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...

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...

Introduction: McCune-Albright Syndrome (OMIM #174800) is a mosaic disorder, characterized by “café-au-lait” spots, fibrous dysplasia, and autonomous hyper function of one or more endocrine organs, within the peripheral precocious puberty remains the most common manifestation. This disease is caused by GNAS gene activating mutations.Objective: To describe clinical and endocrine characteristics in ten pa...

Introduction: Obesity constitutes a risk factor for several early-onset metabolic disorders. The problem is escalating in Africa, where the number of obese or overweight children and adolescents has increased byalmost 50% since 2000 according to World Health Organisation (WHO) data).Objectives: To determine the lipid and glucose profiles in Algerianchildren adolescents with obesity, defined as body mass index (BMI) &...

Background: Congenital hyperinsulinism is a frequent cause of persistent hypoglycaemia in neonates. Mutations of the KATP channel subunit are the most common molecular defects. We report here a novel ABCC8 gene mutation causing a severe form of CHI in a newborn.Case report: A 10-day-old boy born to consanguineous parents was referred for persistent hypoglycaemia. He was born by normal vaginal delivery at 38 weeks gestation, birth weight was 4....

Background: Congenital hypothyroidism (CH) is the commonest congenital endocrine disorder and the primary cause of treatable mental retardation. In low-income countries lacking newborn screening programs, CH remains a serious public health problem.Objective: To investigate the characteristics at diagnosis and clinical outcome of patients with CH in Algeria; and determine factors related to psychomotor development.<p ...

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...

Introduction: MRI imaging is the technique of choice in the diagnosis of children with hypopituitarism. Marked differences in MRI pituitary gland morphology suggest different etiologies of GHD, different clinical and endocrine outcome and different prognoses.Objective: To investigate the auxological, clinical and hypothalamic pituitary-MRI features in children with non-acquired growth hormone deficiency (GHD); and determ...