Isolated Leydig cell dysfunction in adrenoleukodystrophy: Rarely reported
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: IJEM Case Reports
Authors: Sukomal Jana, Rahin Mahata, Rohit Kumar, Rajdip Choudhury, Umakanta Mahapatra, Neeti Agrawal, Partha Pratim Chakraborty, Debjyoti Halder
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4408920150