ESPE Abstracts

Background: Abnormal birth weight, either small- or large for gestational age, has been influenced on long term heath. Previous data demonstrated small for gestational age infants have greater risk for developed obesity and metabolic diseases later in life but little was known in large for gestational age (LGA) babies.Objective: To study the growth pattern of children born large for gestational age from birth until age o...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

Acromelic dysplasia is a rare inherited bone dysplasia with 2 subtypes acromicric and gelophysic dysplasia. The prevalence is estimated <1/1 000 000, This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations characterised by growth drawfism, disproportionate short hands and feet, mild facial abnormalities, and characteristic x ray bones abnormalities. The condition appered to be s...

Keywords: Short stature, Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome, genetic syndromesIntroduction: Short stature is one of the major components of dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. At present, GH therapy is used in most syndromic disorders, al...

(DPG)-plus syndrome is a rare craniofacial anomaly. It usually occurs in combination with other craniofacial defects. The etiology of this condition remains unknown. Survivors to late childhood have either preserved pituitary function or central precious puberty. Idiopathic infantile hypercalcemia (IHH) is another rare condition that predominantly affects infants. The co-occurrence of (DPG)-plus syndrome and IIH has not been reported previously. We will also present a case rep...

Introduction: We refer to precocious puberty when signs of puberty appear early: before the age of 8 in females and before the age of 9.5 in males. The objective of our study is to evaluate the interest of the LHRH test in the exploration of early puberty.Materials and Methods: A retrospective descriptive study including 19 cases who presented with signs of precocious puberty. A clinical and hormonal evaluation was perfo...

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

Background: Growth-and-differentiation factor-15 (GDF15) is a regulator of energy homeostasis, and is used as biomarker of several pathological states.Objectives: To assess longitudinally GDF15 concentrations in a cohort of infants born either appropriate- (AGA, n=70) or small-for-gestational-age (SGA, n=33), the latter known to be at increased risk for central adiposity and metabolic alteration...

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...