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

Ting Ting Zhu; Jin Wu; Xiao Mei Sun

doi:10.1007/s12020-023-03562-w

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

Endocrine. 2024 Feb;83(2):353-356. doi: 10.1007/s12020-023-03562-w. Epub 2023 Oct 16.

Authors

Ting Ting Zhu^{1

2}, Jin Wu^{1

2}, Xiao Mei Sun^{3

4}

Affiliations

¹ Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
² Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
³ Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. sunxiaomei@scu.edu.cn.
⁴ Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China. sunxiaomei@scu.edu.cn.

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.

Keywords: ALDP; CPP; VLCFAs; X-ALD.

Publication types

Case Reports

MeSH terms

ATP-Binding Cassette Transporters / genetics
Adrenoleukodystrophy* / diagnosis
Adrenoleukodystrophy* / genetics
Child
Exons
Family
Fatty Acids
Humans
Male
Puberty, Precocious* / genetics

Substances

ATP-Binding Cassette Transporters
Fatty Acids