ESPE Abstracts

Background: In-vivo skeletal MRI imaging remains challenging due to the extremely short MR relaxation times (<1 ms) of protons bound to water in bone. However, each MRI sequence contains properties identifiable through feature-based recognition, highlighting characteristics relating to skeletal configuration. We thus present a novel statistical method for clinical 1.5 Tesla (T) MRI in quantifying trabecular microstructure and use HRpQCT to determine its accuracy.<...

Background: Classical and non-classical congenital lipoid adrenal hyperplasia (CLAH) are extremely rare condition caused by mutations in StAR. The degree of enzyme activity impairment determines the clinical phenotypes.Objective and hypotheses: To identify the genetic cause of primary adrenal insufficiency in a cohort of patients from 13 unrelated families with classical and non-classical CLAH, to correlate genotype to phenotype and to identify ...

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

Background: The lipodystrophy syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalised lipodystrophy since birth, insulin resistance, and dyslipemia since early infancy.Case presentation: We report a 6-year-old girl who arrived from Pakistan with...

Background: Local oestrogen production in the brain regulates critical functions including neuronal development, gonadotropin secretion and sexual behaviour. In the mouse brain, a 36 kb distal promoter (l.f) regulates the Cyp19a1 gene that encodes aromatase, the key enzyme for oestrogen biosynthesis. In vitro, promoter l.f interacts with oestrogen receptor alpha (Esr1) and Progesterone receptor (Pgr) to mediate Cyp19a1 mRNA expressi...

Background: Cystic fibrosis-related diabetes (CFRD) and glucose abnormalities have a negative impact on pulmonary function and survival in cystic fibrosis (CF) patients. Oral glucose tolerance test (OGGT) is the screening test of choice for CFRD, although undetected high glucose levels can be missed with this test. The use of a continuous intersticial fluid glucose monitoring system (CGM) can be useful in these patients.Objective and hypotheses: To deter...

Background: Mutations in the PPARG gene, encoding peroxisome proliferator-activated receptor-gamma (PPARG) are associated with Familial lipodystrophy type 3. PPARG regulates fatty acid storage and glucose metabolism. The genes activated by PPARG stimulate lipid uptake and adipogenese by fat cells. In cases of lipodystrophy and defects of adipogenesis lipoid accumulates ectopically in the liver, skeletal muscle, pancreas and cardiovascular tissues and impairs the function of th...

Background: Adipocyte fatty acid binding protein (aFABP) regulates intracellular transport of fatty acids and seems to be involved in the pathogenesis of the Metabolic Syndrome. aFABP overproduction leads to increased cholesterol and triglyceride accumulation and to higher expression of pro-inflammatory genes. In adults aFABP seems to promote insulin resistance and atherosclerosis, and aFABP levels are significantly higher in obese compared to lean subjects. Fat mass, lipid ma...

Background: Polycystic ovary syndrome (PCOS) represents one of the most common complains for adolescent girls to present to endocrinologist. PCOS has the potential to affect the young person both metabolically, physically, psychologically and socially.Objective: To evaluate the metabolic and psychological consequences of PCOS in adolescent girls.Method: Adolescent girls admitted in the Endocrinology Department of Children Emergency...

SHOX deficiency causes a spectrum of clinical phenotypes related to skeletal dysplasia and short stature, including Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome, and idiopathic short stature. SHOX controls chondrocyte proliferation and differentiation, bone maturation, cellular growth arrest and apoptosis via transcriptional regulation of its direct target genes NPPB, FGFR3, and CTGF. However, our u...