ESPE Abstracts

Background: Children with congenital adrenal hyperplasia (CAH) need chronic glucocorticoid therapy, both to replace congenital deficit in cortisol synthesis and to suppress the overproduction of androgens by the adrenal cortex. High doses of glucocorticoid taken chronically might affect bone metabolism and lead to alterations of bone mass in this condition. In particular, they could increase bone resorption rate. Bone mineral density (BMD) by energy X-ray abso...

Background: Chronic kidney disease (CKD) was defined by structural or functional renal abnormalities, or an estimated glomerular filtration rate (GFR) of less than 60 mL/min per 1.73 m2. A child with CKD may develop many complications such as: anemia, poor growth and nutrition, bone and mineral disorders, cardiovascular complications, and complications of hemodialysis, and peritoneal dialysis.Aim: Assessment of severity ...

We analyzed the clinical data and the growth parameters of 50 newborns and young infants (age: 1.6 ± 0.9 months) admitted to our hospital (Al Wakhra Hospital, Department of Pediatrics, Doha, Qatar), between 1-1-2016 to 1-1-2017, with acute meningitis. Anthropometric measurements included weight, length, and head circumference. Length SDS (L-SDS) and body-mass-index (BMI) were calculated and recorded at every clinic visit, every 3 months for 8 ± 2 months.<p class=...

Background: Down syndrome (DS) is associated with thyroid dysfunction including both congenital and acquired hypothyroidism (HT) However, data about thyroid function in infants < 1 year with DS is scarce.The aim of this study was to investigate the prevalence of different thyroid dysfunctions in a cohort of infants with DS (n = 47) (22 M, 25 F) and follow up their linear growth and weight gain for an average of 4 years.<p cla...

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of Disorder of Sex development (DSD). It is a group of autosomal recessive disorders caused by deficiency of enzymes involved in synthesis of cortisol, aldosterone or both. The combination of hypocortisolism, hyperandrogenism and adrenal medullary hypofunction due to the disease and side effects of steroids treatment may make these individuals more prone to develop cardiovascular disorders including impa...

We evaluated growth parameters and endocrine disorders in relation to the quantity of liver iron (LIC) measured by the Ferriscan method and insulin-like growth factor 1 (IGF-I) level in a cohort of adolescents with sickle cell disease (SCD) (n=40) and beta thalassemia major (BTM) (n=52) receiving nearly the same protocol of transfusion and iron chelation therapy since early childhood. Before transfusion, hemoglobin concentration had not been less than 9 g/dl ...

Introduction: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. POR is a crucial electron donor to all microsomal type 2 P450 cytochromes (CYPs), including 21-hydroxylase (CYP21A2) and 17alpha-hydroxylase (CYP17A1). The hallmark feature of PORD is combined sex-steroid a...

Background: Angiopoietin-2 is a growth factor involved in the pathophysiology of different vascular and inflammatory diseases such as arteriosclerosis. Carotid or aortic scans provide non-invasive screening tools for assessment of preclinical atherosclerosis in high-risk children.Aim: We assessed serum angiopoietin-2 in children and adolescents with type 1 diabetes mellitus as a potential marker for diabetic vascular complications in relation to glycemic...

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...