hrp0097p1-359 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

An Evaluation of coping strategies in girls diagnosed of central precocious puberty before and after the COVID-19 lockdown, and in their mothers: preliminary study.

E Street Maria , Rollo Dolores , Rossi Maurizio , Sartori Chiara , Petraroli Maddalena , Pilloni Simone , Francavilla Roberta , Lattanzi Claudia , Miglioli Irene , Iughetti Lorenzo , Stagi Stefano

During the COVID-19 pandemic, a significant increase in Central Precocious Puberty(CPP) has been observed worldwide. The reasons for this phenomenon are yet unclear. In order to evaluate if fear, stress and coping strategies used by children and parents when dealing with negative emotional situations and health issues might have acted as triggers for this phenomenon, we administered specific questionnaires to girls who had a diagnosis of CPP before and after the COVID-19 relat...

hrp0098fc7.3 | GH and IGFs | ESPE2024

Growth hormone (GH) deficiency and subsequent replacement therapy trigger differential expression of specific miRNAs in males and females: not just a matter of height

Bianco Valentina , Ravegnini Gloria , Shulhai Anna-Mariia , Catellani Cecilia , Sartori Chiara , Righi Beatrice , Maria Roberta Esposito Susanna , Angelini Sabrina , Elisabeth Street Maria

Introduction: Growth hormone (GH) is essential for stimulating growth and cell proliferation through its effects on metabolism, cartilage and bone growth. We have conducted initial studies to find new biomarkers for GH deficiency and early treatment response, focusing on miRNAs expressed in both sexes. We aimed at investigating sex-specific differences in circulating miRNAs at baseline and after 3 months on GH treatment in a cohort of prepubertal children with...

hrp0082wg8.5 | GPED | ESPE2014

Congenital Hypothyroidism Screening Program: the Costa Rican Experience

Bogarin Roberto

Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism...

hrp0086fc10.3 | Perinatal Endocrinology | ESPE2016

Pharmacokinetics of Long Acting Somatostatin Analogue (Lanreotide) Therapy in Hyperinsulinaemic Hypoglycaemia (HH) and Understanding its Molecular Action via Somatostatin Receptors by Immunohistochemistry

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Guemes Maria , Alam Syeda , Senniappan Senthil , Button Roberta , Margetts Rebecca , Levy Hannah , Santacreu Emma Bascompta , Marti Carles Morte , Lezcano Carles Celma , Amin Rakesh , Hussain Khalid

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...

hrp0082p1-d1-174 | Perinatal and Neonatal Endocrinology | ESPE2014

Use of Long Acting Somatostatin Analogue (Lanreotide) in Congenital Hyperinsulinism*

Shah Pratik , Gilbert Clare , Morgan Kate , Hinchey Louise , Levy Hannah , Button Roberta , Landy Niamh , Margetts Rebecca , Senniappan Senthil , Santacreu Emma Bascompta , Marti Carles Morte , Lezcano Carles Celma , Amin Rakesh , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is cause of severe hypoglycaemia. Octreotide (somatostatin analogue), given as four times daily s.c. injections or via a pump, is used as second line treatment in diazoxide unresponsive CHI patients.Objective and hypotheses: The aim of our study was to evaluate the use of a long acting somatostatin analogue (Lanreotide) in patients with CHI.Method: Diffuse CHI patients above three years ...

hrp0084p2-493 | Hypo | ESPE2015

Long Acting Somatostatin Analogue (Lanreotide) Therapy in Congenital Hyperinsulinism – Pharmacokinetics and Long-Term Follow-Up Study

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Alam Syeda , Senniappan Senthil , Button Roberta , Margetts Rebecca , Levy Hannah , Marti Carles Morte , Lezcano Carles Celma , Santacreu Emma Bascompta , Amin Rakesh , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children. Diazoxide and daily octreotide injections are first and second-line of treatment for CHI respectively. Diazoxide can cause severe hypertrichosis resulting in parental anxiety and compliance issues.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of Lanreotide therapy in CHI patients.Method: Patients >6 months of ...

hrp0094p2-172 | Fat, metabolism and obesity | ESPE2021

Metabolic syndrome and birth anthropometric data in Prader-Willi syndrome.

Salvatoni Alessandro , Agosti Massimo , Azzolini Sara , Bonaita Valentina , Crino Antonino , Delvecchio Maurizio , Augusta Greggio Nella , Iughetti Lorenzo , Madeo Simona F , Nosetti Luana , Osimani Sara , Paino Roberta , Rutigliano Irene , Sacco Michele , Salvatore Silvia , Sartorio Alessandro , Grugni Graziano ,

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

hrp0097fc12.2 | Thyroid | ESPE2023

Thyroid function analysis in 48 patients affected by severe combined immunodeficiency caused by adenosine deaminase deficiency

Tarantola Giulia , Pajno Roberta , Vincenzi Gaia , Barzaghi Federica , Migliavacca Maddalena , Abbate Marco , Sophia Fratini Elena , Teresa Petralia Ilenia , Ippolito Alessia , Pia Cicalese Maria , Cristina Vigone Maria , Barera Graziano , Aiuti Alessandro

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...

hrp0098rfc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

MRI-based radiomics of the pituitary gland is highly predictive of CentralPrecocious Puberty in girls: pilot study

Petraroli Maddalena , Dora Patianna Viviana , Maddalo Michele , Masetti Marco , Ormitti Francesca , Fulgoni Alice , Gnocchi Margherita , Piccolo Benedetta , Claudia Turco Emanuela , Sverzellati Nicola , Ghetti Caterina , Maria Roberta Esposito Susanna , Elisabeth Street Maria

Introduction: The diagnostic gold standard for Central Precocious puberty (CPP) is the gonadotropin-releasing hormone (GnRH) stimulation test. MR imaging of the brain (MRI) and the hypothalamus-pituitary region is required to exclude organic causes.Objective: The aim of the study was to explore a radiomic model that could assist physicians in the diagnostic workup of CPP.Methods: 4...

hrp0095p1-335 | Multisystem Endocrine Disorders | ESPE2022

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

Mozzato Chiara , Carecchio Miryam , Salviati Leonardo , Zeviani Massimo , Guazzarotti Laura

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...