The Lived Experience of 47XXY (Klinefelter Syndrome): A Narrative Review of the Literature

It’s really great when researchers show this kind of initiative, almost like filling in the blanks and stating more clearly what renowned researchers wish they could say but who feel compelled to stick within the guidelines of grants and other less obvious monetary interests of their work, which is sad, because we never get to understand the whole picture. and from an XXY perspective that means continually ignoring the whole Elephant and focusing only on the tail. An additional bonus here is the work is peer reviewed by two power-horses of XXY research both of whom are long time affiliates of The Arrhaus University Denmark, a world renowned centre for understanding the underpinnings not just of 47XXY but also of other sex chromosome variations.

As a community we owe it to ourselves to ask uncomfortable questions or questions abounding areas researchers might not otherwise have given any thought to. Intersex Human Rights Australia (previously known as OII Australia) was one organisation who asked the lead researcher Dr Amy Herlihy who was conducting research on behalf of Andrology Australia “Screening for Klinefelter’s Syndrome” if they were just looking for male identified XXY’s or were they also interested in females, this was the reply

So the moral of the story is, if you don’t ask the question, not only will you never know the answer but it will never be recorded as having been asked.

The XXY Project

Klinefelter syndrome (KS) or 47, XXY is a chromosomal disorder in males. Persons with KS have an additional X chromosome creating karyotype 47, XXY and 46, XY/47, XXY mosaics. According to existing epidemiological studies KS is one of the most common genetic disorders, affecting ~1 in 500 men. Whilst there can be phenotypic variation between individuals, physical traits associated with the syndrome can include small testes, a less muscular body, less facial and body hair, broader hips, and increased breast tissue. This physiological background and associated traits can generate questions relating to gender identity and a proportion of KS individuals will not identify as male, instead identifying as female, non-binary or intersex.

Learning difficulties, low self-confidence and issues relating to social interaction are also reported in relation to those with KS. Whilst a number of physical and developmental issues are therefore associated with KS, infertility is a common feature of the disorder. Estimates suggest that over 95% of those with KS are infertile, although some men with KS can seek to have biological children using advanced assisted reproductive technologies such as surgical sperm retrieval followed by intracytoplasmic sperm injection (ICSI). Such approaches are however high risk and uncertain, and those with KS may also be faced with decisions about the use of donor sperm, adoption, or remaining childless. This review examines the existing psychosocial evidence around the impact of KS, exploring what we know about KS and its relevance for health care for this group.

This narrative review suggests that a lack of or late diagnosis remains a critical problem in relation to KS. Whilst prenatal screening techniques may improve future diagnosis, current low levels of diagnosis remain problematic, particularly for the possibility of improving physical and mental health outcomes. This is particularly important as those with KS are reported to have poorer health outcomes than the general population across a range of measures, including quality of life and comorbidities result in a decreased life expectancy for those with the disorder. The perception that all persons with KS will demonstrate “textbook” signs is viewed as compromising the ability of patients to obtain a diagnosis. Early diagnosis allows for more extensive options for children and adolescents to preserve their fertility, which is seen as one of the key concerns for patients, although this remains an area in need of further research. Diagnosis itself can be a relief for patients, which is similar to other long-term health conditions although the literature details that uncertainty can also spring from a KS diagnosis, perhaps connected to the perceived lack of knowledge by HCPs reported within the literature.

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 HCPs around KS. There is a consensus in the literature around the importance and value of the multidisciplinary team as a means of providing care to KS patients. Coordinated approaches to care are currently seen to be lacking despite evidence of the effectiveness of such approaches being noted in relation to other illnesses. Questions of gender identity are noted within the literature but not extensively explored; how those with KS identify and how this then intersects with their experiences of healthcare remains an important area for future consideration.

Given the prevalence of KS within the population, greater research focus on the disorder in the future, particularly in relation to reproductive health and the psychosocial impact of KS, would have a significant impact for patients and their families. There are inevitably limitations to a short review of this nature, and not all papers which may be relevant to KS, particularly those which are more clinically focused appeared within our search, thereby illustrating a well-recognised limitation of literature keyword search based review algorithms. The voices of those with KS appear to be currently lacking from the literature, which could be further marginalising, so future research should attempt to capture the lived experience of those with KS and use participatory methods where possible to embed this lived experience centrally within research. Developing a priority setting partnership for those with KS to identify and rank key research areas for the future would be fruitful, and co-production of research agendas would help with inclusion of this otherwise hidden group. Attempts to move forward research and care for those with KS should then begin with a central focus on what matters to those with KS and seek to make positive improvements to their diagnosis, outcomes and encounters with healthcare professionals.

Footnotes

Whilst we refer to men within this paper, given that primarily those with KS will identify as male, we are aware that not all will identify as male, and have chosen this terminology for clarity and to reflect the medical literature on this topic.

Continues reading…….

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