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...

hrp0092p2-161 | GH and IGFs | ESPE2019

The Influence of Pituitary MRI Findings on Clinical Presentation and Growth in GH-Treated Children with Congenital Hypopituitarism

Adel Djermane , Asmahane Ladjouze , Yasmine Ouarezki , Kahina Mohamedi , Hassina Benlarbi , Samira Aggoune , Zahir Bouzrar , Hachemi Maouche

Introduction: MRI imaging is the technique of choice in the diagnosis of children with hypopituitarism. Marked differences in MRI pituitary gland morphology suggest different etiologies of GHD, different clinical and endocrine outcome and different prognoses.Objective: To investigate the auxological, clinical and hypothalamic pituitary-MRI features in children with non-acquired growth hormone deficiency (GHD); and determ...

hrp0089p2-p188 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Diazoxide Unresponsive Congenital Hyperinsulinism due to a Novel ABCC8 Missense Mutation

Ouarezki Yasmine , Ladjouze Asmahane , Djermane Adel , Houghton Jayne , Maouche Hachemi , Bouzerar Zohir , Tayebi Youcef

Background: Congenital hyperinsulinism is a frequent cause of persistent hypoglycaemia in neonates. Mutations of the KATP channel subunit are the most common molecular defects. We report here a novel ABCC8 gene mutation causing a severe form of CHI in a newborn.Case report: A 10-day-old boy born to consanguineous parents was referred for persistent hypoglycaemia. He was born by normal vaginal delivery at 38 weeks gestation, birth weight was 4....

hrp0092p1-292 | Thyroid (1) | ESPE2019

Outcome of Congenital Hypothyroidism in Algeria: The Urgent Need to Implement a National Newborn Screening Program

Adel Djermane , Asmahane Ladjouze , Yasmine Ouarezki , Ourida Taleb Nessma , Kafia Zichi , Samira Aggoune , Bouzerar Zahir , Hachemi Maouche

Background: Congenital hypothyroidism (CH) is the commonest congenital endocrine disorder and the primary cause of treatable mental retardation. In low-income countries lacking newborn screening programs, CH remains a serious public health problem.Objective: To investigate the characteristics at diagnosis and clinical outcome of patients with CH in Algeria; and determine factors related to psychomotor development.<p ...

hrp0092p3-113 | Fat, Metabolism and Obesity | ESPE2019

Severe Hypernatremia Revealing A Rohhad-Net Syndrome

Ouarezki MEDICAL/HEALTH , Bouferoua Fadila , Djermane Adel , Boucenna Hamza , Boukhedouma Nabila , El-Mokhtar Mohamed , Maouche Hachemi , Benhalla Nafissa , Tayebi Youcef

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...

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...

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 ...