ESPE Abstracts

Background: β-thalassemia major (β-TM) is the most common genetically determined chronic hemolytic anemia. Studies reported that patients with β-thalassemia are zinc deficient due to increased utilization of zinc by oxidative stress, increased urinary zinc excretion and sequestration in the liver.The development of abnormal glucose tolerance in β-TM is associated with alteration in oxidant-antioxidant status. Zinc plays an essen...

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

Introduction: Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rare disease. Several genetic factors caused to neonatal disease have been identified to date. PTF1A (pancreatic transcription factor 1a) play a key role in early pancreas development and cerebellar neurogenesis. Biallelic mutations in PTF1A have been reported in patients with pancreatic and cerebellar agenesis, whereas mutations loc...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

Introduction: Testicular regression syndrome (TRS) is a rare disease characterized by testicular dysfunction that causes varying degrees of virilization defect according to the emergence period in fetal life. The majority of cases present with normal male external genitalia. However, ambigious genitalia or, more rarely, female external genitalia can be found depending on the extent and timing of the intrauterine accident. Here, we present a case of TRS with no...

Background: Type 1 diabetes (T1D) is a risk factor for cardiovascular disease (CVD) and alterations may manifest as early as in adolescence. Increased physical activity and reduced sedentary behavior reduce the risk of CVD development in general adult populations, but knowledge is limited on their associations with early markers of CVD risk in pediatric T1D.Objective: Estimate associations of physical activity and sedent...

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Background: Rare genetic diseases of obesity can be caused by genetic variants leading to disrupted activity of the melanocortin-4 receptor pathway (MC4R). Setmelanotide, an MC4R agonist, is being investigated in a basket study of populations with rare variants in different genes in the MC4R pathway who have early-onset, severe obesity and hyperphagia.Methods: This ongoing, Phase 2, open-label study (NCT03013543) enrolle...