hrp0098p1-113 | Adrenals and HPA Axis 2 | ESPE2024

A novel genetic variant in sphingosine-1-phosphate lyase causing primary adrenal insufficiency and inborn error of immunity

Elisa Amodeo Maria , Profeti Elisa , Rivalta Beatrice , Deodati Annalisa , Agolini Emanuele , Finocchi Andrea , Cotugno Nicola , Palma Paolo , Cianfarani Stefano

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...

hrp0098p1-160 | GH and IGFs 2 | ESPE2024

Systematic Approach To Define Clinically Significant Variants of Unknown Significance (VUS) in Children With Short Stature

Deodati Annalisa , Mirra Giulia , Pampanini Valentina , Fausti Francesca , Ruta Rosario , Mucciolo Mafalda , Ubertini Graziamaria , Novelli Antonio , Cianfarani Stefano

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...

hrp0098p2-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Hereditary hypophosphatemic rickets with hypercalciuria: a rare disorder not to be forgotten about

Pontone Matteo , Barbato Alesssandro , Cerutti Matteo , Chiti Nicolò , Corbelli Laura , Rossi Alessio , Soldovieri Sara , Trinati Eugenio , Municchi Giovanna , Stagi Stefano

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...

hrp0098p2-88 | Diabetes and Insulin | ESPE2024

Hypopituitarism following traumatic brain injury in children and adolescents - Long-term outcome study in a prospective patient cohort (2017-2023)

Matonti Lorena , Deodati Annalisa , Rapini Novella , Pampanini Valentina , Mariani Carlo , Elisa Amodeo Maria , Cianfarani Stefano , Schiaffini Riccardo

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 (...

hrp0098p2-117 | Fat, Metabolism and Obesity | ESPE2024

A paediatric case of Progeroid Lipodystrophy: diagnosis, follow-up and new insights from a de novo mutation in the POLD1 gene.

Cerutti Matteo , Pontone Matteo , Soldovieri Sara , Rossi Alessio , Chiti Nicolò , Corbelli Laura , Trinati Eugenio , Barbato Alessandro , Ricci Franco , Stagi Stefano

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...

hrp0098p3-13 | Adrenals and HPA Axis | ESPE2024

Focus on the project: ITASAG24, observational, multicenter study comparing Italian regions with and without neonatal screening for Congenital Adrenal Hyperplasia

Corbelli Laura , Trinati Eugenio , Barbato Alessandro , Pontone Matteo , Rossi Alessio , Soldovieri Sara , Cerutti Matteo , Luigi Marseglia Gian , Stagi Stefano

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...

hrp0098p3-188 | Multisystem Endocrine Disorders | ESPE2024

Hypothyroidism with thyroid gland in place as the initial sign of a rare disease with typical phenotypic characteristics

Soldovieri Sara , Trinati Eugenio , Corbelli Laura , Pontone Matteo , Cerutti Matteo , Barbato Alessandro , Rossi Alessio , Chiti Nicolò , Stagi Stefano

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...

hrp0098p3-202 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) in a paediatric patient with fetal alcohol syndrome – A case report

Trinati Eugenio , Soldovieri Sara , Corbelli Laura , Barbato Alessandro , Cerutti Matteo , Chiti Nicolo' , Rossi Alessio , Pontone Matteo , Varriale Gaia , Stagi Stefano

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...

hrp0095rfc11.3 | Late Breaking | ESPE2022

Predictors of kidney damage development in children with metabolically healthy and metabolically unhealthy obese phenotypes

Di Sessa Anna , Paride Passaro Antonio , Maria Colasante Alberto , Ferrara Serena , Rosaria Umano Giuseppina , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

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...

hrp0092rfc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Extra Uterine Growth Restriction (EUGR) in Very Low Birth Weight Infants: Growth Recovery and Neurodevelopment by the Corrected Age of 2 Years Old

Lucaccioni Laura , Arrigoni Marta , Della Casa Elisa , Bertoncelli Natascia , Predieri Barbara , Berardi Alberto , Pugliese Marisa , Ferrari Fabrizio , Iughetti Lorenzo

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...