ESPE Abstracts

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...

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: The outcome of congenital hypothyroidism (CH) has dramatically changed since the start of neonatal screening. However the benefit of this program is not felt in Algeria and other countries where the pathology is still causing irreparable brain damage.Objective and hypotheses: To evaluate age at diagnosis of CH and its impact on the mental development in the absence of new-born screening.Method: Case notes of all patient...

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: 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...

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: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

Background: Steroid 11-β hydroxylase deficiency is the second most frequent cause of adrenal hyperplasia (CAH) with autosomal recessive inheritance. Girls have importantly virilized external genitalia at birth, and boys display precocious pseudopuberty. Unlike others enzymatic deficiency involved in CAH, there is no salt wasting during infancy but patients develop hypertension. Because of more than 90% of homologous sequence between CYP11B1 gene ...