Abstract
The diagnosis of Klinefelter's syndrome was made at 11 years of age. The patient was born normally at full term and, although his mother noticed occasions when he was "different" from his siblings, he encountered no major problems until 6-7 years of age when he gained weight excessively and began exhibiting "difficult" behaviour with delayed motor and neurocognitive milestones. Following his presentation to children's community services with pertussis aged 10 these developmental issues began to be explored, culminating in his karyotype being checked.
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