Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review

Liang, Bonnie; Cheung, Ada S; Nolan, Brendan J

doi:10.1111/cen.14734

Cited by 7 publications

(1 citation statement)

References 68 publications

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“…The majority of individuals with KS identify as male 79 . Gender diversity is not a prominent feature of the phenotype but KS has been reported in approximately 1% of transgender individuals, 80 where the population prevalence of gender dysphoria is thought to be in the order of 0.5%–1.3% 81 . An underlying diagnosis of autism spectrum disorder in case reports of gender diversity may be subject to ascertainment bias rather than the chromosomal complement per se 82,83 …”

Section: Do Individuals With Ks Experience Gender Diversity?mentioning

confidence: 99%

Klinefelter Syndrome: What should we tell prospective parents?

et al. 2022

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Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under‐virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population‐based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.

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Section: Do Individuals With Ks Experience Gender Diversity?mentioning

confidence: 99%

Klinefelter Syndrome: What should we tell prospective parents?

et al. 2022

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Toward depathologizing queerness: An analysis of queer oppression in clinical genetics

Berro,

Zayhowski

2023

Journal of Genetic Counseling

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Critically examining the way that the field of clinical genetics has impacted queer communities offers the field an opportunity to strengthen our commitment to inclusive high‐quality care to all patients, families, and communities. This article reviews the origins of clinical genetics and genetic counseling in the eugenics movement and how this ontology promoted harmful medical practices grounded in assumptions of what is “normal.” We critically examine existing clinical genetics practices and how commonly used binary frameworks for gender, sex, and sexuality perpetuate heteronormative, cisnormative, and bioessentialist assumptions. In order to move toward queer inclusivity, the genetic counseling field must first take accountability for past injustices. Restorative justice and trauma‐informed approaches offer a way to engage with the queer community and to begin to rectify the history of medical harm. Through our analysis, we advocate for expanding efforts to depathologize queerness, promote bodily autonomy, and provide equitable healthcare for the queer community.

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A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY

Harkin,

Elander

2024

Journal of Genetic Counseling

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People with Klinefelter syndrome (KS/XXY) may be at higher risk of gender dysphoria than the general population and gender diversity needs greater recognition and consideration in services for people affected. This study aimed to give systematic insights into experiences of gender diversity among people with KS/XXY, which could inform more person‐centered care for people with KS/XXY and contribute to practical guidance for healthcare professionals. We conducted individual, semi‐structured interviews with 11 adults with diagnosed KS/XXY. The verbatim interview transcripts were analyzed using experiential reflexive thematic analysis, which identified four themes: (1) Experience of gender, which described participants' experiences of exploring and negotiating their gender identity; (2) Navigating expectations, which described how participants' gender uncertainty was associated with confusion, isolation, and shame, and how fears about other people's reactions caused participants to keep their gender identity secret; (3) Testosterone assumptions, which described how participants needed more discussion and counseling before testosterone replacement therapy (TRT), and how some benefited from treatment with alternative hormones to testosterone; and (4) A different approach, which described participants' experiences of care at gender identity clinics. The findings give new insights into the gender identity journeys of people with KS/XXY, from early attempts to understand and make sense of gender, through dealing with social pressures, the development of gender identities more congruent with feelings, and experiences with hormone replacement therapy. The practice implications include that there should be improved consideration of gender identity in care for KS/XXY, better psychological support for those affected by gender diversity, and more consideration given to alternatives to testosterone‐based therapies. Future research could explore the experiences of gender identity among different groups of people with KS/XXY, the development of gender identity over time, the effects of TRT on gender identity, and healthcare providers' knowledge and attitudes about gender identity and KS/XXY.

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Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review

Cited by 7 publications

References 68 publications

Klinefelter Syndrome: What should we tell prospective parents?

Klinefelter Syndrome: What should we tell prospective parents?

Toward depathologizing queerness: An analysis of queer oppression in clinical genetics

A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY

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