ESPE Abstracts

Background: Multiple autosomal recessive genes have been linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of sphingolipidosis with multisystemic manifestations, including PAI. Sphingosine phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency (PAI), neurological deterioration, immunode...

Background: Next generation sequencing (NGS) has recently been proposed as a primary diagnostic tool in the work-up of children with idiopathic short stature (ISS) and born small for gestational age (SGA). The main limitation of a multi-gene approach is represented by the difficulty in the interpretation of VUS clinical significance.Aim: To identify and characterize genetic variants in a cohort of children born SGA and I...

Background: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by rickets, muscle weakness, bone pain, nephrocalcinosis or nephrolithiasis. It is caused by mutation in SLC34A3 gene, encoding for renal sodium-phosphate cotransporter IIc (NaPi-IIc).Case: A patient aged 10 years came for evaluation for bone pain at lower limbs. He was born at full term from no...

Background: Managing glucose control in young children with Type 1 Diabetes (T1D) is challenging due to variable insulin needs, sensitivity, and unpredictable eating and activity behaviours. Despite their effectiveness, the majority of the Advanced Hybrid Closed Loop (AHCL) systems is not approved for children under six in many countries of Europe.Aim: To assess and compare the effectiveness of Multiple Daily Injection (...

Introduction: Mandibular hypoplasia, Deafness, Progeroid features, Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutation in POLD1 gene, which encodes the catalytic subunit of the DNA polymerase delta (Polδ) enzyme.Case: a 6.5-year-old boy presented to the outpatient clinic due to severe thinness (BMI -4.86 SDS, WHO 2006 growth charts). Examination of his medical history rev...

Background: Congenital Adrenal Hyperplasia (CAH) is a rare autosomal recessive genetic disorder caused by the absence or severely impaired activity of enzymes involved in adrenal steroid biosynthesis, with over 90% of cases resulting from 21-hydroxylase deficiency. The initial presentation of CAH can range from a dramatic adrenal crisis with salt loss to more subtle signs such as female genital ambiguity or male scrotal hyperpigmentation. Timely identification...

Background: Pseudohypoparathyroidism (PHP) refers to a group of rare diseases characterized by post-receptor resistance to parathyroid hormone and other protein hormones (TSH, GHRH, LH, FSH), due to defects in the Gsα protein. PHP can be associated with the phenotype known as Albright’s hereditary osteodystrophy (AHO), which includes round face, short stature, brachydactyly, ectopic ossifications and mental retardation. Diagnosis often stem out fro...

Background: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare cause of sellar mass in paediatric patients. Longstanding and untreated primary hypothyroidism leads to hyperplasia of thyrotrophs and lactotrophs as well as transdifferentiation of somatotrophs to thyrotrophs. Hashimoto's thyroiditis is the most common cause of hypothyroidism in PHPH. Clinical findings of PHPH include growth retardation, obesity and symptoms of hypothy...

Background: A close association has been reported between obesity and renal damage in adults, but evidence in childhood is still limited.Methods: We retrospectively studied 396 children and adolescents with obesity. Clinical, biochemical, and instrumental evaluations were performed. Patients were stratified according to the metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) phenotypes. Kidney d...

Background: Extra Uterine Growth Restriction (EUGR) represents a serious comorbidity in infants born very low birth weight (VLBW). In fact, failure in postnatal growth and malnutrition at vulnerable ages can interfere with growth recovery and neurodevelopment at older ages.Hypothesis: Aim of the study was to assess whether and how the postnatal early growth patterns of VLBW may affect later growth, spontaneous motility a...