hrp0082p3-d3-943 | Puberty and Neuroendocrinology (1) | ESPE2014

Triptorelin Test in the Diagnosis of Precocious Puberty

Kabour Saida , Fedala Soumeya , Yaker Fetta Amel , Haddam Ali el Mahdi , Rabhi Lila , Chentli Farida , Meskine Djamila

Background: Central precocious puberty (CPP) in girls is characterized by an activation of the hypothalamic┬ľpituitary┬ľovarian (HPO) axis before 8 years of age. Given the gradual awakening of the GnRH pulse generator, a spectrum of presentations has been found among girls with premature sexual development. CPP are not easily distinguished from idiopathic precocious thelarche (PT) or other intermediate positions along this spectrum. The GnRH test is the gold standard t...

hrp0089p3-p288 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Bilateral Optic Nerve Hypoplasia Revealing Septo Optic Dysplasia or De Morsier Syndrome: A Case Report

Yamina Aribi , Meriem Bensaleh , Lila Brakni , Zoubir Sellal , Aicha Lachkhem , Samia Ouldkablia

Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 year...

hrp0086p2-p386 | Gonads & 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 ...

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...