hrp0084p3-1020 | Growth | ESPE2015

GH Deficiency and Glucose 1 Transporter Deficiency Syndrome

Patti Giuseppa , Tornese Gianluca , Costa Paola , Faleschini Elena , Ventura Alessandro

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

hrp0097p2-277 | Late Breaking | ESPE2023

Evaluation of body composition and microcirculation in children and adolescents with growth hormone deficiency: effects of replacement therapy.

Rosa Stefano , Ferruzzi Alessandro , Zoller Thomas , Antoniazzi Franco , Pietrobelli Angelo

Aims: The aim of the study is to evaluate body composition and microcirculation in children and adolescents with growth hormone deficiency (GHD) and the effects of replacement therapy. These parameters were also evaluated in children and adolescents with suspected GH deficiency but in whom drug stimulus testing was later found to be normal.Materials and Methods: We examined 44 patients (25 males and 19 females) aged betw...

hrp0082p2-d1-417 | Growth Hormone | ESPE2014

GH Stimulated Levels in Prader–Willi Syndrome During the Transition Period between Childhood and Adulthood

Grugni Graziano , Corrias Andrea , Di Candia Stefania , Fintini Danilo , Gargantini Luigi , Iughetti Lorenzo , Ragusa Letizia , Salvatoni Alessandro , Sartorio Alessandro , Bocchini Sarah , Delvecchio Maurizio , Chiumello Giuseppe , Crino Antonino

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

hrp0098rfc11.5 | Fat, Metabolism and Obesity 2 | ESPE2024

Hepatic lipogenesis increases FGF21 in children/adolescents with obesity.

Maffeis Claudio , Morandi Anita , Zusi Chiara , Olivieri Francesca , Fornari Elena , Corradi Massimiliano , Emiliani Federica , Da Ros Alessandro , Mantovani Alessandro , Targher Giovanni

Background and aim: Fibroblast growth factor 21 (FGF21) is produced and expressed in several tissues but mainly in the liver and adipose tissue, where it has endocrine and paracrine functions. Several experimental studies reported that FGF21 decreases lipogenesis, triggers beta oxidation of fatty acids, reduces hepatic ER stress and VLDL release and reduces fasting and postprandial triacylglycerols (TG). Consistently, several phase 2 trials with FGF21-agonists...

hrp0098p2-388 | Late Breaking | ESPE2024

IRS-1 as a key point in the regulation of insulin-sensitivity in granulosa cells from PCOS women.

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

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women and is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and often by insulin-resistance. However, little is really known on insulin/IGF signalling in PCOS ovaries. This study aim ed to investigate the amount of Insulin (IR) and IGF-I receptor type I (IGF-IR1) and their intracellular mediators in granulosa cells from PCOS women with r...

hrp0098p2-389 | Late Breaking | ESPE2024

A comprehensive overview of the changes in IGF system peptides in the follicular fluid (FF) of women with Polycystic Ovarian Syndrome (PCOS) and their relationships with BMI and HMGB1

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

Background: PCOS is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and insulin-resistance. The IGFsystem includes IGF-I, -II and seven IGFBPs, which regulate IGFbioavailability. Chronic inflammation modifies the IGF system that regulates ovarian function and glucose metabolism. HMGB1 is related with both inflammation and insulin sensitivity;we previously described increased HMGB1 FF in PCOS. This study aim ed to inves...

hrp0095p1-272 | Fat, Metabolism and Obesity | ESPE2022

High Triglyceride/Hdl Ratio Suggests A Higher Risk of Metabolic Syndrome Among Children and Adolescents with Severe Obesity.

Giorgio Radetti , Fanolla Antonio , Grugni Graziano , Lupi Fiorenzo , Caroli Diana , Bondesan Adele , Sartorio Alessandro

Aim: Few data are currently available on the reliability of the different anthropometric, instrumental and biochemical indexes in recognizing the presence of the metabolic syndrome (MetS) in severe childhood obesity. The objective of our study was to find out a simple and accurate index to use in deciding whether to initiate a search for MetS in this at-risk population.Patients and Methods: A retrospective study based on...

hrp0095p1-303 | GH and IGFs | ESPE2022

Short stature due to a novel missense variant (695C>A) in the GHR gene: a case report.

Righi Beatrice , Trimarchi Gabriele , De Fanti Alessandro , Garavelli Livia , Sartori Chiara , Elisabeth Maria

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

hrp0095p1-533 | Growth and Syndromes | ESPE2022

Central Precocious Puberty in McCune Albright Syndrome: a case report.

Righi Beatrice , Peluso Francesca , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...

hrp0095p2-162 | Growth and Syndromes | ESPE2022

Long term effect of growth hormone treatment in a patient with growth hormone deficiency and mitochondrial disease due to TMEM70 gene mutation

Ciccone Sara , Lasorella Stefania , Giardinelli Silvia , Tagliaferri Alessandro , Ferri Irene , Fede Ludovica , Canale Noemi

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...