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Course: Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype

CME Credits: 1.00

Released: 2024-03-04

A 12-year-old boy with a family history of X-linked adrenal leukodystrophy (X-ALD) was identified as a proband (III 1; Figure, A) and did not exhibit abnormal vital signs, cognitive function, hearing, vision, or muscle strength. His very long-chain fatty acids (VLCFAs) were moderately elevated. Cranial magnetic resonance imaging revealed no abnormalities in the brain. However, his 8-year-old younger brother (III 2; Figure, A), whose VLCFAs were significantly elevated, developed typical X-ALD symptoms within a month, including auditory dysfunction, deteriorating vision, ataxia, language impairments, and progressive leukodystrophy. Cranial magnetic resonance imaging of his brother showed significant symmetrical T1-weighted low signal and T2-weighted high signal around the posterior horns of both lateral ventricles, suggesting widespread white matter demyelinating lesions (Figure, B). The proband showed apparent chimerism of an ABCD1 mutation (c.521A>G; p. Tyr174Cys) in the whole-exome sequencing and his chromosomal karyotyping showed 47, XXY, confirming the diagnosis of Klinefelter syndrome and explaining the presence of both wild-type and mutated ABCD1. Results of further laboratory assessments, including 25-hydroxyvitamin D, adrenocorticotropic hormone, plasma cortisol, standing renin activity, standing angiotensin II, standing plasma aldosterone, follicle-stimulating hormone, luteinizing hormone, estradiol, progesterone, testosterone, and prolactin, were within the normal range.


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