Klinefelter’s syndrome does not cause delayed puberty

I was surprised to see the front cover picture and editorial of the 5 January BMJ wrongly linking delayed puberty with Klinefelter’s syndrome.1 The evidence is clear from follow-up studies of children with sex chromosome aneuploidy identified at birth through international cytogenetic screening programmes, thus of unbiased ascertainment, that boys with Klinefelter’s syndrome have an onset of pubertal development entirely within the normal range.2 3 4

Primary presentation of delayed …