ESPE Abstracts

Background: Homozygous or compound heterozygous mutations of gene CYP24A1 have recently been reported to cause idiopathic infantile hypercalcemia due to increased intestinal absorption of calcium. However, an autosomal dominant transmission with partial penetrance of the trait was also suggested.Objective and hypotheses: Evaluation of the frequency of CYP24A1 mutation and evaluation of the impact of heterozygous mutation on calcium meta...

Background: While the primary function of vitamin D relates to calcium and bone metabolism, it is now recognised that vitamin D is a potent immunomodulator. In vitro, 1,25(OH)2D has been shown to suppress pro-inflammatory cytokines, such as TNF-α and IL6, while up regulating synthesis of anti-inflammatory cytokines, IL10 and IL4. Previous in vitro studies have yielded inconsistent results on the relationship between 25OHD and cytokines in adul...

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

Background: VDDR-II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene.Objective and hypotheses: 2 years old Turkish girl first offspring of consanguineous parents admitted to the hospital for the evaluation of total alopecia and bilaterally genu varum deformity. She was born with normal pilosi...

Background: Idiopathic isolated hypoparathyroidism is rare in children. Most often aetiology is autoimmune or genetic.Objective and hypotheses: To sequence eleven genes (AIRE, CASR, GATA3, GCM2, PCLN1, PTH, TBCE, TRPM6, GNAS, PRKAR1A, PDE4D) associated with hypoparathyroidism in a child with isolated hypoparathyroidism (IHPT) in order to find a specific gene alteration in IHPT.Method: We systematically sequenced the 11 gen...

Background and aims: Folate and vitamin B12 are methyl donors (MD) needed for the synthesis of methionine, which is the precursor of S-adenosylmethionine (SAM), the substrate of methylation in epigenetic, and epigenomic pathways. Low dietary intakes of folate and vitamin B12 are frequent, especially in pregnant women and in the elderly, and deficiency constitutes a risk factor for various diseases. The MD deficiency (MDD) leads to a decrease in SAM:SAH (S-ade...

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

Background: It has been reported that short-term increases of the bone formation markers intact amino-terminal propeptide of type I procollagen (PINP), bone-specific alkaline phosphatase (BALP) and osteocalcin display different temporal patterns. In adults, the biphasic model of GH action in bone remodelling shows that GH treatment results initially in an increased bone resorption with a concomitant bone loss, which later on is followed by increased bone formation. In children...