hrp0082p2-d1-567 | Sex Development | ESPE2014

A New Mutation of MAMLD1 (CXorf6) Associated with NR5A1 (SF1) Variant in a Patient with 46,XY DSD

Ladjouze Asmahane , Philibert Pascal , Ouarezki Yasmine , Djermane Adel , Kedji Leila , Maoudj Abdeljalil , Berkouk Karima , Sultan Charles , Laraba Abdenour

Background: The investigation of patients with 46,XY DSD is often difficult, with no definitive diagnosis in more than 50% of cases investigated. We describe a new mutation of MAMLD1 in a patient with 46,XY DSD who also showed an alteration in the NR5A1 gene.Case report: A 5-year-old boy was referred to our clinic for DSD. He was born to non-consanguineous parents and was diagnosed with ambiguous genitalia at birth but had not been previously investigate...

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...

hrp0084p2-313 | DSD | ESPE2015

A Novel Human CYP19A1 Deletion-Insertion Mutation Reveals that the C-terminus of the Aromatase Protein is Crucial for its Activity

Ladjouze Asmahane , Sauter Kay-Sarah , Ouarezki Yasmine , Kedji Leila , Laraba Abdenour , Pandey Amit V , Fluck Christa E

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

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...

hrp0082p2-d2-547 | Puberty and Neuroendocrinology (1) | ESPE2014

The Triptorelin Test Compares Favourably with the GnRH Test in the Diagnosis of Central Precocious Puberty

Ladjouze Asmahane , Djermane Adel , Ouarezki Yasmine , Kedji Leila , Berkouk Karima , Abdeljalil Maoudj , Aboura Rawda , Bensmina Minoubia , Anane Tahar , Bouyoucef Salah Eddine , Laraba Abdenour

Background: The i.v. GnRH test remains the gold standard for the diagnosis of central precocious puberty (CPP). Unfortunately however, GnRH is expensive and is not available worldwide. GnRH analogues have been used as an alternative, but their place is not established, while very few studies have compared between the two tests.Objective: To compare the effects of GnRH and Triptorelin on gonadotrophin secretion in patients with sexual precocity and hence ...

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...