ESPE Abstracts

Background: Graves' disease is a rare autoimmune disorder in children. Its incidence is 0.1/100,000 person-years in young children and 3/100,000 person-years in adolescents. It is related to the production of TSH-stimulating autoantibodies occurring on a particular genetic predisposition. The particularity of Graves' disease in children is the risk of relapse after medical treatment, which is more frequent than in adults with a frequency of around 30...

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...

Context: The outcome of a treatment depends largely on the observance and compliance of the patient. Studies analyzing therapeutic compliance in chronic endocrine diseases are rare and especially controversial in childhood. Studies have reported poor adherence in 6-50% of cases.Patients and Methods: We studied treatment compliance in 100 children treated with subcutaneous growth hormone for growth hormone deficiency, int...

Background: Analysis of insulin-like growth factor-I (IGF-I) is an important tool in the diagnosis of growth hormone deficiency. However, there are significant differences between IGF-I assays and normative data sets, which may have important clinical implications. The aim of this study was to investigate the difference in Z-scores between the iSYS-IDS reference values and the reference values for the IGF-I specific assay used in children.<p class="abstext...

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

Introduction: The transition period between childhood and adulthood in patients with growth hormone deficiency is a vulnerable period during the follow-up. Different consensuses have established follow-up and reassessment protocols for this period in order to clarify whether GHD persists. The benefits of maintaining treatment during this period are widely documented on the metabolic, vascular, bone and in terms of quality of life and well-being.<p class="a...

Introduction: The diagnosis of growth hormone deficiency (GHD) in childhood is challenging, because of the lack of a true gold standard and the relatively poor performance of available diagnostic testing. Many young children undergo unnecessary growth hormone stimulation tests (GHST).Objective: The aimof this study was to design and validate a predictive Score to diagnose children with GHD....

Screening for congenital adrenal hyperplasia through the measurement of 17-hydroxyprogesterone on the neonatal blood spot, aims to: prevent neonatal deaths; allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and to shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in most high-income countries, although the positive predictive value of the test is very low...

Introduction: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disease caused by the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2 q13.1, comprising multiple cognitive, behavioral and endocrine abnormalities. The estimated birth prevalence of PWS is approximately 1/15,000 - 25,000 live birthsObjective: The aimof this study was to identify clinical features and endocrine...

Introduction: Several predictive factors of response to rGH have already been described in the literature such as age and height at the beginning of treatment, rGH dose and parental height status. However, few data exist on the predictive value of pre-therapeutic data on the response to rGH.The main objective of the study: is to identify predictive factors of the rGH response in children with GHD, with a particular inter...