hrp0094p2-28 | Adrenals and HPA Axis | ESPE2021

An Adolescent Case With Adrenoleukodystrophy Diagnosed After Detection Of Leydig Cell Dysfunction

Okur Iclal , Cetinkaya Semra , Elmaogullari Selin , Kilic Mustafa , Yuksel Deniz , Emine Derinkuyu Betul , Karacan-Kucukali Gulin , Sakar Merve , Guleray-Lafci Naz , Savas-Erdeve Senay ,

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...