Abstract：
X-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.
摘要：
X连锁肾上腺脑白质营养不良（X-ALD）是一种过氧化物酶体疾病，由ATP结合盒亚家族D成员1（ABCD1）基因的变异引起。这项研究首次报道了X-ALD患者的中央性早熟（CPP）。一个6岁的男孩表现出皮肤粘膜色素沉着,血浆促肾上腺皮质激素水平升高，和升高的超长链脂肪酸（VLCFA）。我们确定了一个变种,c.1826A>G（p。Glu609Gly),在先证者ABCD1基因的外显子8中。此外,他表现出快速增长，睾丸体积5-6毫升，阴毛的发作，黄体生成素（LH）的青春期水平，均符合CPP诊断标准。
