Isolated Leydig cell dysfunction in adrenoleukodystrophy: Rarely reported

ABSTRACT X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurodegenerative, peroxisomal metabolic disorder involving mainly the nervous system, the adrenal cortex, and the testis. It is a frequent but under-appreciated cause of primary adrenocortical insufficiency and primary hypogonadism, caused by pathogenic mutations in the ATP-binding cassette transporter D1 (ABCD1) gene. It consists of three major clinical syndromes: slowly progressive adrenomyeloneuropathy (AMN), rapidly progressive inflammatory adrenoleukodystrophy (cerebral ALD), and isolated primary adrenal insufficiency (PAI). Among these phenotypes, cerebral ALD typically develops in early childhood with significant white matter involvement and a rapidly declining cognitive and neurological function. On the contrary, AMN primarily affects young adults with typical focal symptoms of peripheral nerve and the involvement of the spinal cord. Here, we are reporting a case of ALD with the clinical phenotype of AMN presented with PAI, myelopathy, peripheral motor neuropathy, and primary hypogonadism.