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...

hrp0092rfc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endothelial Function in Childhood Standard Risk Acute Lymphoblastic Leukemia Survivors: Role of Subclinical Markers and Identification of Preventable Factors

Bruzzi Patrizia , Bigi Elena , Felici Francesca , Righi Beatrice , Cano Carmen , Cellini Monica , Predieri Barbara , Iughetti Lorenzo

Background: Adult survivors from childhood malignancy are prone to accelerated atherogenesis and cardiovascular (CV) complications. In this population reliable tools are needed to detect preclinical onset of CV disease.Aim: To assess subclinical markers of inflammation and endothelial dysfunction in young survivors from acute lymphoblastic leukemia (ALL) treated with chemotherapy without cranial irradiation (AIEOP 2000 a...

hrp0095p2-175 | Growth and Syndromes | ESPE2022

Central Hypothyroidism as a manifestation of X linked IGSF1 Deficiency Syndrome: a case report

Righi Beatrice , Rosato Simonetta , Trimarchi Gabriele , Cattini Umberto , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

hrp0092p1-185 | Diabetes and Insulin (1) | ESPE2019

Endothelial and Heart Dysfunction in Children and Adolescents with Type 1 Diabetes

Predieri Barbara , Lami Francesca , Cenciarelli Valentina , Ciancia Silvia , Righi Beatrice , Madeo Simona F. , Bruzzi Patrizia , Prampolini Beatrice , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...

hrp0094p1-180 | Growth Hormone and IGFs B | ESPE2021

The miRNA network and the interplay between growth and cancer regulating pathways in prepubertal patients with idiopathic isolated growth hormone deficiency (IGHD) on growth hormone (GH) treatment

Catellani Cecilia , Ravegnini Gloria , Sartori Chiara , Righi Beatrice , Poluzzi Silvia , Predieri Barbara , Iughetti Lorenzo , Angelini Sabrina , Elisabeth Street Maria ,

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

hrp0097p1-479 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Early-life exposure to phthalates and minipuberty: is there any relationship?

Lucaccioni Laura , Palandri Lucia , Trevisani Viola , Righi Beatrice , Calandra Bonaura Filippo , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: Nowadays, the role of minipuberty in influencing pubertal development is well documented. Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs) with reproductive toxic effect. Aim of this study is to assess phthalate exposure within the first months of life in a cohort of healthy term infants and their mothers and the possible relationship with minipuberty.Methods: Sin...

hrp0089p2-p307 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of GnRH-Analogue Therapy on the Quality of Life of Patients with Central Precocious Puberty and Their Families

Lucaccioni Laura , Pugliese Marisa , Manzotti Elena , Bruzzi Patrizia , Righi Beatrice , Poluzzi Silvia , Madeo Simona F , Bigi Elena , Predieri Barbara , Iughetti Lorenzo

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...

hrp0094p2-405 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Serum high mobility group box 1 (HMGB1) levels are independently associated with glucose clamp-derived measures of insulin resistance in PCOS

Catellani Cecilia , Migazzi Matteo , Sartori Chiara , Dauriz Marco , Righi Beatrice , Cirillo Francesca , Villani Michela , Tosi Flavia , Moghetti Paolo , Street Maria Elisabeth

Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age, and is characterised by chronic inflammation and in most cases by insulin resistance besides ovulatory dysfunction and hyperandrogenism. HMGB1 is a small protein with cytokine activity that can activate nuclear factor kappa light chain enhancer of activated B cells (Nf-kB), and signals through the Receptor for advanced glycation end products (RAGEs) and through the T...

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...