hrp0094p1-145 | Sex Endocrinology and Gonads B | ESPE2021

Serum anti-Müllerian hormone as a marker of ovarian reserve among childhood cancer survivors

Molinari Silvia , Parissone Francesca , Evasi Veronica , Marco Santo Di , Biondi Andrea , Cattoni Alessandro ,

Introduction: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of hematological cancer survivors, assessing the relationship between the cumulative dose of alkylating agents administered (expressed as Cyclophosphamide Equivalent Dose - CED) and Anti-Müllerian Hormone (AMH) levels.Methods: Gonada...

hrp0097p1-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical, radiological and laboratory characteristics of thelarche variant: a retrospective analysis

Tamaro Gianluca , Lorenzon Beatrice , Burlo Francesca , Peinkhofer Martina , Faleschini Elena , Tornese Gianluca

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

hrp0097p2-38 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Combined pituitary hormone deficiency caused by a missense de novo variant in FGFR1

Cavallaro Paola , Francesca Messina Maria , Aversa Tommaso , Pepe Giorgia , Wasniewska Malgorzata , Corica Domenico

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

hrp0082p3-d3-787 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Obese Teenagers and Risk of Injuries During School Physical Activity

Lemma Francesco , Messini Beatrice

Background: Injuries occur frequently in the obese young population even if they need to practice physical activity. The greatest part of Italian adolescents plays sports only at school.Objective and hypotheses: The aim of the study was to investigate the relationship between overweight and obesity, and the risk of injuries in adolescents during school physical activity.Method: This is a retrospective cohort study utilizing the ele...

hrp0084s10.1 | Growth plate in chronic diseases | ESPE2015

Molecular Mechanisms of Growth Plate Adaptation During Undernutrition

De Luca Francesco

It is known that almost 180 million children in the world have stunted growth. Most of these children live in eastern and central Africa and in South-central Asia. Among multiple factors causing stunted growth in the developing world, malnutrition is the most important one. On the other hand, reduced caloric intake is also a cause of poor statural growth in developed countries.Mammals, including humans, exposed to malnutrition experience poor bone growth...

hrp0084wg1.2 | Bone &amp; Growth Plate | ESPE2015

The Role of NFkB in Growth Plate Chondrogenesis

De Luca Francesco

Nuclear Factor kappa B (NF-κB) is a group of seven transcription factors, including p65 (RelA), c-Rel, RelB, p50/p105 (NF-κB1), and p52/p100 (NF-κB2). Upon activation by a wide variety of stimuli, NF-κB translocates to the nucleus, where it modulates the expression of target genes involved in cell growth, survival, and death.Previous evidence indicates that NF-κB regulates bone growth and development. Mice deficient in both the N...

hrp0092p1-251 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Central Diabetes Insipidus in Children: Role of GH Antibodies

Napoli Flavia , Pani Fabiana , Gianti Francesca , Di Iorgi Natascia , Morana Giovanni , Allegri Anna Elsa Maria , Al_Thiabat Hanan Farid Mufleh , Gallizia Annalisa , Fava Daniela , Longo Chiara , Olcese Camilla , Vinci Francesco , Pistorio Angela , Caturegli Patrizio , Maghnie Mohamad

Central diabetes insipidus (CDI) in children is caused by brain tumors, Langerhans cell histiocytosis (LCH), trauma, infections, or genetic abnormalities in about 60% of the cases. In the remaining 40%, CDI is idiopathic even after detailed clinical and radiological investigations. Aim of the study was to assess whether measurement of serum antibodies against human growth hormone (GH) could aid in the identification of the etiological factors for CDI.<p class="abst...

hrp0089p3-p037 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Hypophosphatemic Hypercalciuric Ricket: 3 Brothers with Dent’s Disease

Godoy Claudia , Grob Francisca , Gonzalez Gilberto , Vogel Andrea , Zambrano Pedro

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

hrp0095fc9.2 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Can pre-treatment BMI influence long-term anthropometric and metabolic outcomes in girls with idiopathic central precocious puberty treated with GnRHa?

Bruzzi Patrizia , Sandoni Marcello , Valeri Lara , Trevisani Viola , Dalla Porta Francesca , Filomena Madeo Simona , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Gonadotropin releasing hormone analogs (GnRHa) are effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. In last years, however, some transient metabolic complications have been described during the treatment without the reassurance of long-term data yet. The aim of our study is to clarify if body mass index (BMI) at diagnosis of idiopathic central precocious puberty (iCPP) c...

hrp0095p1-78 | Fat, Metabolism and Obesity | ESPE2022

Obstructive sleep apnea (OSA) is associated with the impairment of beta-cell response to glucose in children and adolescents with obesity

Rosaria Umano Giuseppina , Galderisi Alfonso , Aiello Francesca , Martino Mariangela , Di Sessa Anna , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...