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The Lived Experiences Of Klinefelter: 20 Years of Psychological & Social Research

"The presence of an extra 47th X chromosome is common and almost every clinician in almost every sub-specialty of medicine will knowingly or unwittingly treat boys or men with Klinefelter (‘XXY’) and girls or women with Triple X (‘XXX’).
Yet fewer than 10% of cases of Klinefelter Syndrome (KS) are diagnosed before puberty, with only 6% diagnosed before aged 10 and 21% diagnosed before aged 20.
A lack of or late diagnosis remains a critical problem in relation to KS. The perception that all persons with KS will demonstrate “textbook” signs is viewed as compromising the ability of patients to obtain a diagnosis.
The experience with healthcare for persons with KS is described as poor, ranging from a lack of information to misinformation, due to a perceived lack of expertise among healthcare professionals.
Coordinated approaches to care are currently seen to be lacking despite evidence of the effectiveness of such approaches."

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The Lived Experiences Of Klinefelter Syndrome: A Narrative View of the Literature. A review of 22 selected research papers from the past 20 years relating to the psychological and social aspects of Klinefelter syndrome (KS).

Frontiers in Endocrinology, 26 Nov. 2019

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