hrp0094p2-43 | Adrenals and HPA Axis | ESPE2021

Aetiology and different clinical conditions of primary adrenal insuffiency in a region of North Africa

Bouferoua Fadila , Bouterfas Nabila , Boucenna Hamza , Dahmane Nabila , Mohandoussaid Aida , Boukhedouma Nabila , Sekfali Lynda , Benhalla Nafissa ,

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 ...

hrp0094p2-44 | Adrenals and HPA Axis | ESPE2021

Clinical and evolutionary aspects of Allgrove Syndrome, Algerian experience

Fadila Bouferoua , Nabila Bouterfas , Hamza Boucenna , Sofiane Benmaouche , Aida Mohandoussaid , Nabila Dahmane , Nafissa Benhalla ,

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 ...

hrp0094p2-245 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Predictors of short stature in intrauterine growth retardation in a region of north Africa

Fadila Bouferoua , Hamza Boucenna , Nabila Bouterfas , Aida Mohandoussaid , Lynda Sekfali , Nabila Boukhedouma , Nabila Dahmane , Nafissa Benhalla ,

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"...

hrp0086p2-p401 | Gonads &amp; DSD P2 | ESPE2016

Aetiology of 46,XY DSD in Algeria; Putative Modifier Role of pV89L Polymorphism in the SRD5A2 Gene in Androgen Receptor Mutation-Negative Subjects

Ladjouze Asmahane , Philibert Pascal , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bouhafs Nadjet , Dahmane Nabila , Melzi Souhila , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: 46,XY DSD is a heterogeneous group of pathologies characterized by a wide spectrum of phenotypes and aetiologies. While advances in molecular genetics have permitted discovery of numerous genes implicated in testicular development, the diagnosis still remains uncertain for most patients with 46,XY DSD.Objective: To identify the aetiologies of 46,XY DSD in Algerian patients.Methods: We conducted a multicentre prospective...