ESPE Abstracts

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

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Background: Autoimmune thyroid disease (AITD) is the most common organ-specific autoimmune disorder. Genetic background, environmental and endogenous factors are play important roles in determining the activation of immune cells or the efficacy of the immunoregulatory pathways. Recently emphasizes the immunosuppressive role of B regulatory cells (phenotype CD19+CD24hiCD27+IL-10+, CD19+IL-10+) in regulation of immune respon...

Introduction: Hematopoetic progenitor stem cells (HSCs, CD133+/CD45+) and very small embryonic-like stem cells (VSELs, CD133+/CD45−) can differentiate into specific immune cells. Some studies suggest that levels of HSCs and VSELs change during therapy with growth hormone (GH) or insulin-like growth factor 1 (IGF-1). GH deficiency (GHD), an endocrine disease connected with insufficient production of GH by pituitary gland, is tre...

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...

Introduction: Angiopoietins are necessary for development, differentiation and stabilization vessels progress. Angiopoient 1 (Ang-1) is responsible for vascular integrity, through stimulation of endothelial cell migration and adhesion, and inhibition of apoptosis. Action of angiopoietin 2 (Ang-2), in the absence of VEGF it Leeds to vascular regression, but in the presence of high VEGF concentration it stimulates angiogenesis. Stromal derived factor (SDF-1) play an important ro...

Aim: Resistance to thyroid hormone (RTH) is a disease characterized by decreased sensitivity to thyroid hormone in the peripheral tissues such as cell membrane, metabolism, or nuclear receptor. In THRB gene mutation induced RTH, the effect of T3 on TRβ mutant receptors in the liver and the pituitary decreased, on TRα receptors located in the brain and heart increased. Triac’s activity is similar to T3.Case: A 1-month-old girl patient was a...

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...