hrp0094p2-209 | Fat, metabolism and obesity | ESPE2021

A novel homozygous variant of the leptin receptor (LEPR) gene causing familiar early-onset severe obesity in two siblings

Molinari Silvia , Ceccarini Giovanni , Masera Nicoletta , Spano Alice , Maitz Silvia , Fossati Chiara , Lazzerotti Alessandra , Santini Ferruccio , Cattoni Alessandro ,

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...

hrp0097p1-517 | Growth and Syndromes | ESPE2023

Bridging the gap between short stature and metabolic alterations in children born small for gestational age: an exploratory study

Rodari Giulia , Citterio Valeria , Collini Valentina , Risio Alessandro , Profka Eriselda , Giacchetti Federico , Arosio Maura , Mantovani Giovanna , Giavoli Claudia

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements (cardiovascular disease, hypertension and type 2 diabetes), the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic paramete...

hrp0098fc10.3 | Multisystem Endocrine Disorders | ESPE2024

Endocrine disorders in a wide cohort of children and adolescents affected by Neurofibromatosis type 1

Collini Valentina , Risio Alessandro , Grilli Federico , Rodari Giulia , Citterio Valeria , Giacchetti Federico , Profka Eriselda , Mantovani Giovanna , Giavoli Claudia

Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder affecting 1:3000 individuals. Endocrine comorbidities have been reported in 1%-3% of all NF1 patients. In children, central precocious puberty (CPP) is the most frequent endocrinopathy (3%). Other endocrinological problems associated with this condition are short stature, growth hormone (GH) deficiency/excess, calcium-phosphate metabolism derangement and decreased bone mineral density...

hrp0098p2-246 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

The role of insulin-like growth factor-I in predicting growth velocity during GnRH-agonists treatment for central precocious puberty.

Citterio Valeria , Rodari Giulia , Collini Valentina , Risio Alessandro , Comitani Sofia , Profka Eriselda , Giacchetti Federico , Mantovani Giovanna , Giavoli Claudia

Introduction: Central precocious puberty is characterized by early activation of pituitary-gonadal axis, often associated with high levels of insulin-like growth factor-I (IGF-I), together with accelerated growth and bone maturation, which can ultimately lead to a low adult height (HT). Treatment with GnRH-agonists (GnRHa) can help reducing growth acceleration and rate of bone maturation, though not always restoring prepubertal growth velocity. The causes of d...

hrp0092p1-97 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Patti Giuseppa , Scianguetta Saverio , Balsamo Antonio , Cappa Marco , Corbetta Sabrina , Gaudino Rossella , Iughetti Lorenzo , Salerno Maria Carolina , Napoli Flavia , Peri Alessandro , Maghnie Mohamad , Perrotta Silverio , Di Iorgi Natascia

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

hrp0086p1-p898 | Thyroid P1 | ESPE2016

Do Different Initial Doses of L-T4 within the Range of 10-15 mcg/kg/day Influence Neurodevelopment during the First Two Years of Life in Children with Congenital Hypothyroidism?

Esposito Andrea , Bravaccio Carmela , Bruzzese Dario , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Peroni Elena , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

hrp0084p2-254 | Diabetes | ESPE2015

Can We Rely on Finger Stick Haemoglobin A1c? Comparison of Levels Assayed by DCA 2000 with IFCC Reference Method in a Paediatric Cohort

Tornese Gianluca , Milic Nadia , Spetti Laura , Gembrini Daniela , Loganes Carmen , Pellegrin Maria Chiara , Radillo Lucia , Radillo Oriano , Faleschini Elena , Ventura Alessandro

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...

hrp0084p3-943 | GH &amp; IGF | ESPE2015

Influence of the Application of the POI Score on the Results of GH Therapy in Prader-Willi

Salvatoni Alessandro , Bocchini Sarah , Crino Antonino , Di Candia Stefania , Grugni Graziano , Iughetti Lorenzo , Nespoli Luigi , Nosetti Luana , Padoan Giovanni , Pilotta Alba , Piran Marzia , Russotto Valeria Spica

Background: According to international guidelines Prader-Willi children during GH treatment must be closely monitored by polysomnography, ENT evaluation and IGF1 levels.Objective and hypotheses: The study aims to determine whether the modulation of GH therapy in children and adolescents with Prader-Willi Syndrome with a specific decisional score (POI score; Salvatoni A., Horm Res Paediatr. 2012) changes and to what extent the results of the therapy.<...

hrp0097p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

The IGF system shows changes in the follicular fluid of women with PCOS.

Sartori Chiara , Catellani Cecilia , Buia Veronica , Croci Stefania , Righi Beatrice , Morini Daria , Immacolata Falbo Angela , Nicoli Alessia , De Fanti Alessandro , Teresa Villani Maria , Elisabeth Street Maria

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

hrp0098rfc1.6 | Diabetes and Insulin | ESPE2024

Metabolic dysfunction-associated steatotic liver disease and its association with glycemic control metrics in children and adolescents with type 1 diabetes: an exploratory study

Maffeis Claudio , Piona Claudia , Morandi Anita , Marigliano Marco , Morotti Elisa , Mancioppi Valentina , Zusi Chiara , Emiliani Federica , Mantovani Alessandro , Colecchia Antonio , Targher Giovanni

Context: Metabolic dysfunction-associated fatty liver disease (MASLD) is the most common chronic liver disease. Recent data showed that MASLD is a common condition also in adults with type 1 diabetes (T1D) and it is independently associated with an increased risk of diabetic complications.Aims: To examine the prevalence of MASLD and its association with glycemic control metrics in children and adolescents with T1D.<p...