hrp0098p1-264 | Growth and Syndromes 4 | ESPE2024

Single center prospective study on the Efficacy and Safety of Vosoritide Therapy in Achondroplasia: A Comprehensive Evaluation at Three and Six Months

Leonardi Roberta , Rapisarda Gianvito , Costanza Giuseppe , Leone Guido , Caruso Nicoletti Manuela

Background: Achondroplasia is the most common form of osteochondrodysplasia, characterized by abnormal bone and cartilage growth leading to dwarfism and short limbs. It is caused by autosomal dominant mutations in the FGFR3 gene, leading to constitutive activation of the FGFR3 receptor, inhibiting chondrocyte proliferation and disrupting normal bone growth. Vosoritide is a 39-amino acid CNP peptide analogue, indicated for treating achondroplasia in patients ov...

hrp0092p2-75 | Diabetes and Insulin | ESPE2019

Insulin Treatment of Cystic Fibrosis Related Diabetes (CFRD) on BMI and Respiratory Function

Giugno Andrea , Lo Presti Donatella , Leonardi Salvatore , Parisi Giuseppe , Timpanaro Tiziana , Papale Mariella , Rotolo Novella , Sauna Alessandra , Caruso-Nicoletti Manuela

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...

hrp0097t7 | Section | ESPE2023

Variants in the Neurodevelopmental Gene Bone Morphogenic Protein/Retinoic Acid Inducible Neural-Specific 2 (BRINP2) are Associated with Severe Delayed Puberty

Al-Sayed Yasmin , Howrad Sasha , Guasti Leonardo , Oleari Roberto

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

hrp0098p2-147 | GH and IGFs | ESPE2024

Is somatotropin therapy lowering the risk of SARS-CoV-2 infection in children with growth hormone deficiency and idiopathic short stature?

Bril Gherta , Bril Paroz Roberta

COVID-19 is a worldwide pandemic caused by SARS-CoV-2, to which adults are usually more susceptible than children. Growth hormone (GH) levels differ between children and adults and decrease with age. There is bidirectional crosstalk between the GH/insulin-like growth factor-1 (IGF-1) pathway and the immune system that plays a significant role in SARS-CoV-2 infection. We evaluated the association between somatotropin treatment (GH replacement therapy) and the risk for SARS-CoV-...

hrp0082p1-d1-238 | Thyroid | ESPE2014

Homozygous Deletion of The TSHβ Subunit Gene Causes Congenital Secondary Hypothyroidism in a Consanguineous Family of Turkish Descent

Hermanns Pia , Klotz Cherize , Couch Robert , Leonard Norma , Pohlenz Joachim

Background: A 6-week-old male was admitted for investigation of prolonged jaundice. The pregnancy was unremarkable with a normal at term delivery. The neonatal screening was unremarkable. The boy was born to consanguineous parents of Turkish descent.Objective and hypotheses: At presentation serum levels of thyrotropin, T4 and T3 were low and prolactin slightly elevated. Venous TSH was undetectable low. Central hypothyroidism was dia...

hrp0095p2-251 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Clinical and Ultrasound Diagnosis of A Complicated Giant Ovarian Teratoma

Guercio Nuzio Salvatore , Basile Roberta , Coccorullo Paola , D'Isanto Livio

Introduction: A 12-year-old girl has been accepted in our emergency room for persistent abdominal pain associated with nausea, dysuria and difficulty walking. Abdominal pain is localized on the left side and is acute, stabbing, intermittent and non radiating. The menstrual cycle is normal, both in duration and intensity. Family history does not reveal a significant background. The girl is apyretic with normal vital parameters. The abdomen appears expanded and ...

hrp0086p2-p586 | Perinatal Endocrinology P2 | ESPE2016

Hyperthyrotropinemia of the Preterm Newborn: Treat or Not to Treat?

Ossola Serena , Diana Manuela , Cardani Roberta , Agosti Massimo , Salvatoni Alessandro

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

hrp0084p3-1046 | Growth | ESPE2015

Final Height in Patients with and without Pituitary Abnormalities Detected by MRI and/or CT Treated with GH

Schmitt-Lobe Maria Claudia , Webster Paula , Webster Roberta

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...

hrp0092s7.1 | Adrenal Insufficiency: New Mechanisms, New Therapies | ESPE2019

Novel Interventions to Treat Adrenal Insufficiency

Guasti Leonardo

The generation of functional, long-lived adrenocortical cells through reprogramming from pluripotent stem cells or via lineage conversion strategies, could offer an alternative treatment modality for adrenal insufficiency (AI) due to a variety of causes, such as mutation in steroidogenic enzymes as seen in congenital adrenal hyperplasia (CAH). The recent generation of human induced steroidogenic cells (hiSCs) from fibroblasts, blood- and urine-derived cells established from he...

hrp0094wg2.1 | ESPE Working Group on Obesity (OWG) Symposium | ESPE2021

Environmental obesogens

Trasande Leonardo ,

Rapidly accumulating evidence supports the role of synthetic chemicals as obesogens and cardiometabolic risks. This presentation provides an overview of the latest evidence, safe and simple steps for prevention, and business case for policy intervention....