hrp0089p2-p140 | Fat, Metabolism and Obesity P2 | ESPE2018

Sex-related Differences and Effect of Puberty on Metabolic Syndrome in Obese Children and Adolescents

Guzzetti Chiara , Ibba Anastasia , Casula Letizia , Pilia Sabrina , Loche Sandro

Introduction: Metabolic syndrome (MS) is a known complication of obesity. It is still unclear whether gender and puberty influence the prevalence of MS in children and adolescents.Objective: Aim of the study was to evaluate the effect of gender and puberty on the prevalence of MS and on cardiovascular risk factors (CVRF) in obese children and adolescents.Patients and Methods: 1437 obese patients (age 9.7 (2.2–17.9) ys; 660 Mal...

hrp0094p2-456 | Thyroid | ESPE2021

Hashimoto Thyroiditis: long term follow-up from childhood to young adulthood

David Francesco , Casula Letizia , Guzzetti Chiara , Ibba Anastasia , Loche Sandro

Introduction: The evolution of Hashimoto Thyroiditis (HT) has been investigated by several studies both in pediatric and adult age. However, there are limited data on the progression of the disease from childhood to adulthood.Objective: Aim of the study was to describe the evolution of thyroid function in children with HT from childhood to young adulthood.Patients and Methods: The diagnosis of HT was defined by the presence of anti...

hrp0094p2-362 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypopituitarism: the role of genetics

Gil Poch Estela , Javier Arroyo Diez Francisco , Mendez Perez Pilar , Galan Gomez Enrique ,

Hypopituitarism refers to the insufficient secretion of one or more pituitary hormones. If default is present at the time of birth is called congenital hypopituitarism (CH). Causes of this are perinatal pathology and genetic alterations. The clinical presentation is heterogeneous. The diagnosis is made by clinical suspicion supported by hormonal determinations, brain imaging test (MRI) searching of structural defects and genetic study. The development of the pituitary gland is...

hrp0095rfc10.3 | GH and IGFs | ESPE2022

A rare HESX1 variant in a patient with congenital hypopituitarism

Anastasia Ibba , Paraluppi Valentina , Lussu Anna , Guzzetti Chiara , Casula Letizia , Loche Sandro

Background: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. Mutations in the genes coding for transcription factors, such HESX1, involved in the development of the pituitary, determine a highly variable phenotype which may include severe midline defects, septo-optic dysplasia and other congenital abnormalities. A small number of HESX1 variants have been identified in humans. The phenotype sh...

hrp0095p1-503 | GH and IGFs | ESPE2022

Adult Height in Patients with Non-Permanent, Idiopathic and Isolated Growth Hormone Deficiency

Guzzetti Chiara , Murianni Agnese , Ibba Anastasia , Casula Letizia , Salerno Mariacarolina , Cappa Marco , Loche Sandro

Background: GH secretion is classically assessed by provocative tests and, indirectly, by IGF-1 serum levels. However, their diagnostic accuracy is low. The aim of the study was to evaluate the adult height (AH) in short patients with IGF-1 ≤-1,5 SDS.Method: 52 short patients (height-SDS -2.6 (-3.1- -2.3), age 12.2 (10.2-13.7) y, 36 boys), with low height velocity(HV)-SDS (-1.6 (-3.2- -0.9)) and IGF-1 ≤-1,5 SDS (-2...

hrp0092p2-178 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Adult Height of Patients Enrolled in PATRO Children, An Ongoing Observational Study of the Long-term Safety And Effectiveness Of Omnitrope®

Kanumakala Shankar , Backeljauw Philippe , Otfried Schwab Karl , Loche Sandro , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is an observational, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). The effect of rhGH treatment on growth and adult height (AH) is assessed as a secondary objective of the study.Methods: This ongoing study is conducted in hospitals and specialised endocrinology clinics across 14 countries. The study po...

hrp0094p1-198 | Thyroid B | ESPE2021

Novel single nucleotide variation in DUOX2 and NPTX1 genes in two Sardinian sisters with transient congenital hypothyroidism

Ibba Anastasia , Guzzetti Chiara , Casula Letizia , Murianni Agnese , Persani Luca , Loche Sandro ,

Introduction: Transient congenital hypothyroidism (TCH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH). Approximately 17%-40% of children diagnosed with CH by newborn screening (NBS), have transient hypothyroidism. Levo-thyroxine (L-T4) early treatment is recommended at the dose 10-15 µg/kg/day. Children with thyroid gland in situ should be re-evaluated after the ...

hrp0094p2-213 | Fat, metabolism and obesity | ESPE2021

Influence of birth weight on cardiovascular risk factors in obese children and adolescents

Paraluppi Valentina , Casano Simona , Guzzetti Chiara , Ibba Anastasia , Murianni Agnese , Gallo Manuela , Casula Letizia , Loche Sandro ,

Background: Birth weight (BW) is associated with the development of obesity, insulin resistance and type-2 diabetes in adulthood. The results of studies on the correlation between BW and the severity of obesity and cardiovascular risk factors (CVRF) among obese children are contradictory. The objective of our study was to evaluate the association between birth weight and the presence of CVRF in genetically homogeneous group of obese children and adolescents.</...

hrp0094p2-250 | Growth hormone and IGFs | ESPE2021

Patterns of suboptimal adherence to growth hormone treatment in children living in Italy

Centonze Chiara , van Dommelen Paula , Tornicasa Vincenzo , Koledova Ekaterina , Loche Sandro ,

Background: Monitoring adherence to growth hormone (GH) treatment is important, because poor adherence can lead to suboptimal clinical outcomes. The easypod™ electromechanical injection device in combination with the web-based easypod™ connect platform electronically records and transmits accurate, objective records of the date, time and dose injected of patients receiving GH with growth disorders, allowing physicians to accurately monitor patients&#...

hrp0097p1-303 | GH and IGFs | ESPE2023

Further analyses on the role of IGF-I in the diagnosis of GH deficiency (GHD) in children

Lussu Anna , Incandela Valeria , Guzzetti Chiara , Ibba Anastasia , Casula Letizia , Loche Sandro

Background: The diagnosis of GHD in children is based on auxological, biochemical, neuro-radiological, and genetic tests. Biochemical tests include evaluation of stimulated GH secretion and baseline IGF-1 determination. Although IGF-1 is the most reliable indicator of GH action, its value should always be interpreted in conjunction with other clinical and biochemical parameters. Since IGF-1 has good specificity (about 90%), but low sensitivity (about 70%), nor...