PDF(Pubmed)
Abstract：
Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. With the aid of high-throughput sequencing technology, the GLI2 gene c.527A>G (p.Tyr176Cys) heterozygous mutation in the child was identified. No published works have yet described this mutation site. We described Culler-Jones syndrome in a child at length. We recommend that Culler-Jones syndrome be taken into account when considering the spectrum of disorders associated with abnormal growth and development in children. Once diagnosed, individualized hormone replacement treatment is required for each patient.
摘要：
Culler-Jones综合征是一种罕见的临床现象，表现多样，易误诊。我们报告了一名患者，该患者有10年的嗅觉缺失史和1年的附睾疼痛史。最初怀疑Kallmann综合征。他的实验室测试结果,成像,和基因检测,然而,结合提供Culler-Jones综合征的结论性诊断。借助高通量测序技术,GLI2基因c.527A>G(p.确定了儿童中的Tyr176Cys）杂合突变。尚未发表的作品描述该突变位点。我们详细描述了儿童的Culler-Jones综合征。我们建议在考虑与儿童异常生长发育相关的疾病谱时考虑Culler-Jones综合征。一旦确诊,每个患者都需要个体化的激素替代治疗。
