hrp0095p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Use of Zoledronic acid in children with sickle cell disease: a single centre experience

Nadar Ruchi , Santos Rui , Cheung Moira , Cocca Alessandra , Inusa Baba , Sakka Sophia

Children with sickle cell disease (SCD) often suffer from back pain and present with vertebral changes, but the use of bisphosphonates is poorly reported. We present our experience on treating six children with SCD with Zoledronate in a tertiary paediatric endocrinology and haematology centre.Population: Six children with SCD were treated with zoledronate infusions between the years 2016-2021. All children had a history of significant mi...

hrp0095p1-281 | Fat, Metabolism and Obesity | ESPE2022

Impact of Covid-19 pandemic on the efficacy of outpatient counseling in childhood obesity management.

Corica Domenico , Li Pomi Alessandra , Curatola Selenia , Pepe Giorgia , Tropeano Angelo , Aversa Tommaso , Wasniewska Malgorzata

Introduction: The Covid-19 pandemic drastically modified social life and lifestyle in particular among children and adolescents, promoting sedentary behaviors and unhealthy eating habits. In this scenario, the effectiveness of the outpatient approach for pediatric obesity may decrease.Objectives: Aims of this study were to assess the rate and the factors associated with outpatient drop-out by comparing two groups of chil...

hrp0095p1-587 | Thyroid | ESPE2022

Sensitivity to Thyroid Hormones and Metabolic Syndrome in Pediatric Patients with Neuromotor Disability

Calcaterra Valeria , Biganzoli Giacomo , Ferraro Simona , Mari Alessandra , Rossi Virginia , Biganzoli Elia , Zuccotti Gianvincenzo

Introduction: Thyroid hormones (THs) play a crucial role in growth, brain development and function and metabolic homeostasis. The sensitivity to TH indices seems to be associated with metabolic syndrome (MS), prediabetes and diabetes in adults. We evaluated the sensitivity to TH indices in a pediatric population with neuromotor disability in relationship with the MS presence, using a multivariate analysis (MVA).Patients and Metho...

hrp0092p2-92 | Diabetes and Insulin | ESPE2019

An Impaired Lipid Profile is a Sign of Reduced Insulin Sensitivity in Children and Adolescents at Type 1 Diabetes Onset

Maltoni Giulio , Zucchini Stefano , Zioutas Maximiliano , Di Natale Valeria , Cassio Alessandra

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

hrp0092p2-186 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical Features in a Patient with Turner Syndrome and Pericentric Inversion of Chromosome 9

Valenzise Mariella , Passanisi Stefano , Pomi Alessandra Li , Zirilli Giuseppina , Messina Maria Francesca , Aversa Tommaso

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

hrp0089fc13.3 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty

Howard Sasha , Oleari Roberto , Mancini Alessandra , Poliandri Ariel , Saengkaew Tansit , Guasti Leo , Cariboni Anna , Dunkel Leo

Objectives: Several different pathogenic mechanisms may converge on a final common pathway to produce the phenotype of delayed pubertal timing. In our cohort of patients with familial self-limited delayed puberty (DP) we have demonstrated mutations in IGSF10 leading to mis-regulation of the embryonic migration of GnRH neurons (Howard et al, EMBO MM 2016). We aimed to discover novel genetic mutations in pathways regulating GnRH neuronal migration and developme...

hrp0089p2-p010 | Adrenals and HPA Axis P2 | ESPE2018

Hypoglycemic Crisis and Salt Loss in Children with Classic Congenital Adrenal Hyperplasia

Badalucco Simona , Meroni Silvia Laura Carla , Di Lascio Alessandra , Gianninoto Moira , Stancampiano Marianna Rita , Russo Gianni

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

hrp0089p3-p267 | Multisystem Endocrine Disorders P3 | ESPE2018

Unusual Clinical Presentation of Autoimmune Polyendocrinopathy Type 1

Baronio Federico , Ortolano Rita , Ferrari Simona , Cassio Alessandra , Maltoni Giulio , Tonti Giacomo , Balsamo Antonio

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

hrp0089p3-p310 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Poland’s Syndrome and Hypogonadotropic Hypogonadism

Stancampiano Marianna Rita , Meroni Silvia Laura Carla , Lascio Alessandra Di , Gianninoto Moira , Russo Gianni

Poland’s syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, associated with the ipsilateral malformation of the hand. The syndrome is usually sporadic and occurs in about 1:32.000 live births. Poland’s syndrome has been described associated with other abnormalities, including renal aplasia or hypoplasia, hemivertebra, Klippel-Feil syndrome and Moebius’ syndrome. In literature are reported six cases of Moebius syndrome associa...

hrp0089p1-p236 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Identification and Analysis of the Genetic Causes of Premature Ovarian Failure (POF) in a Cohort of Adolescent Girls

Rita Stancampiano Marianna , Laura Carla Meroni Silvia , Di Lascio Alessandra , Gianninoto Moira , Russo Gianni

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...