ESPE Abstracts

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...