hrp0097p1-512 | Growth and Syndromes | ESPE2023

Growth and final height of adolescents with systemic juvenile idiopathic arthritis in the transitional age: a monocentric case series

Cristina Maggio Maria , Corsello Giovanni

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

hrp0095p1-104 | GH and IGFs | ESPE2022

SARS-CoV-2 pandemic and GH treatment: new strategies to abate the distance

Corsello Giovanni , Campa Luigi , Cristina Maggio Maria

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

hrp0086p2-p169 | Bone & Mineral Metabolism P2 | ESPE2016

Rickets as Precocious Sign of Celiac Disease

Cristina Maggio Maria , Vergara Beatrice , Corsello Giovanni

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

hrp0095p1-102 | GH and IGFs | ESPE2022

Growth and Growth Delay in Children with Systemic Juvenile Idiopathic Arthritis: A Single Center Study

Cristina Maggio Maria , Genesia Alizzi Clotilde , Corsello Giovanni

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

hrp0092p2-192 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and the Impact on Final Height: Report of a Pedigree

Maggio Maria Cristina , Mulè Flavia , Cardella Francesca , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

hrp0089p3-p245 | Growth & Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Maggio Maria Cristina , Malacarne Michela , Vergara Beatrice , Corsello Giovanni

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

hrp0082p2-d2-609 | Thyroid (1) | ESPE2014

Auxological Pattern, BMI and Endocrine Follow Up in Children with Congenital Hypothiroidism: the Data of the Pediatric Clinic of Palermo

Maggio Maria Cristina , Mineo Mariagrazia Irene , Maltese Marilena , Corsello Giovanni

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

hrp0082p3-d2-638 | Adrenals &amp; HP Axis (1) | ESPE2014

Addison Disease and Atrophic Gastritis: High Persistent ACTH Levels Although an Adequate Treatment

Prinzi Eugenia , Serraino Francesca , Maggio Maria Cristina , Corsello Giovanni

Background: Primary Addison’s disease (AD) is a rare endocrine condition, with reduced or absent secretion of adrenal hormones. Steroid replacement therapy normalizes endocrine assess and the quality of life. More than a half of patients display additional autoimmune conditions, which represent a considerable clinical concern.Objective and hypotheses: Antiparietal cells antibodies (APC-Ab) are commonly found in patients with autoimmune Addison’...

hrp0082p3-d2-990 | Thyroid (1) | ESPE2014

Bmi and Auxological Follow Up in Children with Hashimoto Thyroiditis: Utility of a Phisical Activity Program

Corsello Giovanni , Maltese Marilena , Mineo Mariagrazia Irene , Maggio Maria Cristina

Background: Hashimoto thyroiditis (HT) is the most frequent acquired thyroid disease in childhood and adolescence. However it can evolve silently also for a long period, without signs and/or symptoms evocative of the diagnosis.Objective and hypotheses: A late diagnosis can reduce growth velocity, increase weight and particularly BMI, with an increased risk of obesity in pubertal age.Method: We analyzed 39 patients (age: 11.3±3...