Written informed consent was obtained from all parents at the moment of recruitment in the study and before the first data collection. The study was approved by the Ethics Committee of the University of Modena and Reggio Emilia (Protocol number 213/16). Patients with acute complications or comorbidities (genetic disease, congenital heart disease, neurological disease), lost to follow-up or transferred to other centers were excluded. We evaluated 52 children and adolescents with SCD (38 with HbSS and 14 with HbSC) at steady state, aged between 3 and 18 years, who were recruited during the first six months of 2017. This was a cross-sectional population study. Īims of the present study were to define the growth pattern, endocrine complications, and metabolic alterations in children and adolescents with SCD and to evaluate the role of therapeutic regimens in improving anthropometric, endocrine, and metabolic parameters. In children with HbSS, the treatment with HU has been demonstrated to allow growth rates similar to patients with HbSβ + or healthy controls. According to the literature, the prevalence of endocrine and metabolic disorders in children with SCD varies in different populations depending on the literacy rate, socioeconomic status, and access to appropriate treatment. Endocrine disorders appear to be related to vaso-occlusive and ischemic events, rather than iron overload resulting from frequent transfusion. The pathophysiology of these complications is not yet fully understood. However, published data on endocrine and metabolic disorders during childhood and adolescence, such as gonadal insufficiency, thyroid dysfunction, and bone and glycemic metabolism, are really few. Children with SCD have lower height, weight, and body mass index (BMI) than healthy controls. Specifically, poor growth and delay of pubertal development are the most frequent disorders observed in children and adolescent with SCD.

However, the reduction of mortality has led to an increase of long-term complications, including also metabolic and endocrine ones. In high-income countries the great and continuous rise of the SCD survival rate demonstrated in the last decades was mainly due to newborn screening programs, advances in the supportive care, and a better use of disease modifying agents such as Hydrxyurea (HU). Subjects affected by HbSS and HbSβ0 have the most severe phenotype while the other forms have milder clinical manifestations. The HbS mutation can be inherited in homozygosis (HbSS) or in heterozygosis with other β-globin qualitative (HbSC) or quantitative (HbSβ0 and HbSβ+) defects. It is characterized by a high clinical variability because of inflammation, hemolysis, and micro-vascular obstruction leading to unpredictable acute complications and chronic organ damage. Sickle cell disease (SCD) is an inherited disease due to a single-point mutation on the β-globin subunit of hemoglobin (Hb) determining polymerization of the mutant HbS and resulting in sickling of erythrocytes. A regular follow-up is necessary to identify subjects at risk for complications to precociously start an appropriate treatment and to improve the quality of life of SCD patients. Metabolic alterations and endocrine complications are very common in children and adolescents with SCD. In the study population IGF-1 values were significantly and positively correlated with Hb and negatively with lactate dehydrogenase. Subjects with HbSS genotype show significant lower levels of both insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 than children with HbSC. Levels of vitamin D were significantly and negatively correlated with clinical indicators of the SCD severity. Forty-eight out of 52 patients (92%) had at least one metabolic and/or endocrine alteration: insufficiency/deficiency of vitamin D (84.7%), insulin resistance (11.5%), growth hormone deficiency (3.8%), subclinical hypothyroidism (3.8%), and hypogonadism (1.9%). Height-SDS adjusted for TH and BMI-SDS were significantly higher in HbSC children than in HbSS ones. The SCD severity was defined according to hematological and clinical parameters. Anthropometric and laboratory data were evaluated. Methodsįifty-two children and adolescents with SCD were recruited. Aims of this study were to evaluate the growth pattern, endocrine complications, and metabolic alterations and to detect the relationship between these conditions and the SCD severity in affected children and adolescents. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations.

Endocrine system indicators