Difficulties of gender affirming treatment in trans women with BRCA1+ mutation: A case report

4区医学 Q3 Nursing

Endocrinologia, Diabetes y Nutricion Pub Date : 2024-03-01 DOI:10.1016/j.endinu.2023.12.006

Ana Piñar-Gutiérrez , Suset Dueñas Disotuar , Irene de Lara-Rodríguez , Sandra Amuedo-Domínguez , Carmen González-Cejudo , José Tejero-Delgado , Miguel Ángel Mangas-Cruz

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Abstract

Gender affirming treatment in transgender women is based on a combination of antiandrogens and estrogens, with the latter maintained over the long term. When prescribing these treatments, we must consider the possibility of developing estrogen-dependent breast cancer. In transgender women, a breast cancer incidence of 4.1 per 100,000 has been estimated, which would increase the risk by 46% in relation to cisgender men but decrease it by 70% in relation to cisgender women. It is known that certain gene mutations such as BRCA1 imply an increased risk of breast cancer, but at present the risk in transgender women with BRCA1 treated with estrogens is not well established. We present the case of a transgender woman with a family history of breast cancer and BRCA1 mutation and the therapeutic decisions made in a multidisciplinary team. Following this case, we review and discuss the published literature.

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BRCA1+ 基因突变的变性女性接受性别平权治疗的困难：病例报告

变性妇女的性别确认治疗以抗雄激素和雌激素的组合为基础，并长期使用后者。在开具这些治疗处方时，我们必须考虑到罹患雌激素依赖性乳腺癌的可能性。据估计，变性女性的乳腺癌发病率为每 10 万人中有 4.1 人患乳腺癌，与同性别的男性相比，风险增加了 46%，但与同性别的女性相比，风险降低了 70%。众所周知，某些基因突变（如 BRCA1）意味着罹患乳腺癌的风险会增加，但目前对患有 BRCA1 的变性女性使用雌激素治疗的风险还没有很好的定论。我们介绍了一位有乳腺癌家族史和 BRCA1 基因突变的变性女性的病例，以及多学科团队做出的治疗决定。随后，我们回顾并讨论了已发表的文献。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrinologia, Diabetes y Nutricion Nursing-Nutrition and Dietetics

CiteScore

2.10

自引率

0.00%

发文量

169

审稿时长

35 days

期刊介绍： Endocrinología, Diabetes y Nutrición is the official journal of the Spanish Society of Endocrinology and Nutrition (Sociedad Española de Endocrinología y Nutrición, SEEN) and the Spanish Society of Diabetes (Sociedad Española de Diabetes, SED), and was founded in 1954. The aim of the journal is to improve knowledge and be a useful tool in practice for clinical and laboratory specialists, trainee physicians, researchers, and nurses interested in endocrinology, diabetes, nutrition and related disciplines. It is an international journal published in Spanish (print and online) and English (online), covering different fields of endocrinology and metabolism, including diabetes, obesity, and nutrition disorders, as well as the most relevant research produced mainly in Spanish language territories. The quality of the contents is ensured by a prestigious national and international board, and by a selected panel of specialists involved in a rigorous peer review. The result is that only manuscripts containing high quality research and with utmost interest for clinicians and professionals related in the field are published. The Journal publishes Original clinical and research articles, Reviews, Special articles, Clinical Guidelines, Position Statements from both societies and Letters to the editor. Endocrinología, Diabetes y Nutrición can be found at Science Citation Index Expanded, Medline/PubMed and SCOPUS.