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Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion
  1. A H Németh1,2,
  2. I W Gallen3,
  3. M Crocker1,
  4. E Levy2,
  5. E Maher1
  1. 1Department of Clinical Genetics and Medical Genetics Laboratories, Churchill Hospital, Oxford, UK
  2. 2Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, UK
  3. 3Department of Medicine, Division of Diabetes and Endocrinology, Wycombe General Hospital, High Wycombe, Bucks, UK
  1. Correspondence to:
 Dr A H Németh, Department of Clinical Genetics, Churchill Hospital and Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK;
 andrea.nemeth{at}well.ox.ac.uk

https://doi.org/10.1136/jmg.39.6.e28

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    Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement 47,XXY. We present a case of a male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found, on karyotype analysis, to have a hitherto undescribed inversion of the long arm of the X chromosome (46,Y,inv(X)(q12q25)). The underlying genetic mechanisms responsible for his phenotype are unknown, but may include direct interruption of X chromosome genes around the breakpoint(s), a position effect, and/or impairment of normal chromosome pairing at meiosis.

    CASE REPORT

    A 43 year old man presented with symptoms of impotence, weakness, and depression. He had noticed a reduction in testicular size and limited body hair compared to other men. These symptoms were of very gradual onset. He first sought medical help at the age of 16 years when he went to see his general practitioner because of his perceived lack of secondary sexual development. He had complained of small genitalia, lack of body hair, and lack of erections. Unfortunately, his symptoms were not investigated and because of his embarrassment about his situation he did not seek further medical help until he was in his late 20s, by which time he was now married and seeking help for infertility. Investigations at that time showed that he had no spermatozoa. He recollects being told that his testosterone level was low and that his pituitary gland was overactive. He was also told that his infertility would be untreatable. Once again, disappointed, he sought no further medical help.

    In the family history, he had one brother with …

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