hrp0094p2-46 | Adrenals and HPA Axis | ESPE2021

X-linked Adrenoleukodystrophy in south of Tunisia

Kmiha Sana , Bouzidi Nihed , Rania Khalfallah , Maaloul Ines , Chabchoub Imen , Aloulou Hajer , Kammoun Hassen , Kammoun Thouraya ,

Introduction: Adrenoleukodystrophy (ALD) is a rare X- linked disease caused by a mutation of the peroxisomal ABCD1gene. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, axonal demyelination and the accumulation of high levels of very long chain fatty acids (VLCFA) in the plasma and tissues.Methods: ItÂ’s a retrospective study of all cases of X-linked ALD who...

hrp0092p3-25 | Adrenals and HPA Axis | ESPE2019

Unusual Association: Allgrove Syndrome and Hypopituitarism

Safi Wajdi , Hadj Kacem Faten , Gargouri Imene , Saafi Wiem , Rekik Nabila , Charfi Nadia , Hachicha Moungia , Kammoun Thouraya , Mnif Feki Mouna , Kammoun Hassen , Abid Mohamed

Introduction: Allgrove syndrome is a genetic disorder of autosomal recessive inheritance associating in its complete form: Esophageal achalasia; alacrymia and adrenal insufficiency. This is generally an adreno-corticotropic hormone (ACTH) resistant. In this context we report the case of a patient followed in the endocrinology department.Case: This is the case of a boy who comes from a consanguineous marriage, with family...