Klinefelter with Testicular Tumour — RACP Paediatrics MCQ

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HardEndocrinologyKlinefelter with Testicular TumourRACP Paediatrics

A 15-year-old boy presents with a painless testicular mass. Serum AFP and beta-hCG are elevated. USS shows a solid testicular mass. He also has bilateral gynaecomastia. Karyotype shows 47,XXY. What is the underlying syndrome?

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Correct answer: B — Klinefelter syndrome

Klinefelter syndrome (47,XXY) presents with tall stature, small firm testes, gynaecomastia, learning difficulties, and infertility. It carries an increased risk of breast cancer and germ cell tumours (particularly mediastinal and testicular). Testosterone replacement is commenced at puberty if needed.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics