ESPE Abstracts

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

Background: Pseudohypoaldosteronism (PHPA1) is a disorder of impaired renal electrolytes re-absorption and excretion. Primary PHPA1 has two clinically and genetically distinct forms: (i) Renal autosomal dominant form, which involves a mutation in the mineralocorticoid receptor; (ii) Systemic autosomal recessive form, which involves a mutation in the epithelial sodium channel. PHPA1 can be also transient secondary to urinary tract infections (UTI)/malformations.<p class="ab...

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause for persisting hypoglycaemia in infancy. Genetic causes are mutations in ABCC8 or KCNJ11 (coding for K+ATP-channel subunits), less frequently mutations in GCK or GLUD1. Further genetic examinations are usually performed only if phenotypic aspects point to other specific genes, such as the rare short chain 3-hydroxylacyl-CoA dehydrogenase (<...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

Background: There is a direct relation between C-reactive protein and leukocyte count as indicators of inflammation. The neutrophil lymphocyte ratio (NLR) is the balance between both cells and is considered a marker of low-grade inflammation and an indicator of high risk of cardiovascular events. An elevated NLR is related with type 2 diabetes (T2D), however, even when in type 1 diabetes (T1D) there is an underlying inflammatory process, an elevation of circulating neutrophils...

Background: Cystic fibrosis is an autosomal recessive genetic disorder affecting typically the lungs, the pancreas, the gastrointestinal tract and tissues that produce mucus secretion, such as sweat glands. Impaired glucose tolerance and cystic fibrosis-related diabetes are the most common complications of cystic fibrosis. Cystic fibrosis-related diabetes is another type of diabetes mellitus and carries some of the characteristics of type1 and type2 diabetes.<p class="abst...

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

Background: Recent studies show negative impact of the use of television while having food on the eating patterns.Objective and hypotheses: Our goal is to use cluster analysis to evaluate this influence in children.Method: In 895 Spanish children and adolescents (47% male and 53% female), from 3 to 18 years of age (10.25±2.67 years), a validated food frequency and food consumption habits questionnaire (CFCA) is performed. Thre...