罕见中枢性性早熟同患分泌绒毛膜促性腺激素的颅内生殖细胞肿瘤女性患儿1例研究报告

Intracranial beta human chorionic gonadotropin-secreting germ cell tumor in a girl with central precocious puberty

目的 报告1例中枢性性早熟(central precocious puberty, CPP)女性患儿同患分泌绒毛膜促性腺激素(HCG)的颅内生殖细胞肿瘤(intracranial germ cell tumor, IGCT)资料,为临床CPP的精准诊治提供理论指导。方法 总结2020年12月首次就诊于中山大学附属第一医院的1例CPP同患分泌HCG的IGCT女性患儿临床资料,并进行文献复习。结果 该例患儿7岁3月龄时出现乳房发育伴生长加速;8岁2月龄于当地诊断CPP,同时发现血β-HCG升高(56.45~20.70 IU/L);8岁9月龄于中山大学附属第一医院就诊示血和脑脊液β-HCG均升高(分别为40.03 IU/L,103.22 IU/L)、甲胎蛋白(AFP)正常。经头颅鞍区脊髓核磁共振成像(MRI)、头颅CT、胸腺CT/MRI、腹部/盆腔B超等检查,确诊为分泌HCG的颅内非生殖细胞瘤性生殖细胞肿瘤(右侧基底节豆状核)、中枢性性早熟、松果体囊肿。予联合化疗连同促性腺激素释放激素(GnRHa)治疗CPP,后化疗不敏感,转脑科医院治疗,予松果体病变手术病理为中枢神经细胞瘤。结论 该例CPP女性患儿同患分泌HCG的IGCT为国际首例报告;其CPP的发生与该肿瘤分泌的HCG无关,与该肿瘤和松果体病变导致的中枢神经系统病变可能有关;血β-HCG及AFP检测应纳入性早熟的诊断流程的基本筛查项目。女性CPP(甚至>6岁发病)即使无中枢神经系统异常临床表现,头颅(垂体)MRI/CT检查也是必要的。

Objective To report a girl with intracranial β-HCG-secreting germ cell tumor(IGCT) and central precocious puberty(CPP)in order to provide theoretical guidance for the precise clinical diagnosis and treatment of CPP.Methods We summarized the clinical data of a CPP girl with intracranial β-HCG-secreting GCT and reviewed the relative literatures. Results The girl was admitted to our hospital because of breast development and growth acceleration at 7 years and 3 months, and was diagnosed with CPP concurrently with elevated serum β-HCG levels(56.45-20.7 IU/L) at 8 years and 2 months at local hospital. On admission to the First Hospital of Sun Yat-sen University at 8 years and 9 months, physical examination revealed that serum and cerebrospinal fluid(CSF) β-HCG was increased(40.03 and 103.22 IU/L,respectively)and normal AFP A magnetic resonance imaging scan of the head with enhancement revealed a lesion at the lenticular nucleus in the right basal ganglia considered to be the GCT focus, and pineal cyst. Intracranial non-germinomatous germ cell tumor was diagnosed, and combination chemotherapy was initiated with GnRHa therapy for CPP. The girl was transferred to another brain hospital due to insensitivity to chemotherapy, and the pathology of pineal lesion was ‘central neurocytoma’. Conclusion This is the first female case of intracranial β-HCG-secreting germ cell tumor concomitant with CPP. In this case, CPP seems unlikely to attribute to the elevated β-HCG secreted by the tumor. CNS lesion due to the tumor in the right lenticular nucleus and the pineal lesion may contribute to CPP. Detections of serum HCG and AFP should be included for the diagnosis of precocious puberty, regardless of boys or girls. Cranial MRI/CT is also necessary in girls with CPP(even older than 6 years of age)even if there is no abnormal clinical manifestations of central nervous system.