Which condition is characterized by hypogonadism, mental retardation, and unilateral gynecomastia in males?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Klinefelter syndrome is characterized by the presence of an extra X chromosome in males, leading to a 47,XXY karyotype in most cases. This chromosomal abnormality results in several clinical features, including hypogonadism, which presents as reduced testosterone levels and underdeveloped secondary sexual characteristics. Mental retardation or learning difficulties are also commonly associated, although they may not be evident in all individuals.

Unilateral gynecomastia can occur due to the imbalance between estrogen and testosterone levels; in Klinefelter syndrome, the elevated estrogen levels can lead to breast tissue development. The combination of these features—hypogonadism, potential cognitive impairments, and gynecomastia—strongly points to Klinefelter syndrome as the condition in question.

Turner syndrome primarily affects females and is characterized by a missing or incomplete X chromosome, leading to different manifestations such as short stature and ovarian insufficiency. Androgen insensitivity syndrome involves resistance to androgens, which affects males but typically presents with a female phenotype and does not include hypogonadism or gynecomastia. Hematologic malignancy does not fit the specific criteria of hypogonadism, cognitive impairment, and unilateral gyne

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