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Klinefelter syndrome

Background

Klinefelter syndrome: XXY syndrome (sometimes includes XXXY and, until recently, XXXXY)

Klinefelter syndrome was first described in a paper of 1942 by Dr Harry Klinefelter and colleagues. It occurs only in males and is due to a chromosomal abnormality. A chromosome is a rod-like structure present in the nucleus of all body cells, with the exception of the red blood cells, and which stores genetic information. Normally humans have 23 pairs of chromosomes, the unfertilised ova and each sperm carrying a set of 23 chromosomes. On fertilisation, the chromosomes combine to give a total of 46 (23 pairs). A normal female has an XX pair and a normal male an XY pair.

What are the symptoms?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St George's Hospital Medical School, London UK and Dr JE Wraith, Consultant Paediatrician, Royal Manchester Children’s Hospital, Manchester, UK. Psychological and behavioural characteristics text written by Dr A Kuczynski, Child Clinical Psychologist, South London and Maudsley NHS Trust, London, UK and Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK. Last updated September 2005 by Dr R Stanhope, Consultant Paediatric Endocrinologist, The Portland Hospital, London UK.

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