Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, China.
Department of Gastroenterology, Affiliated Hospital of Qingdao University, Qingdao, China.
Front Endocrinol (Lausanne). 2023 Mar 3;14:1133492. doi: 10.3389/fendo.2023.1133492. eCollection 2023.
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 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.
库勒-琼斯综合征是一种罕见的临床现象，表现多样，容易误诊。我们报告了 1 例以 10 年嗅觉丧失和 1 年附睾痛为主要表现的患者，最初怀疑为卡尔曼综合征。然而，患者的实验室检查、影像学和基因检测结果相结合，明确诊断为库勒-琼斯综合征。借助高通量测序技术，发现患儿携带 基因 c.527A>G（p.Tyr176Cys）杂合突变，该突变位点尚未见文献报道。我们详细描述了 1 例儿童库勒-琼斯综合征，建议在考虑儿童生长发育异常相关疾病谱时应考虑库勒-琼斯综合征。一旦确诊，每个患者均需个体化的激素替代治疗。
