Nature reviews. Endocrinology · 2010
Klinefelter syndrome presenting as behavioral problems in a young adult.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Molnar Alexandra M, Terasaki Genji S, Amory John K
Аннотация
BACKGROUND: An 18-year-old Somali man presented to a primary care clinic to investigate a potential pathophysiological reason for behavioral problems at school that had arisen in the past 1-2 years. A previous physical examination at school revealed the patient to have small, firm testicles which prompted further testing.
INVESTIGATION: Thyroid function and levels of prolactin, total testosterone, follicle-stimulating hormone and luteinizing hormone were determined. Testes were measured. Chromosome analysis testing was performed to determine the patient's karyotype.
DIAGNOSIS: Klinefelter syndrome with a 47,XXY karyotype.
MANAGEMENT: Testosterone replacement therapy was recommended, but the patient declined treatment.
INVESTIGATION: Thyroid function and levels of prolactin, total testosterone, follicle-stimulating hormone and luteinizing hormone were determined. Testes were measured. Chromosome analysis testing was performed to determine the patient's karyotype.
DIAGNOSIS: Klinefelter syndrome with a 47,XXY karyotype.
MANAGEMENT: Testosterone replacement therapy was recommended, but the patient declined treatment.