Lin Chien-Ming, Lee Cheng-Ting, Tung Yi-Ching, Wu Mu-Zon, Tsai Wen-Yu, Yang Yung-Li, Lu Meng-Yao, Jou Shiann-Tarng, Lin Dong-Tsamn, Lin Kai-Hsin
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
J Formos Med Assoc. 2014 Feb;113(2):102-5. doi: 10.1016/j.jfma.2012.04.007. Epub 2012 Jun 12.
BACKGROUND/PURPOSE: Human chorionic gonadotropin (HCG)-secreting germ cell tumors (GCTs) are rare childhood malignancies with unique clinical manifestations but delayed diagnosis is common. The purpose of this study is to investigate the clinical manifestations and endocrine dysfunction of Taiwanese children with HCG-secreting GCTs.
From 1991 to 2011, 24 children (19 boys and five girls) with HCG-secreting GCTs were evaluated for their clinical findings and endocrine functions.
The mean age at diagnosis of the study patients was 10.8 ± 3.1 years. Of the 24 patients, 20 had central nervous system (CNS) GCTs and four had primary mediastinal GCTs (PMGCTs). The most common pathologic findings were germinomas and mixed type GCTs. The common initial symptoms and signs included polyuria, polydipsia, rapid growth, neurologic deficit,sexual precocity, and growth retardation. There was a delay in diagnosis in about 60% of patients. Diabetes insipidus and hypopituitarism were common endocrine dysfunctions in patients with CNSGCTs. Twelve boys had gonadotropin-independent puberty upon diagnosis, which were related to their high serum β-hCG levels. None of the five girls had this disorder despite their high serum β-hCG levels. Three of the four PMGCTs patients had the classic form of Klinefelter syndrome.
Taiwanese children with HCG-secreting GCTs often have clinical manifestations related to endocrine dysfunction. High index of suspicion is important to avoid delayed diagnosis in these children.
背景/目的：分泌人绒毛膜促性腺激素（HCG）的生殖细胞肿瘤（GCT）是罕见的儿童恶性肿瘤，具有独特的临床表现，但诊断延迟很常见。本研究的目的是调查台湾地区分泌HCG的GCT患儿的临床表现和内分泌功能障碍。
1991年至2011年，对24例分泌HCG的GCT患儿（19例男孩和5例女孩）的临床症状和内分泌功能进行了评估。
研究患者的平均诊断年龄为10.8±3.1岁。24例患者中，20例患有中枢神经系统（CNS）GCT，4例患有原发性纵隔GCT（PMGCT）。最常见的病理表现是生殖细胞瘤和混合型GCT。常见的初始症状和体征包括多尿、多饮、快速生长、神经功能缺损、性早熟和生长发育迟缓。约60%的患者诊断延迟。中枢性尿崩症和垂体功能减退是CNSGCT患者常见的内分泌功能障碍。12例男孩在诊断时出现促性腺激素非依赖性性早熟，这与他们高血清β-HCG水平有关。尽管5例女孩血清β-HCG水平较高，但均未出现这种疾病。4例PMGCT患者中有3例患有典型的克兰费尔特综合征。
台湾地区分泌HCG的GCT患儿常出现与内分泌功能障碍相关的临床表现。高度怀疑对于避免这些患儿的诊断延迟很重要。
