objective and hypotheses: To describe ...