A patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report

被引：1

作者：

Zhu, Ting Ting ^{[1
,2
]}

Wu, Jin ^{[1
,2
]}

Sun, Xiao Mei ^{[1
,2
]}

机构：

[1] Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu, Peoples R China

[2] Sichuan Univ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Defe, Minist Educ, Chengdu, Sichuan, Peoples R China

来源：

ENDOCRINE | 2024年 / 83卷 / 02期

关键词：

X-ALD; ALDP; VLCFAs; CPP; PROTEIN; WOMEN;

D O I：

10.1007/s12020-023-03562-w

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：353 / 356

页数：4

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