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  • Title: Rapidly Progressive Precocious Puberty With an Elevated Testosterone Level in a 5-Year-Old Boy With a β-Human Chorionic Gonadotropin-Secreting Intracranial Germ Cell Tumor in the Pineal Gland.
    Author: Parra Villasmil MG, Kim C, Sato M, Kanner LA.
    Journal: AACE Clin Case Rep; 2022; 8(4):174-178. PubMed ID: 35959087.
    Abstract:
    OBJECTIVE: Peripheral precocious puberty (PP) is an infrequent etiology for early sexual development. Intracranial germ cell tumors (GCTs) are rare but can present infrequently with PP with the rate of development affected by the degree of tumor hormone production. Our objective was to describe a young boy with a β-human chorionic gonadotropin (hCG)-secreting intracranial GCT with an extremely elevated testosterone level, who presented with rapidly progressive PP. CASE REPORT: A 5-year-old boy presented with penile growth plus pubic hair, deepening voice, and body odor for 3 months. Physical examination revealed a height velocity of 16.25 cm/year, Tanner stage 3 pubic hair, and enlarged penis for age. Laboratory results revealed elevated serum and cerebrospinal fluid β-hCG and 17-hydroxyprogesterone progesterone levels. The testosterone level was above the initial detection range at 2700 ng/dL. Follicle-stimulating hormone and luteinizing hormone were prepubertal with normal serum and cerebrospinal fluid alpha-fetoprotein levels. Imaging showed a pineal mass diagnosed as a β-hCG-secreting GCT. During chemotherapy, the physical signs of PP remitted and laboratory values normalized. DISCUSSION: Intracranial tumors can cause peripheral PP in boys. If the tumor produces high β-hCG levels, this could cause severe hyperandrogenemia resulting in the rapid development of secondary sexual signs. GCTs should be considered in male patients with rapidly progressive PP, even in those lacking other signs of a brain tumor. CONCLUSION: When presented with a boy with PP, a GCT should be considered if workup shows an elevated testosterone level in conjunction with an elevated β-hCG level, especially if with rapid development.
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