Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series

Area of Science:

• Endocrinology
• Neurology
• Genetics

Background:

• X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder impacting the nervous system and adrenal glands.
• Adrenomyeloneuropathy (AMN) is the most common X-ALD phenotype, but adrenal insufficiency is often the initial sign in males.

Purpose of the Study:

• To detail the clinical and biochemical characteristics of X-ALD patients.
• To analyze the clinical progression, focusing on endocrine dysfunction.

Main Methods:

• Retrospective analysis of 10 male X-ALD patients.
• Evaluation of epidemiological data, phenotype, endocrine/neurological findings, and family history.

Main Results:

• All patients had adrenal insufficiency; 40% presented in adulthood (mean age 19.6 years).
• Mineralocorticoid deficiency occurred in 60%. Initial phenotypes were Addison-only (80%) or AMN (20%).
• AMN developed in 4 patients years after diagnosis; cerebral forms appeared in 2 patients.

Conclusions:

• X-ALD presentation is diverse, with adult-onset adrenal insufficiency and variable neurological progression.
• Similarities in clinical course were observed within some families.
• Screening for X-ALD in cases of adrenal insufficiency is crucial, necessitating collaboration between endocrinologists and neurologists.