Case history
Case history #1
A 27-year-old man attends the infertility clinic with his partner for evaluation. They have been trying unsuccessfully to conceive for 24 months. Sperm analysis shows azoospermia. On examination, subtle clinical features of hypogonadism are seen, including small testes, excessive abdominal fat accumulation, and sparse facial hair. On questioning about symptoms, the man says he has a low libido and suffers from fatigue. Two early-morning fasting blood samples show testosterone levels of 9 nanomol/L (260 nanograms/dL), with LH/FSH levels of 25 IU/L and 56 IU/L, respectively. Karyotype analysis is arranged and the result shows 47,XXY.
Case history #2
A 5-year-old boy presents with a history of slow expressive speech development compared with his peers. His parents say his non-identical twin brother is much more vocal and more physically and verbally dominant in family settings. The boy took longer than his brother to learn to walk and to feed himself with a spoon and he still has poor pencil control. He is now embarrassed that his penis is smaller than his brother’s and gets teased about this by him.
Other presentations
In adolescence, puberty begins on time with testicular growth starting normally but may stall after a year or two, with the testes reducing in size.[2][5] Gynaecomastia is common.[2] The usual pattern of becoming slimmer and more muscular as puberty progresses is absent, with boys who have KS often gaining weight around the abdomen and hips. Adolescent boys may also struggle to keep up with their peers at school and suffer from difficulties with planning their time and tasks. They may experience social and psychological challenges and spend a lot of time alone.[2]
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