ESPE Abstracts

Background: Adrenal insufficiency (AI) is mainly due to congenital disorders in children. Acquired causes can be autoimmune, inflammatory, infectious but mainly drug induced especially due to prolonged exposure to excess glucocorticoids. Daily dose, duration, timing, as well as the route of administration can all play a role in. We present two patients with different clinical presentations.Case 1: A 8 year- old-girl refe...

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: 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...

Introduction: Short stature is the one of the most common referral to paediatric endocrine clinic. Analysis of growth charts is a non-invasive tool and should allow differentiation between normal and abnormal growth. The aimof thid study is to compare the accuracy of Algerian growth charts (DZ-charts) with WHO growth charts in identifying short stature.Method: Measurement of children and adolescents aged from 6 to 14 yea...

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 ...

Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he s...

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....

Background: Diabetic neuropathic cachexia is a rare syndrome of acute neuropathic pain and profound weight loss. Mauriac syndrome has rarely been reported in children and adolescents with a poorly controlled diabetes mellitus type 1. Common presenting features include short stature, growth retardation, moon facies, protuberant abdomen, and proximal muscle wasting. We report the first case of the association of Mauriac Syndrome and Diabetic neuropathic cachexia...

Introduction: 21-hydroxylase deficiency (21-OHD) is the most common cause of female virilisation at birth and carries heavy psychosocial consequences. Early antenatal treatment with dexamethasone is successful in avoiding severe virilisation, thus reducing the need for surgery and improving psychological outcome.Objectives: To evaluate the feasibility and effectiveness of antenatal treatment in 21-OHD in a resource-limit...