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...

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: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.<p ...

Background: The i.v. GnRH test remains the gold standard for the diagnosis of central precocious puberty (CPP). Unfortunately however, GnRH is expensive and is not available worldwide. GnRH analogues have been used as an alternative, but their place is not established, while very few studies have compared between the two tests.Objective: To compare the effects of GnRH and Triptorelin on gonadotrophin secretion in patients with sexual precocity and hence ...

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...

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:...

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...