Extragonadal germ cell tumors are tumors of gonadal origin representing less than 5% of germ cell malignancies that form outside gonads. These are typically found in the mediastinum, retroperitoneum, or pineal gland.
A 26-year-old man presented to the infertility clinic in January 2016 with a 2-year history of infertility. He had known hypertrophic cardiomyopathy due to MYH7 sarcomere mutation, treated with an implantable cardioverter defibrillator. The patient’s partner was healthy. Initial investigations performed by their general practitioner showed hypertestosteronemia (52.9 nmol/L; normal range, 9.0-26.0 nmol/L) and azoospermia (0 sperm per 20 mL of ejaculate).
During consultation, he reported hoarseness of voice, hypersexuality, and increased hair distribution on his torso and extremities over the past 3 years. He denied having used anabolic steroids or any supplements and was only taking amiodarone to ameliorate arrhythmias from his hypertrophic cardiomyopathy. On examination, he had normal stature and was hirsute with bilaterally small testes (<10 mL each) but had no evidence of any masses during palpation. A testicular/scrotal ultrasound was unremarkable. Subsequent investigations revealed consistently elevated testosterone (52.9 nmol/L), β-human chorionic gonadotropin (900 IU/L; normal range, <1 IU/L), and estradiol (738 pmol/L; normal range, 36.7-147 pmol/L) and suppressed follicle-stimulating hormone and luteinizing hormone (<1 IU/L; normal follicle-stimulating hormone, 2-9I U/L; luteinizing hormone, 2-12 IU/L). Remaining test results were normal. The provisional diagnosis of an extratesticular germ cell tumor was suspected, and whole-body computed tomography revealed a 7 × 6 × 5-cm mass of the anterior mediastinum (Figure 1) without further disease dissemination. Because of the patient’s hypertrophic cardiomyopathy and reduced ejection fraction (∼35%), he was not eligible for neoadjuvant treatment with bleomycin-etoposide-cisplatin,1 in view of the increased risk for cardiotoxicity,2 and was instead referred for surgery. Immediately after excision of the mass, his testosterone decreased to undetectable levels (1.0 nmol/L) confirming that β-human chorionic gonadotropin hypersecretion by the tumor was driving hypertestosteronemia (Figures 2 and 3). After surgery, considering his hypertrophic cardiomyopathy, he was offered 1 high-dose adjuvant carboplatin cycle (6 AUC). He was not referred for surgical sperm extraction before chemotherapy because of the low risk of gonadal toxicity from 1 carboplatin cycle.3 At last follow-up, his testosterone was normal (18.7 nmol/L) (Figure 4) without evidence of disease recurrence, and the couple was referred for microsurgical sperm retrieval followed by in vitro fertilization with intracytoplasmic sperm injection.4
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-Georgios K. Dimitriadis, MD, MSc, PhDc, Gregory Kaltsas, MD, PhD, Tarek Ghobara, MSc, Bidisa Sinha, MD, Eftychia E. Drakou, MD, Kishore Gopalakrishnan, MD, Christos Kosmas, MD, PhD, Stephen D. Keay, MD, Dimitris K. Grammatopoulos, PhD, Harpal S. Randeva, MD, PhD
This article originally appeared in the June 2017 issue of The American Journal of Medicine.
