hrp0094p2-47 | Adrenals and HPA Axis | ESPE2021

Clinical, biological and genetic aspects of congenital adrenal hyperplasia in children at the Central Army Hospital in Algiers

Iabbassen Malek , Bensalah Meryem , Tardy-Guidollet Veronique , Menassa Rita , Morel Yves , Ouldkablia Samia Khadidja ,

Context: Congenital adrenal hyperplasia (CAH) is a rare genetic defect. Its prevalence is estimated at one case per 3,000 births in Algeria and one case per 15,000 births worldwide. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. Molecular defects of CYP21A2 systematically decrease the activity of this enzyme and result in expression of varying severity and phen...

hrp0098p2-266 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Outcome of antenatal treatment in congenital adrenal hyperplasia due to 21 hydroxylase-deficiency in Algeria

Ouarezki Yasmina , Cherfi Nadia , Abbas Wassila , Mimouni Leila , Djermane Adel , Mohammedi Kahina , Tardy Veronique , Menassa Rita , Roucher Florence , Ibsaine Ouardia , Bouzerar Zahir , Maouche Hachemi , Zeggane Houria , Ladjouze Asmahane

Introduction: 21-hydroxylase deficiency (21-OHD) is the most common cause of female virilisation at birth and carries heavy psychosocial consequences. Early antenatal treatment with dexamethasone is successful in avoiding severe virilisation, thus reducing the need for surgery and improving psychological outcome.Objectives: To evaluate the feasibility and effectiveness of antenatal treatment in 21-OHD in a resource-limit...

hrp0094p1-143 | Sex Endocrinology and Gonads B | ESPE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe

Nowotny Hanna F. , Neumann Uta , Tardy-Guidollet Veronique , Ahmed S. Faisal , Baronio Federico , Battelino Tadej , Bertherat Jerome , Blankenstein Oliver , Bonomi Marco , Bouvattier Claire , de la Perriere Aude Brac , Brucker Sara , Cappa Marco , Chanson Philippe , Grinten Hedi L. Claahsen van der , Colao Annamaria , Cools Martine , Davies Justin H. , Gunther Dorr Helmut , Fenske Wiebke K. , Ghigo Ezio , Gravholt Claus H. , Huebner Angela , Husebye Eystein Sverre , Igbokwe Rebecca , Juul Anders , Kiefer Florian W. , Leger Juliane , Menassa Rita , Meyer Gesine , Neocleous Vassos , Phylactou Leonidas A , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Vojtkova Jarmila , Yeste Diego , Lajic Svetlana , Reisch Nicole ,

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...