Questions for BRCA1+ Trans-Feminine Youth

A new case study this week in the journal LGBT Health explores the story of a trans-feminine youth identified as BRCA1+ at the onset of hormone therapy. Little is known about best practices for BRCA1+ trans youth, even though many physical and hormonal considerations exist.

In the latest issue of LGBT Health, a medical team in New England presents a case study and ethical opinion piece about a trans-feminine youth identified as BRCA1+, meaning they possess a genetic mutation known to increase cancer risk, especially in breast and ovarian tissue. Although BRCA1 testing is not generally recommended in youth, there is theoretical concern for BRCA1+ trans-masculine and -feminine youth seeking gender affirming procedures, however little evidence is presently available. It is possible that full breast-tissue removal and hysterectomies are effective cancer risk-reduction strategies in BRCA1+ trans-masculine youth. Likewise, it is possible that feminizing hormones increase the risk and/or rate of onset of some cancers in BRCA1+ trans-feminine youth.

The individual and their family in this particular case study originally presented to the medical team physician when the youth was 14 years old. The youth, born male, was interested in starting puberty-suppressing hormones as part of treatment for gender dysphoria. In the initial visit, the youth's mother self-reported that she was BRCA1+ and a two-time survivor of breast cancer. It was the physician's suggestion, with this information, that the youth be tested for BRCA1 before starting feminizing hormones, which could theoretically increase breast cancer risk by promoting breast tissue development. After a year on pubertal blockers, the youth requested to begin estrogen therapy.

‘‘I know I can’t stay on pubertal blockers forever. I have to pick one side or the other and I want to pick the girl side.’’

The medical team genetic counselor met with the family and disclosed the BRCA1+ finding, as well as future cancer screening recommendations. They suggested the family follow those put forth for cisgender women with early BRCA1+ detection (i.e., more frequent and earlier screening), which are known to increase stress and anxiety. The counselor also recommended an oncology consult before starting feminizing hormones. Two referrals were denied on bases of lack of expertise.

"The risk in an XY woman has to be less than the risk in an XX woman. And anyway, I’d rather live a shorter life as a woman than a longer life as a man."

Through additional outside consultation, the medical team decided that the autonomy of the youth and their family in the decision-making process to start feminizing hormones was to be respected fully. It is well known that hormone replacement therapy can profoundly impact the quality of life of trans youth experiencing gender dysphoria. Therefore, the case was presented to the family as such:

  • Stop pubertal blockers and allow the youth to experience puberty in their assigned gender (unacceptable risks of gender dysphoria)

  • Continue pubertal blockers indefinitely, with surgical gender transition (unacceptable risks of osteoporosis)

  • Continue pubertal blockers until the youth reaches age of consent (risk of delay in puberty and uncertain utility)

  • Proceed with feminizing hormones with recommendations for appropriate cancer screening (question increased risk of cancers)

The decision had been made more complicated by the mother's deteriorating health condition. However, the family consented to starting feminizing hormones and the physician agreed to prescribe hormones when the family and therapist were ready. Sadly, the youth's mom passed away shortly after the consent process. To date, the youth has not begun feminizing hormones and remains solely on pubertal blockers.

This case presents an emotional and personal justification for the visibility of trans lives in research and care recommendations. With profound implications for BRCA1+ trans youth, much more information is needed to understand the physical and hormonal considerations for youth and their families facing difficult decisions like the ones in this case. For medical professionals and families interested in learning more about the ethical considerations during this decision-making process, the authors put out an excellent concurrent piece, available here.


For the full case report in LGBT Health, go to: https://www.liebertpub.com/doi/pdf/10.1089/lgbt.2017.0148

Our thoughts are with the youth, their family and their medical team as they grieve and wade through more incredibly difficult decisions.