Endocrine Abstracts

Introduction: X-linked adrenoleucodystrophy (XALD) is a progressive disorder affecting adrenal glands, testis, and myelin stability, that normally caused by mutations in ABCD1 (NM_000033) gene There is a failure of β-oxidation of fatty acids within peroxisomes due to reduced activity of very long chain acyl-CoA synthetase and can be diagnosed by the demonstration of elevated very long chain fatty acid.

Case report: We report a case of a 32-year-old gentleman who was initially presented with low mood, erectile dysfunction, urinary incontinence, spastic paraparesis, and infertility. His brother now deceased had a diagnosis of early onset X-linked adrenomyeloneuropathy and hypogonadism. His mother also had a history of weakness in the leg but not sought a formal neurological diagnosis. He was noted to haveproximal muscle weakness and had a bilateral extensor planter response on examination. Investigations showed a normal LH, FSH, and testosterone. His 0900 h cortisol was 520 nmol/l and an ACTH was 31 ngm/l (normal range). In view of his strong family history a presumptive diagnosis of adrenoleucodystrophy was made. His very long chain fatty acid (VLCFA c26 was 4.18 μmol/l). Genetic test showed an abnormal mutation on ABCD1 gene. He was treated by the urology team for his erectile dysfunction. Although, his neurological condition remain stable his tiredness was progressively worsen next 6 months. A further short Synacthen test showed a basal cortisol of 273 nmol/l and 30 min post Synacthan the cortisol was recorded 310 nmol/l. He had negative adrenal antibody. A diagnosis of adrenal insufficiency secondary to adrenoleucodystrophy was made. He was started on hydrocortisone and his symptoms improved rapidly.

Conclusion: Adrenal insufficiency can be presented in various forms and young patient with family history and neurological symptoms, adenoleucodystrophy should be considered as a possible diagnosis.