ESPE Abstracts

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

Background: One of the main concerns in patients with growth disorders is to achieve optimal adherence to growth hormone (GH) treatment. For this it is important to identify patients with low adherence to treatment and to evaluate actions to improve it.The Merck Patient Support Program (PSP) carried out educational actions aimed at patients with low adherence and their parents, to raise their awareness of the importance of good adherence...

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Background: 25-Hydroxyvitamin D (25(OH)D) deficiency is reported to be common in patients with rheumatoid arthritis and associated with disease activity, physical disability, and cardiometabolic intermediates; data in patients with juvenile idiopathic arthritis (JIA) are inconsistent.Objective and hypotheses: To assess serum 25(OH)D in children, adolescents, and young adults with JIA, and to identify the risk factors for vitamin D deficiency in JIA patie...

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

Background: Dietary carbohydrate restriction in the treatment of obese adolescents could cause a substantial shift in the substrates used as an energy source, inducing changes on body composition and metabolism, but experience in this age range is limited.Objective: We assessed the influence of 6 months of dietary carbohydrate restriction on body composition and lipid and carbohydrate metabolism in obese adolescents.Method: Thirty-...

Background: Impaired glucose tolerance ((IGT), glucose ≥140mg/dl at 120’ in the oral-glucose-tolerance-test (OGTT)) is prevalent in childhood obesity. It is frequently reversed after weight loss, although an eventual role for metformin treatment has been postulated.Objective: To evaluate the benefits of metformin addition to conservative treatment on weight loss and IGT in obese children.Patients and methods: We studied ...