Case Report: Familial hCG syndrome with elevated hCG level concurrently in blood and cerebrospinal fluid

作者：Danyi Wang, Meng-Lin Huang, Jing Zhang, Rujiang Zheng, Qiuli Chen, Song Guo, Bing Wang, Yanhong Li, Huamei Ma · 发表于：Frontiers in Endocrinology · 年份：2026 · DOI：10.3389/fendo.2026.1806387 · 研究领域：Hypothalamic control of reproductive hormones、Fetal and Pediatric Neurological Disorders、Teratomas and Epidermoid Cysts

Objective: To describe a rare pediatric case of familial human chorionic gonadotropin (hCG) syndrome presenting with concurrent elevation of beta-hCG (β-hCG) in both blood and cerebrospinal fluid (CSF). This report aims to expand the phenotypic spectrum of this condition and discuss diagnostic challenges to avoid misdiagnosing this benign disorder as an intracranial malignancy. Methods: Clinical data were collected from the proband, an 8-year-9-month-old girl presenting with central precocious puberty (CPP) and unexplained hCG elevation. To evaluate the differential recognition of hCG variants by diverse detection antibodies, serum and CSF β-hCG levels were cross-monitored using both Abbott Architect and Roche Elecsys platforms. Additional evaluations included magnetic resonance imaging (MRI), computed tomography (CT), and pathological examination. Whole-exome sequencing (WES) and family screening of first-degree relatives were conducted to identify the etiology. A literature review regarding familial hCG syndrome was also conducted. Results: The patient was initially diagnosed with CPP due to breast development and accelerated growth. During routine screening to exclude tumor-associated precocious puberty, she was found to have elevated serum β-hCG (132.1-136.3 IU/L, Roche Elecsys) and was referred to our hospital. Imaging revealed a pineal cyst without evidence of tumor. Both serum and CSF β-hCG levels were elevated (45.58 and 103.22 IU/L, respectively; Abbott Architect), w...