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...

hrp0097p2-225 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Oligomenorrhea in two girls with familial mediterranean fever: how chronic inflammation can impair ovarian cycle

Cristina Maggio Maria , Romano Domenico , Callari Simonetta , Corsello Giovanni

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

hrp0095p2-274 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: a case report

Cristina Maggio Maria , Venezia Renato , Maria Di Blasio Anna , Corsello Giovanni

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

hrp0082p2-d2-527 | Pituitary (1) | ESPE2014

Adolescents with Chronic Endocrine Diseases: a Multidisciplinary Approach: the Experience of the Paediatric Clinic of Palermo

Cristina Maggio Maria , Riticella Rita , Salvo Giuseppe , Santangelo Giuseppe , Corsello Giovanni

Background: Adolescents affected by chronic diseases need a specific support and care, in a contest dedicated to them and not integrated with children. They often ask a specific attention to their asks, only partially secondary to their primary disease.Objective and hypotheses: The need of a support in communication of the diagnosis, in the adherence to a long-life or to a prolonged treatment and a long follow-up, with repeated blood samples, strumental ...