hrp0086fc7.3 | Gonads & DSD | ESPE2016

Estrogen Insensitivity due to a Novel ESR1 Mutation in a Consanguineous Family from Algeria

Kherra Sakina , Ladjouze Asmahane , Bernard Valerie , Anane Tahar , Laraba Abdenour , Christin-Maitre Sophie

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

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...

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 ...

hrp0089p3-p005 | Adrenals and HPA Axis P3 | ESPE2018

Age at Diagnosis and Outcome in Maghreb patients with 21-hydroxylase Deficient Congenital Adrenal Hyperplasia; Urgent need for Newborn Screening

Ladjouze Asmahane , Yala Imane , Yahiaoui Manel , Zerguini Dounia , Tardy Veronique , Mohammedi Kahina , Taleb Ourida N , Kerkouche Soraya , Berkouk Karima , Bensmina Manoubia , Maoudj Abdeljlil , Aboura Rawda , Anane Tahar , Morel Yves , Bouzerar Zahir

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...