hrp0098p2-325 | Late Breaking | ESPE2024

A novel mutation of CGK gene in patient with Diazoxide responsive congenital hyperinsulinism

Kherra Sakina , Ouarezki Yasmine , Bellouti Sihem , Sahli Hassiba , Sifour Latifa , Zeroual Zoulikha , Flanagan Sarah

Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by excessive and inadequate insulin secretion from the pancreatic beta cells. Age at first symptoms and severity are usually correlated with the molecular mechanism, late diagnosis or even misdiagnosis are frequently seen. A genetic cause can be identified in only 50% of cases, potassium channel mutations are the most common mutations causing severe forms. Glucokinase mutation (GCK)...

hrp0092t8 | Top 20 Poster | ESPE2019

Bone Mineral Density (BMD) in Women with Turner Syndrome (TS) from the DSD-LIFE Cohort, an Epidemiological Study

Pienkowski Catherine , El Allali Yasmine , Cartault Audrey , Ernoult Perrine , Grunenwald Solange , Reish Nicole , Claahsen-Van Hedi , Salles Jean-Pierre

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

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 ...

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...

hrp0098p2-355 | Late Breaking | ESPE2024

A new score for the diagnosis of Growth hormone deficiency in prepubertal children

Djermane Adel , Ouarezki Yasmine , Kherra Sakina , Mohammedi Kahina , Boulesnane Kamelia , Bensalah Meriem , Ladjouze Asmahane , Ait Abdelkader Belaid , Maouche Hachemi

Introduction: The diagnosis of growth hormone deficiency (GHD) in childhood is challenging, because of the lack of a true gold standard and the relatively poor performance of available diagnostic testing. Many young children undergo unnecessary growth hormone stimulation tests (GHST).Objective: The aimof this study was to design and validate a predictive Score to diagnose children with GHD....

hrp0086p2-p386 | Gonads &amp; DSD P2 | ESPE2016

High Prevalence of SGA in Patients with Disorders of Sexual Development, Especially Idiopathic 46,XY DSD

Ladjouze Asmahane , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bensmina Manoubia , Aboura Rawda , Ouarezki Yasmine , Philibert Pascal , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.<p ...

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 ...