ESPE Abstracts

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).Clinical history: R., a 1 year and 6 m...

On 01/14/2021, the European Commission authorized the marketing of Baqsimi® 3 mg (nasal glucagon), a powder medicine, ready to be used, in the treatment of severe hypoglycemia in adults, adolescents and children over four years of age with diabetes mellitus. Baqsimi® is the first and only nasal glucagon treatment available approved in the European Union (EU), and has been designed as a rescue treatment in cases of severe hypoglycemia, being absorbed passively into the ...

Almost 100 years ago, a major turning point in the life expectancy of people with diabetes around the world was reached with the discovery of insulin. In 1936, Hagedorn had the ingenious idea of combining insulin with a protein, protamine, and zinc and his NPH was used almost mainly in pediatrics until the end of 2003, when glargine U100 made its appearance.Objective: To evaluate the clinical experience in the incorporation of different ...

Introduction: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesterol esters and triglycerides. Clinical manifestations are heterogeneous in terms of age of onset, severity and biochemical and radiological findings. Dyslipidemia, hepatomegaly and hepatosteatosis with hypertransaminasemia are the most common features. There is significant evidence of incre...

Background: A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-2). Cytochrome P450 proteins perform several reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic variations in POR can impact many different metabolic pathways by changing the activities of cytochromes P450 (1). In 2004 the first human patients with defe...

People born with a variation in sex characteristics (VSC) face the challenge of having atypically sexed bodies. This quantitative study recruited 10 young adults with a VSC (14 to 24 years); 18 parents of children with a VSC; and 22 health professionals working in the VSC field. Interviews were semi structured, digitally recorded and transcribed. Using thematic analysis, we identified key themes regarding participants' experiences of health care decision-making. This study...

Background: Klinefelter syndrome (KS) is a frequent anomaly of sex chromosomes, due to the presence of an extra X chromosome (one or more) in the karyotype 46, XY. This disease is characterized by hypergonadotropic hypogonadism and a high risk of developing disorders of carbohydrate and fat metabolism, despite the absence of a pronounced androgen deficiency in adolescents with KS. There are reports of changes in body composition in adolescents with KS even bef...

Background/Aims: It is known that growth hormone regulated metabolic processes, including lipid metabolism and the amount of adipose tissue. The purpose was to study metabolic rates at rest in children with growth hormone deficiency (GHD) and their relationship with lipid and hormone levels.Objective: To analyse the body composition and resting metabolic rate (RMR) among prepubertal children with GHD<p class="abstext...

Adrenoleukodystrophy is an X-linked, inherited metabolic disorder. Here, we present 3 clinical cases of different phenotypes with one mutation in ABCD1 gene in one family.Patient 1: At the age of 9 years, manifestation of neurological symptoms was observed, skin color changed, these symptoms progressed monthly. MRI of the brain showed 13 points on Loes scale.During the examination, the diagnosis of X-linke...