Letters Klinefelter’s syndrome

Klinefelter’s syndrome does not cause delayed puberty

BMJ 2013; 346 doi: https://doi.org/10.1136/bmj.f518 (Published 30 January 2013) Cite this as: BMJ 2013;346:f518
  1. Gary Butler, professor and consultant in paediatric and adolescent endocrinology1
  1. 1University College Hospital, London and UCL Institute of Child Health, London, UK
  1. gary.butler{at}ucl.ac.uk

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 …

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