ESPE Abstracts

Background: In the absence of a national screening program for congenital adrenal hyperplasia (CAH), children are often diagnosed late, when unwell with salt-wasting crisis or hypoglycemic symptoms. In 21-hydroxylase deficient CAH (21OHD-CAH), girls usually present with a disorder of sex development (DSD) and are thus diagnosed earlier than boys who present with salt-wasting.Aim: To investigate the global intelligence of...

Background: StAR deficiency is a rare cause of primary adrenal insufficiency (PAI), with fewer than 100 cases reported worldwide. The first patients to be described suffered from severe forms of lipoid adrenal hyperplasia leading to severe undervirilization in 46,XY foetuses. More recently, however, less severe forms, known as "non-classical" or "atypical lipoid adrenal hyperplasia", presenting with PAI with salt wasting (SW) syndrome and norma...

Introduction: Congenital hypomagnesaemia is a rare autosomal recessive disease presenting with convulsions in the newborn period. Early diagnosis and treatment are required if neurodevelopmental delay is to be prevented.Materials and Methods: Retrospective study of patients with congenital hypomagnesemia followed in our department.Objective: To document the clinical presentation, d...

Background: Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 (gene encoding 11β-hydroxylase), is a rare autosomal recessive disorder due to an impairment of the last steroidogenesis step. Consequences are a decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors responsible of hyperandrogenism and hypertension. It is the second most frequent cause of CAH after 21-Hydroxylase de...

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...

Turner syndrome (TS) is the most common genetic disorder occurring in 1 / 2500 live-borne girls. It’s characterized by complete or partial loos of one X chromosome associated with short stature and premature ovarian failure. Morbimortality are increased in TS and related to cardiovascular (CV) disease. The aim of this study was to investigate the karyotypes and the phenotypes of a paediatric population with Turner Syndrome.Methods:...

Background: Triple A syndrome (AAAS, OMIM#231550) is a very rare inherited disease characterized by the association of chronic adrenal insufficiency, achalasia, alacrima and central and peripheral neurological disorders. It is caused by mutations in the AAAS gene which encodes the nuclear pore complex scaffolding protein ALADIN. The relative prevalence and genotype of AAAS in the Maghreb countries has not been ascertained.Objecti...