hrp0082p3-d1-630 | Adrenals & HP Axis | ESPE2014

Clinical Case of Cushing Syndrome in Secreting NET

Musolino Gianluca , Piran Marzia , Chiaravalli Stefano , Nespoli Luigi , Salvatoni Alessandro

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

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...

hrp0097p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

COX deficiency: undescribed endocrinological features in three patients with SCO1 mutation

Barbato Alessandro , Gori Giulia , Sacchini Michele , Pochiero Francesca , Stagi Stefano

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

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...

hrp0097p1-374 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Metabolic health status and cortisol metabolism of adolescents with gender incongruence / gender dysphoria during process of diagnosis

Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Januszek-Trzciąkowska Aleksandra , Karbowska Dorota , Gawlik Jakub , Nowak Zuzanna , Jakubowski Tomasz

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth, and can lead to significant distress and gender dysphoria (GD). In various studies it has been associated with a predisposition to developing pathological eating behaviours, which in turn negatively influence the individual’s metabolic health. In our study we examine selected markers of metabolic condition and assess sur...

hrp0097p1-379 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Hyperandrogenism in adolescents assigned female at birth during process of gender incongruence/ gender dysphoria diagnosis

Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Januszek-Trzciąkowska Aleksandra , Karbowska Dorota , Gawlik Jakub , Nowak Zuzanna , Jakubowski Tomasz

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth and can lead to significant distress and gender dysphoria (GD). Some studies have shown a higher prevalence of hyperandrogenism (HA) in transboys/transmen than among the cisgender female population and considered its meaning in the context the of gender identity development. Therefore, further studies confirming this observatio...

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...