ESPE Abstracts

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: Radiation induced growth hormone deficiency (GHD) is one of several important factors in the aetiology of short stature complicating the treatment of brain tumours in childhood. If such a child is clinically well,shows a poor growth rate and biochemical evidence of GH deficiency,then a 1 year trial of GH is justified.The aim of this study is to evaluate growth and assessed Pituitary function (GH deficiency) in children who ...

Abstract: The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general population, and screening has been recommended in asymptomatic individuals known to have an increased risk of developing the disease. In light of this recommendation, the aim of the study was to assess prevalence of celiac disease in Turner syndrome.Patients and methods: Serological screening of coeliac disease were performed in 85 children and adoles...

Introduction: Pituitary tumors are rare in children and adolescents. The etiology is dominated by craniopharyngiomas. The main clinical presentation is the tumoral syndrome. These lesions often affect growth and pubertal development. The objective of our work is to study the clinical and etiological characteristics of pituitary tumors in the pediatric population.Materials and Methods: This is a retrospective descriptive study involving 0...

Introduction: Differenciated thyroid cancer (DTC) is a rare disease in children and adolescents, it concerns approximatively 1.4% of all pediatric malignancies. Papillary thyroid carcinoma (PTC) is the most common subtype of DTC in pediatric as well as in adult with necessity of radio iodine therapy after surgery.Aim: The aim of our study is to evaluate follow up after iodine therapy in childhood patients treated for...

Keywords: Short stature, Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome, genetic syndromesIntroduction: Short stature is one of the major components of dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. At present, GH therapy is used in most syndromic disorders, al...

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...

Case presentation: We report the case of Imad, a 2-year- old Algerian boy referred with a 2-month history of polyuria and polydipsia. Diabetes insipidus was diagnosed by confirming hypernatremia with hyperosmolar serum and inappropriately dilute urine. His polyuria and polydipsia improved dramatically using the oral vasopressin analog. The child had no clinical signs of underlying disease, serum tumor markers were not detected and a skeletal survey suggested n...

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...