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

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.

Keywords: AFP, alpha-fetoprotein; CSF, cerebrospinal fluid; FSH, follicle-stimulating hormone; GCT, germ cell tumor; LH, luteinizing hormone; NGGCT, nongerminomatous germ cell tumor; PP, precocious puberty; germ cell tumor; hCG, human chorionic gonadotropin; human chorionic gonadotropin; peripheral precocious puberty; precocious puberty; testosterone.

Fig. 1

A, Growth chart demonstrating a marked increase in linear growth from the 97th percentile to >99th percentile within 1 year. B, Height velocity of 16.245 cm/year (>99th percentile) over an 11-month period between documented measurements.

Fig. 1

A, Growth chart demonstrating a marked increase in linear growth from the 97th percentile to >99th percentile within 1 year. B, Height velocity of 16.245 cm/year (>99th percentile) over an 11-month period between documented measurements.

Fig. 2

Dramatic changes of the virilization of the patient’s appearance over 6 months, including well-defined, masculine cheek bones, facial elongation, and redistribution of facial adipose tissue.

Fig. 3

Bone age was advanced to 11 years and 6 months at a chronological age of 5 years and 6 months.

Fig. 4

Brain magnetic resonance imaging with contrast shows a heterogeneous cystic mass at tectal/pineal region with peripheral contrast enhancement. It measures 1.6 (transverse) × 1.8 (anteroposterior) cm. A, Axial plane. B, Sagittal plane.