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'A common condition: a rare diagnosis?' What is the significance of diagnosis in Klinefelter’s Syndrome (47, xxy)?

Faithfull-Lloyd, J., 2019. 'A common condition: a rare diagnosis?' What is the significance of diagnosis in Klinefelter’s Syndrome (47, xxy)? Doctoral Thesis (Doctoral). Bournemouth University.

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FAITHFULL-LLOYD, Jennifer Frances_Ph.D._2019.pdf



Klinefelter's Syndrome (47,XXY) is a sporadic, non-inherited genetic condition occurring only in males where there is the presence of an additional X chromosome. Although not well known, Klinefelter's Syndrome is reported to be relatively common with an estimated incidence of between approximately 1/450 - 1/660 males (Radicioni & Lenzi 2010; Geschwind & Dykens, 2004). Few males are diagnosed, with only an estimated one quarter receiving a diagnosis and approximately 4 - 10% diagnosed before puberty. Lack of diagnosis is reported to be a 'major problem' not least because of the array of significant health risks associated with the condition (Nieschlag, 2013; Bojensen & Gravholt, 2007). Low diagnosis rates are attributed in the literature to two factors: low awareness in general clinicians and variable phenotype. Despite the fact that low diagnosis rates are widely attributed in the literature to low awareness among general practitioners and variability in presentation of the syndrome making diagnosis difficult, there is a paucity of evidence to explore the veracity of these claims. This qualitative research examined the evidence for these assertions by exploring pathways to diagnosis and perceptions of the impact of diagnosis, or lack of it, from three different groups with different perspectives. These groups are: (a) affected individuals and their families (b) clinical specialists and (c) general practitioners. What emerged was a picture of often long journeys for individuals and families as they struggled to find out ‘what was wrong’ with considerable impacts when diagnosis was not made until later in life. General practitioners appeared to have little or no knowledge of the syndrome, as did many clinical specialists. Lack of knowledge was compounded by a fractionated referral process and lack of clarity about who may be responsible for making a diagnosis. Recommendations for ways forward from the current impasse are proposed.

Item Type:Thesis (Doctoral)
Additional Information:If you feel that this work infringes your copyright please contact the BURO Manager.
Uncontrolled Keywords:klinefelter's syndrome; 47, xxy; diagnosis; klinefelter's
Group:Faculty of Science & Technology
ID Code:32698
Deposited By: Symplectic RT2
Deposited On:02 Sep 2019 14:17
Last Modified:14 Mar 2022 14:17


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