• Hengzhou Bai, Dingming Li, Yi Zheng, and XiaoHui Jiang.
• Andrology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
• Medicine (Baltimore). 2022 Aug 26; 101 (34): e30350.

Introduction4H leukodystrophy, one of POLR3-related leukodystrophy, is a rare hereditary brain white matter disease caused by the pathogenic biallelic variations in POLR3A, POLR3B, or POLR1C. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy.Patient ConcernsHere, we reported the brother and the sister with new compound heterozygous (c.1615G>T and c.165-167del) with various degrees of phenotypes including dysbasia, myopia, dental abnormal, and hypogonadotropic hypogonadism.DiagnosisThe brother and sister were diagnosed with 4H leukodystrophy.InterventionsGonadotrophins treatment of the brother could significantly improve the development of secondary sexual characteristics and genitalia.OutcomesThis study showed that the same genotype of POLR3B may have variable clinical phenotypes in the brother and sister.ConclusionThe exploration of molecular functions and genetic counseling are crucial for further diagnosis and treatment of POLR3-related leukodystrophy.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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