ESPE Abstracts

Background: GH deficiency (GHD) diagnosis includes clinical manifestations, laboratory tests and imaging. There are controversies about the validity of the GH stimulation test. A variety of stimulation tests are used in clinical practice. The biochemical definition of GHD has generally been considered to be a peak stimulated GH concentration <10 ng/ml.Objective: The aim of this study was to check if there is a statistically significant relation betwe...

Background: The Fanconi syndrome (FS) and GH deficiency (GHD) is a rare association. The FS is a dysfunction in the proximal tubule that can be idiopathic or primary. This dysfunction leads to renal loss of bicarbonate, phosphate, glucose, potassium and amino acids. One of the clinical feature is a delay in body growth. The correction of acidosis can protect the loss of growth. According to the prevalence of idiopathic GHD, it would be expected that 1 in 4 000 patients and, wi...

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

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...

Early puberty is associated with obesity in young girls and has physical, psychosocial, and reproductive implications. In adults and children, MRI evidence of cellular inflammation in the mediobasal hypothalamus (MBH gliosis) is seen in obesity, and its anatomic location overlaps with key neuronal populations controlling reproduction, fertility, and feeding. We sought to assess whether MRI evidence of MBH gliosis associates with pubertal development in girls and if that differ...

Background: The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis, but how NKB system exerts its effects on the central neuroendocrine control of hum...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

Objectives: The etiopathogenetic of childhood obesity is related to genetic and environmental factors: not only caloric intake or physical activity have an important influence, but also circadian rhythms, including healthy sleep.The objectives of this study were: a) to analyze the different patterns and duration of sleep, eating habits, meal schedules, time dedicated to exercise and screens of obesity children; b) to evaluate its possibl...

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...