ESPE Abstracts

Background: Obese children are often taller than non-obese ones before puberty. Reports on the GH/IGF system in obese children are not consistent and do not explain the increased height observed. Changes in IGF1 bioavailability/bioactivity have been claimed as a possible explanation, however, no data is available regarding the expression of the IGF type 1 receptor (IGF1R) gene.Objective and hypotheses: To study the expression of IGF1R gene in obese child...

Background: Growth spurt is a major event in central precocious puberty (CPP). GnRH analogue (GnRHa) therapy inhibits gonadal axis and decreases height velocity. However, serum IGF1 and IGFBP-3 remain high as before therapy. Reports on IGF type 1 receptor (IGF1R) in CPP are yet unavailable.Aim: To study IGF1R mRNA expression in girls with CPP before and during GnRHa therapy.Methods: 34 girls with CPP were studied. Sixteen of them (...

Background: The diagnostic use of IGF-1 in children suspected of GHD is based on the assumption that a single determination of this parameter reflects the integrated 24-h GH secretion. IGF-1 levels are low in GHD, but a study found a significantly lower sensitivity in children with organic lesions in the brain.Objective: The aim of this study was to check if there is a statistically significant relation between IGF-1 values in children with GHD with and ...

Background: Pseudohypoaldosteronism type II (PHAII), is a rare renal tubular disease with an autosomal dominant inheritance characterized by hyperkalemic, hyperchloremic acidosis and hyporeninemia. Mutations in WNK4 and WNK1 were found initially. Recently have shown that KLHL3 and CUL3 are also causative genes.Objective and hypotheses: Hypertension, an essential symptom of PHAII, manifest in adolescents and young adults. In the absence of family history ...

Background: Prevalence of childhood obesity (OB) represents a major public health concern, given the tracking of body weight from childhood to adult age and obesity-related morbidity.Objective: To describe prevalence of overweight (OW) and OB in children at 8 years and investigate relationship with metabolic alterations (lipid profile and insulin resistance).Methods: 485 pregnant mothers recruited between 2004-2007 and 409 children...

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

Background: Vitamin D (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective: To evaluate the levels of 25OHD from gestation to 12 years, assessing seasonality and intake.Material and methods: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004-2007 and th...

Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.Method: Retrospective longitudinal study conducted at Hosp...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

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 ...