hrp0086p2-p944 | Thyroid P2 | ESPE2016

Age at Diagnosis and Mental Development in Children with Congenital Hypothyroidism in the Absence of Newborn Screening Programme

Ouarezki Yasmine , Ladjouze Asmahane , Kherra Sakina , Djermane Adel , Laraba Abdennour

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...

hrp0082p3-d3-869 | Growth (4) | ESPE2014

Genotype–Phenotype Correlation in Turner Syndrome

Djermane Adel , Ladjouze Asmahane , Ouarezki Yasmine , Ait-Abdelkader Belaid , Kedji Leila , Maoudj Abdeljalil , Berkouk Karima , Griene Lakhder , Laraba Abdennour

Background: Short stature and gonadal dysgenesis are the two characteristic clinical features of Turner syndrome (TS), but multiple systems may be affected.Aims: To evaluate TS prevalence in girls presenting with short stature; and to establish a correlation between karyotype and associated features.Subjects and methods: Retrospective study of all patients diagnosed with TS (December 2007–March 2013).Res...

hrp0082p2-d1-293 | Bone | ESPE2014

A Very Rare Case of Rickets: Fanconi–Bickel Syndrome

Djermane Adel , Ladjouze Asmahane , Ouarezki Yasmine , Vuillaumier-Barrot Sandrine , Khodja Benfetima Ali , Kedji Leila , Maoudj Abdeljalil , Berkouk Karima , Bensmina Menoubia , Anane Tahar , Laraba Abdennour

Background: Fanconi–Bickel syndrome (FBS) is a rare glycogen storage disease characterized by hepato-renal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. We present the case histories of two sisters who were diagnosed with FBS.Case reports: The proband, Lina, was referred to our clinic for growth retardation and abdominal distention aged 27 months. She is the 4th child of consanguineous parents...

hrp0084p2-176 | Adrenals | ESPE2015

Triple A Syndrome – the Second Most Common Cause of Chronic Adrenal Insufficiency in North Africa?

Mohammedi Kahina , Ladjouze Asmahane , Tebaibia Ammar , Kedji Leila , Maoudj Abdelmajid , Berkouk Karima , Bensmina Manoubia , Amoura Souhila , Boudjella Mohamed El Amine , Laraba Abdennour

Background: Triple A syndrome (AAAS, OMIM#231550) is a very rare inherited disease characterized by the association of chronic adrenal insufficiency, achalasia, alacrima and central and peripheral neurological disorders. It is caused by mutations in the AAAS gene which encodes the nuclear pore complex scaffolding protein ALADIN. The relative prevalence and genotype of AAAS in the Maghreb countries has not been ascertained.Objective and hypotheses: To est...