BSPED2023 Poster Presentations Gonadal, DSD and Reproduction 2 (10 abstracts)
Challenging clinical scenario: Germ cell tumor masquerading as peripheral precocious puberty in a one-year-old boy from Pakistan
Pediatric Endocrine Department, National Institute of Child Health, Karachi, Pakistan
Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating potential malignancy. Additionally, his testosterone levels were significantly elevated, while follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels remained within normal ranges.Ultrasound examination of the left hip region unveiled an 8.1 cm×7.3 cm heterogenous mass, suggesting the possibility of an underlying pathology. Further evaluation through magnetic resonance imaging (MRI) of the lumbosacral region revealed a 9.5 cm×7.2 cm mass, supporting the presence of a tumor. Subsequent biopsy of the mass exhibited features consistent with a germ cell tumor, with the presence of Schiller–Duval bodies, a histopathological hallmark. Additionally, positive immunohistochemistry further confirmed the diagnosis.Germ cell tumors are uncommon in young children, making this case particularly intriguing. The occurrence of peripheral precocious puberty in conjunction with a germ cell tumor in a one-year-old boy poses a significant diagnostic and management challenge. Further investigations, such as genetic testing and molecular analysis, may be warranted to identify any underlying genetic abnormalities associated with this presentation.Treatment options for this case include a multidisciplinary approach involving surgical resection, chemotherapy, and, potentially, radiation therapy, depending on the tumor’s characteristics and stage. Regular monitoring and follow-up are crucial to assess treatment response, monitor hormone levels, and detect potential complications. This case report highlights the importance of considering germ cell tumors in the differential diagnosis of peripheral precocious puberty, even in very young children. It underscores the significance of thorough evaluation, histopathological examination, and appropriate management strategies to optimize outcomes in such rare and challenging cases.