What is the significance of diagnosis in Klinefelter’s Syndrome?
Research type
Research Study
Full title
’A Common Condition: A Rare Diagnosis?’ What is the significance of diagnosis in Klinefelter’s Syndrome (47,XXY)?
IRAS ID
172427
Contact name
Jennifer Faithfull-Lloyd
Contact email
Sponsor organisation
Bournemouth University
Duration of Study in the UK
3 years, 2 months, 2 days
Research summary
What is the significance of diagnosis in Klinefelter’s syndrome?
Klinefelter’s Syndrome is a sporadic, non-inherited genetic condition in males where there is the presence of an additional X chromosome. Although not well known, Klinefelter’s Syndrome is relatively common with an estimated incidence of approximately 1/650 males, compared to 1/250 incidence of autism in males and females. Few males are diagnosed, with only an estimated one quarter receiving a diagnosis and approximately 4-10% diagnosed before puberty.
Klinefelter’s Syndrome is associated with a significant number of increased health risks which cause a reduction in life expectancy of approximately 2-6 years. Although IQ is usually unaffected, a complex array of neurodevelopmental, learning and educational difficulties contribute to a frequently reported pattern of under achievement. Furthermore, there are increased risks of a constellation of mental health conditions (e.g. schizophrenia and depression).
Low diagnosis rates are attributed in the literature to two factors: low awareness among general practitioners and variability in presentation of the syndrome making diagnosis difficult or incorrect. Although this is universally reported, there is, to date, a paucity of evidence to explore the veracity of these claims. This research will examine if there is any evidence for these assertions by exploring perceptions of diagnosis from three different groups with different perspectives using qualitative interviews and questionnaires. These groups are: (a) affected individuals and their families (b) clinical specialists and (c) general practitioners. Interviews will last 60-120 minutes for Group (a) and 30-60 minutes for specialists and GPs depending on the time available. For Group (a) interviews will typically be conducted at home or mutually agreed meeting place and for Groups (b) and (c) at their place of work. This will provided much needed qualitative data about why diagnosis rates are low and the impact this has on affected individuals and their families.
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
16/SW/0001
Date of REC Opinion
12 Apr 2016
REC opinion
Further Information Favourable Opinion