ESPE Abstracts

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...

Introduction: Thyroid ophthalmopathy, also known as Graves ophthalmopathy, is an autoimmune condition that can affect the orbital and periorbital tissue. Antibodies stimulating the TSH receptor (TRAb) are thought to be involved in the pathogenesis of this disease. Our report describes a case of Graves’ ophthalmopathy presented solely with symptoms of the eyes with normal thyroid function tests and negative immunoreactive TSH receptor autoantibody.<p ...

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...

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: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

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: Congenital hyperinsulinism (CHI) is a rare disease characterized by excessive and inadequate insulin secretion from the pancreatic beta cells. Age at first symptoms and severity are usually correlated with the molecular mechanism, late diagnosis or even misdiagnosis are frequently seen. A genetic cause can be identified in only 50% of cases, potassium channel mutations are the most common mutations causing severe forms. Glucokinase mutation (GCK)...

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...