ESPE Abstracts

Objective: To evaluate clinical features, etiology and evolution of patients with hypothyroidism.Methods: Longitudinal retrospective study of patients diagnosed with hypothyroidism between 2004 and 2019. Study was conducted in the west of Algiers. Age at diagnosis, clinical characteristics and initial dose of treatment were recorded. Patients were classified according to etiology. In congenital hypothyroidism, neurocognitive assessment...

Background: Hyperthyroidism is considered to be rare in children; it’s clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of patients diagnosed with hyperthyroidism.Results: 8 cases were identified between 2006 and 2013: 6F/2M, the patient&...

Introduction: Adrenal insufficiency is relatively rare in childhood and adolescence. Signs and symptoms may be non specific; therefore, the diagnosis may not be suspected early in the course. It may be categorized as primary or secondary and congenital or acquired. Many etiologies have been reported worldwide of which CAH was the commonest etiology in children.Objective and hypotheses: To determine the clinical features and evolution of ...

Introduction: Allgrove syndrome is a rare autosomal recessive disorder involving alacrymia, achalasia, Addison’s disease (3A) and neurological disorders (4A), it results from mutations in the AAAS gene located on chromosome 12q13 which codes for a protein known as ALADIN (ALacryma Achalasia aDrenal Insufficiency Neurologic disorder). Alacrymia is diagnosed by Schirmer’s test, achalasia by esophageal manometry while adrenal insufficiency is confirmed ...

Introduction: The intrauterine growth retardation (IUGR) is defined by weight and/or height below the 10th percentile of reference population curve.Goal: To determine the predictors of small size at the age of 2 yearsMethod: Longitudinal prospective study from 2012 to 2016. We followed the growth in height and weight of children born with IUGR at term up to the age of 2 years.<p class="abstext"...

Background: Growth hormone deficiency (GHD) is defined as a total or partial deficiency in the secretion of growth hormone (GH) by the somatotropic cells of the anterior pituitary. The exact prevalence of this condition is unknown in Algeria. In Europe and USA, it is estimated between 1/4000 and 1/10000. This variation is explained by clinical polymorphism, the limits of pharmacological stimulation tests for GH stimulation, problems in interpreting the diagnos...

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: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

Introduction: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disease caused by the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2 q13.1, comprising multiple cognitive, behavioral and endocrine abnormalities. The estimated birth prevalence of PWS is approximately 1/15,000 - 25,000 live birthsObjective: The aimof this study was to identify clinical features and endocrine...

Background: Graves’ disease (GD) is a rare autoimmune affection in children with a female predominance. Its prevalence is about 0,1/100 000py in children and 3/100 000 py in adolescents and characterized by more important frequency of relapse than adults after medical treatment.Aim: Is to evaluate clinical biological radiological and treatment outcome of children and adolescents affected by GD in nine Algerian hosp...