USMLE Step 1 Male Reproductive Pathology practice questions
Male reproductive pathology on Step 1 centers on testicular germ cell tumors, benign and malignant prostate disease, and genetic/anatomic causes of infertility. High-yield distinctions include tumor marker and histology patterns for testicular tumors, zonal anatomy separating BPH (transition zone) from adenocarcinoma (peripheral zone), and the seminiferous tubule and endocrine mechanisms underlying conditions like Klinefelter syndrome and cryptorchidism.
A 32-year-old man comes to the physician because of painless enlargement of his left testicle over the past 3 months. He reports no fever, trauma, or urinary symptoms. Examination shows a firm, non-tender left testicular mass that does not transilluminate. Serum AFP and β-hCG are within normal limits. Ultrasound shows a homogeneous hypoechoic intratesticular mass. Radical orchiectomy is performed, and histologic examination shows sheets of large polygonal cells with clear cytoplasm and distinct cell borders, divided into lobules by fibrous septa infiltrated with lymphocytes. Which of the following is the most likely diagnosis?
A 6-month-old boy is brought to the physician for a well-child visit. His mother reports that his right scrotal sac has appeared empty since birth. Examination shows an empty right hemiscrotum; a soft, mobile mass is palpated along the right inguinal canal and cannot be manipulated into the scrotum. The left testis is normally descended. Surgical correction is scheduled for later this year. If this condition is not surgically corrected, it most directly increases this patient's future risk of testicular malignancy through which of the following mechanisms?
A 68-year-old man comes to the physician because of a 1-year history of urinary hesitancy, a weak urinary stream, and waking three times nightly to urinate. He has not had dysuria, fever, or hematuria. Digital rectal examination shows a smoothly and symmetrically enlarged, nontender prostate. Serum PSA is 2.1 ng/mL. Which of the following processes is most likely responsible for this patient's prostatic enlargement?
A 71-year-old man comes to the physician because of a 6-month history of dull lower back pain and an unintentional 6-kg (13-lb) weight loss. Digital rectal examination shows a firm, irregular nodule on the posterior aspect of the prostate. Serum PSA is 38 ng/mL. Transrectal biopsy shows small, crowded glands with prominent nucleoli infiltrating the surrounding stroma, without an intact surrounding basal cell layer. This tumor most likely arose from which of the following regions of the prostate?
A 19-year-old man comes to the physician because he and his wife have been unable to conceive after 1 year of regular unprotected intercourse. He is 193 cm (6 ft 4 in) tall with disproportionately long extremities, sparse facial and body hair, and mild gynecomastia. Testicular examination shows small, firm testes bilaterally. Karyotype analysis shows a 47,XXY chromosomal complement. Laboratory studies show elevated serum FSH and LH with a low serum testosterone concentration. Which of the following is the most likely mechanism of this patient's infertility?
Male Reproductive Pathology, answered
How do I quickly distinguish seminoma from the non-seminomatous germ cell tumors on Step 1?
Seminoma classically presents with a homogeneous, painless testicular mass, sheets of clear cells with a lymphocytic infiltrate, and normal or only mildly elevated β-hCG with a normal AFP. Any clearly elevated AFP points away from pure seminoma and toward a non-seminomatous element such as yolk sac tumor, and markedly elevated β-hCG with hemorrhage and necrosis points toward choriocarcinoma.
What are the highest-yield features for telling BPH apart from prostate adenocarcinoma?
Focus on zone, exam findings, and PSA trend: BPH arises in the periurethral transition zone and presents as smooth, symmetric enlargement with a normal or only mildly elevated PSA, while adenocarcinoma arises in the posterior peripheral zone and presents as an irregular, firm nodule with a rising PSA over time.
Do I need to memorize exact PSA or AFP/β-hCG cutoff numbers for Step 1?
No. Step 1 tests the direction and pattern of marker changes and the underlying mechanism rather than precise cutoff values, so it is more useful to know which tumors elevate which markers and why than to memorize specific numeric thresholds.
How much detail do I need on causes of male infertility beyond Klinefelter syndrome?
Know the basic mechanism and hormone pattern for the classic causes tested: Klinefelter syndrome (seminiferous tubule hyalinization, low testosterone, high FSH/LH), congenital bilateral absence of the vas deferens (obstructive, associated with CFTR mutations), and varicocele (impaired thermoregulation from venous congestion); a detailed andrology workup is beyond Step 1's scope.
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