Author:
Zhu Ting Ting,Wu Jin,Sun Xiao Mei
Abstract
AbstractX-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by the variations in the ATP-binding cassette sub-family D member 1 (ABCD1) gene. This study is the first to report central precocious puberty (CPP) in individuals with X-ALD. A 6-year-old boy exhibited mucocutaneous pigmentation, increased plasma adrenocorticotropic hormone levels, and elevated very long-chain fatty acids (VLCFA). We identified a variant, c.1826A>G (p. Glu609Gly), in exon 8 of the ABCD1 gene in the proband. Additionally, he displayed rapid growth, testicular volume of 5–6 mL, the onset of pubic hair, and pubertal levels of luteinizing hormone (LH), all meeting the diagnostic criteria for CPP.
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
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