Case Report: Intracranial germ cell tumors in girls presenting with peripheral precocious puberty and arginine vasopressin deficiency.
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OBJECTIVE: This report summarizes the clinical characteristics of three female children with clinically diagnosed β-human chorionic gonadotropin (β-hCG)-secreting intracranial germ cell tumors (iGCTs) who presented with peripheral precocious puberty (PPP) and arginine vasopressin deficiency (AVP-D), with the aim of facilitating earlier diagnosis and treatment. METHODS: Clinical data of the 3 female patients with iGCTs with initial symptoms of PPP and AVP-D were retrospectively analyzed, and the relevant literature was reviewed. RESULTS: All the 3 female children first had polydipsia and polyuria, but their parents paid no attention or sought no medical help until the girls developed thelarche. The children were diagnosed with PPP and AVP-D. Moreover, their β-hCG levels were elevated in the peripheral blood (PB) and cerebrospinal fluid (CSF), and pituitary magnetic resonance imaging (MRI) revealed space-occupying lesions in the sellar region. Initial serum β-hCG concentrations in the 3 children were 5010.0, 314.3, and 202.8 mIU/mL, respectively. After regular chemotherapy and radiotherapy, β-hCG levels in the PB and CSF returned to normal, MRI scans revealed tumor reduction, Tanner stages regressed to stage I, and estradiol and testosterone levels decreased. Seven months after the treatment was completed, Patient 1 developed rapidly progressive central precocious puberty. CONCLUSION: In children of either sex presenting with precocious puberty accompanied by multiple pituitary dysfunctions, including AVP-D, or mass effect manifestations, such as decreased visual acuity, routine serum β-hCG and AFP testing and contrast-enhanced sellar MRI are recommended to exclude organic lesions, including iGCTs.