ESPE Abstracts

Introduction: Prader-Willi Syndrome (PWS) is the most frequent cause of genetic obesity. It has been described that these patients require a reduction in caloric intake of 20- 40% compared to general population. Since 2000, with the approval of growth hormone (GH), the evolution of obesity has changed and it seems that caloric requirements could be different.Methodology: Observational, descriptive, cross-sectional and re...

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

Introduction: Diabetes insipidus (DI) is a rare disease in children. In most cases it is acquired and central in origin (CDI). The most frequent cause of acquired CDI is brain tumor and idiopathic forms represent between 20-50% of cases, depending on the series. Autoimmune hypophysitis is a rare cause of DI and is a presumptive diagnosis with a suggestive brain MRI and ACTH and TSH deficiencies as the most common hormonal involvement, although it can manifest ...

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

Background: Following the intense debates and controversies regarding all forms of genital surgeries on minors, particularly the appropriateness of clitoral surgeries, assessing all outcomes of clitoromegaly management is imperative in directing future management.Methods: As part of a broader qualitative interview study involving 25 parents of patients with confirmed cases of clitoromegaly due to congenital adrenal hyper...

Background: Turmeric is a popular ingredient in the cuisine of many Asian countries. It is also known for its use in Chinese and Ayurvedic medicine. It comes from the root of the Curcuma longa. Turmeric is rich in curcuminoids, including curcumin, demethoxycurcumin, and bisdemethoxycurcumin. Curcumin has potent anti-inflammatory and anti-carcinogenic activities. Since many anti-cancer drugs target enzymes from the steroidogenic pathway, we tested the bioactivi...

Background: There is currently limited data published on the prevalence of diabetic eye disease in children and young people (CYP) with type 1 diabetes mellitus (T1DM), yet diabetic retinopathy remains one of the commonest causes of blindness in young adults.Objectives: To determine the risk and prevalence of diabetic retinopathy and to evaluate the risk factors associated with diabetic retinopathy in CYP with T1DM.Methods: All CYP...

Background: IGF1 is the key effector peptide in the control of normal growth. IGF1 deficiency in the presence of normal GH is associated with growth failure. This may be caused by primary defects in the GH-IGF1 axis or by conditions such as malnutrition or chronic inflammation. Severe primary IGF1 deficiency (height <−3 S.D., serum IGF1 <2.5th centile, GH normal) is an European Medicines Agency (EMA) licensed indication for rhIGF1 therapy. We repor...

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...