Iyengar Jennifer J, Quinonez Shane C, Razumilava Nataliya, Soyster Barbara, Smith Yolanda R, Vander Lugt Mark T, Wyckoff Jennifer
AACE Clin Case Rep. 2018 Nov 1;5(2):e154-e158. doi: 10.4158/ACCR-2018-0291. eCollection 2019 Mar-Apr.
DNA ligase IV syndrome is a rare genetic disorder characterized by pronounced radiosensitivity, growth failure, pancytopenia, hypogonadism, and immunodeficiency. Here, we describe a unique case of DNA ligase IV syndrome diagnosed in adulthood and review the endocrine manifestations of this rare disorder.
We present detailed clinical, laboratory, and exam findings and review the relevant literature.
This patient initially presented in childhood with microcephaly, growth failure, and mild pancytopenia. At age 18, she developed secondary amenorrhea, with labs revealing hypergonadotropic hypogonadism. She was initially suspected to have Turner syndrome, but karyotype testing was normal. At age 34, genetic testing ultimately confirmed the diagnosis of DNA ligase IV syndrome.
Severe growth failure and hypogonadism are important endocrine clues to the diagnosis of DNA ligase IV syndrome. The increased availability of genetic testing and whole-exome sequencing may allow for definitive diagnosis in patients that previously went unrecognized.
DNA连接酶IV综合征是一种罕见的遗传性疾病，其特征为显著的放射敏感性、生长发育迟缓、全血细胞减少、性腺功能减退和免疫缺陷。在此，我们描述一例成年期诊断的DNA连接酶IV综合征的独特病例，并回顾这种罕见疾病的内分泌表现。
我们展示详细的临床、实验室和检查结果，并回顾相关文献。
该患者童年时最初表现为小头畸形、生长发育迟缓及轻度全血细胞减少。18岁时，她出现继发性闭经，实验室检查显示高促性腺激素性性腺功能减退。她最初被怀疑患有特纳综合征，但核型检测正常。34岁时，基因检测最终确诊为DNA连接酶IV综合征。
严重的生长发育迟缓和性腺功能减退是诊断DNA连接酶IV综合征的重要内分泌线索。基因检测和全外显子测序的可及性增加，可能使之前未被识别的患者得到明确诊断。
