Note:  For ease of finding resources, I have occasionally included Amazon links to books, but encourage book rental from libraries and  purchase from independent book sellers. Amazon links are not affiliate links and I do not profit from purchases accessed via this website. Where articles or other resources are relevant to  more than one section, they may be included in both for ease of navigation. Current practice articles are included not because I endorse them but rather to represent the state of current practice. For instance, many data models related to sex and gender are flawed, but I have included these papers for reference.

Healthcare and Research Relevant TGSD Theories

Konnelly, L. (2021). Both, and: Transmedicalism and resistance in non-binary narratives of gender-affirming care. Toronto Working Papers in Linguistics, 43(1). https://doi.org/10.33137/twpl.v43i1.35968 

Bradford, N.J., Syed, M. Transnormativity and Transgender Identity Development: A Master Narrative Approach. Sex Roles 81, 306–325 (2019). https://doi.org/10.1007/s11199-018-0992-7 

Linander I, Lundberg T, Alm E. The gender minority stress model and/or cisnormativity? The need for pluralistic theoretical perspectives in improving trans health and medicine. Soc Sci Med. 2024 Jun;351:116957. doi: 10.1016/j.socscimed.2024.116957. Epub 2024 May 9. PMID: 38749253.

TGSD Inclusion: Workplaces (broadly)

More resources coming soon

TGSD Inclusion, Scientific and Clinical Education Settings and Workplaces

Genetics and genetic counseling

O’Sullivan, L., Zayhowski, K., Hoffman, E., & Carmichael, N. (2023). A qualitative study of LGBTQIA+ genetic counselors' experiences while applying to graduate school. Journal of Genetic Counseling, 32, 1200–1212. https://doi.org/10.1002/jgc4.1760

McGruder, C., Erwin, D. J., Glanton, E., Johnson, S., & Whynot, S. (2023). The GC Immersive: Patching the pipeline with genetic counseling experiences for all. Journal of Genetic Counseling, 32, 1330–1336. https://doi.org/10.1002/jgc4.1781 

Chu, V., Zayhowski, K., Collin, C.-R., & Carmichael, N. (2024). A qualitative study exploring LGBTQ genetic counseling students' relationships with peers and faculty in graduate school. Journal of Genetic Counseling, 33, 329–340. https://doi.org/10.1002/jgc4.1724

Other clinical settings

Perchik JD, Maxfield C, Mills M, Agarwal A, Hull NC, Darrow A, Wang M, Cooke E, Seekins J, Marx M, Wassef H, Gould J, Grimm L. Status of LGBTQ+ inclusion: Multi-institution Assessment of US Radiology Residencies. J Am Coll Radiol. 2024 Aug 29:S1546-1440(24)00700-2. doi: 10.1016/j.jacr.2024.08.008. Epub ahead of print. PMID: 39216783.

Torres Acosta MA, Chandra S, Li S, Yoon E, Selgrade D, Quinn J, Ardehali H. The impact of underrepresented minority or marginalized identity status on training outcomes of MD-PhD students. BMC Med Educ. 2023 Jun 8;23(1):428. doi: 10.1186/s12909-023-04399-7. PMID: 37291579; PMCID: PMC10251672.

Schoenfeld D, Ingram J, Wiederhon J, Joice GA, Badalato GM. Perceived Barriers Among Underrepresented and Historically Marginalized Medical Students Pursuing a Career in Urology. Urology. 2023 Oct;180:59-65. doi: 10.1016/j.urology.2023.05.043. Epub 2023 Jul 7. PMID: 37422135.

More resources coming soon!

TGSD Inclusion, Scientific Studies and Medical Practice

Sex and Gender Measures and Terminology: Current practice, patient/participant feedback, and recommendations for the future

Bland, H. T., Gilmore, M. J., Andujar, J., Martin, M. A., Celaya-Cobbs, N., Edwards, C., Gerhart, M., Hooker, G. W., Kraft, S. A., Marshall, D. R., Orlando, L. A., Paul, N. A., Pratap, S., Rosenbloom, S. T., Wiesner, G. L., & Mittendorf, K. F. (2024). Conducting inclusive research in genetics for transgender, gender-diverse, and sex-diverse individuals: Case analyses and recommendations from a clinical genomics study. Journal of  Genetic Counseling, 33, 772–785. https://doi.org/10.1002/jgc4.1785

Asquith A, Sava L, Harris AB, Radix AE, Pardee DJ, Reisner SL. Patient-centered practices for engaging transgender and gender diverse patients in clinical research studies. BMC Med Res Methodol. 2021 Oct 1;21(1):202. doi: 10.1186/s12874-021-01328-4. PMID: 34598674; PMCID: PMC8487157. 

Bauer GR, Braimoh J, Scheim AI, Dharma C. Transgender-inclusive measures of sex/gender for population surveys: Mixed-methods evaluation and recommendations. PLoS One. 2017 May 25;12(5):e0178043. doi: 10.1371/journal.pone.0178043. PMID: 28542498; PMCID: PMC5444783.

Puckett JA, Brown NC, Dunn T, Mustanski B, Newcomb ME. Perspectives from Transgender and Gender Diverse People on How to Ask About Gender. LGBT Health. 2020 Aug-Sep;7(6):305-311. doi: 10.1089/lgbt.2019.0295. Epub 2020 Jun 26. PMID: 32598211; PMCID: PMC7475085.

Suen LW, Lunn MR, Katuzny K, Finn S, Duncan L, Sevelius J, Flentje A, Capriotti MR, Lubensky ME, Hunt C, Weber S, Bibbins-Domingo K, Obedin-Maliver J. What Sexual and Gender Minority People Want Researchers to Know About Sexual Orientation and Gender Identity Questions: A Qualitative Study. Arch Sex Behav. 2020 Oct;49(7):2301-2318. doi: 10.1007/s10508-020-01810-y. Epub 2020 Sep 1. PMID: 32875381; PMCID: PMC7497435.

Bauer GR. Sex and Gender Multidimensionality in Epidemiologic Research. Am J Epidemiol. 2023 Jan 6;192(1):122-132. doi: 10.1093/aje/kwac173. PMID: 36193856; PMCID: PMC9619685.

Makhoul AT, Morrison SD, Mundra LS, Kaoutzanis C, Satterwhite T, Winocour JS, Al Kassis S, Drolet BC. Improving Gender-Affirming Surgery Terminology: A Multicenter Patient Survey. Ann Plast Surg. 2022 Jun 1;88(5 Suppl 5):S478-S480. doi: 10.1097/SAP.0000000000003122. Epub 2022 Feb 18. PMID: 35690942.

Albert K, Delano M. Sex trouble: Sex/gender slippage, sex confusion, and sex obsession in machine learning using electronic health records. Patterns (N Y). 2022 Aug 12;3(8):100534. doi: 10.1016/j.patter.2022.100534. PMID: 36033589; PMCID: PMC9403398.

Alpert AB, Ruddick R, Manzano C. Rethinking sex-assigned-at-birth questions. BMJ. 2021 May 24;373:n1261. doi: 10.1136/bmj.n1261. PMID: 34031025.

Dunne MJ, Raynor LA, Cottrell EK, Pinnock WJA. Interviews with Patients and Providers on Transgender and Gender Nonconforming Health Data Collection in the Electronic Health Record. Transgend Health. 2017 Feb 1;2(1):1-7. doi: 10.1089/trgh.2016.0041. PMID: 28861543; PMCID: PMC5367482.

Karkazis K. The misuses of "biological sex". Lancet. 2019 Nov 23;394(10212):1898-1899. doi: 10.1016/S0140-6736(19)32764-3. Epub 2019 Nov 21. PMID: 31982044.

Kronk CA, Everhart AR, Ashley F, Thompson HM, Schall TE, Goetz TG, Hiatt L, Derrick Z, Queen R, Ram A, Guthman EM, Danforth OM, Lett E, Potter E, Sun SED, Marshall Z, Karnoski R. Transgender data collection in the electronic health record: Current concepts and issues. J Am Med Inform Assoc. 2022 Jan 12;29(2):271-284. doi: 10.1093/jamia/ocab136. PMID: 34486655; PMCID: PMC8757312.

Grasso C, Goldhammer H, Thompson J, Keuroghlian AS. Optimizing gender-affirming medical care through anatomical inventories, clinical decision support, and population health management in electronic health record systems. J Am Med Inform Assoc. 2021 Oct 12;28(11):2531-2535. doi: 10.1093/jamia/ocab080. PMID: 34151934; PMCID: PMC8510278.

Guss CE, Eiduson R, Khan A, Dumont O, Forman SF, Gordon AR. "It'd Be Great to Have the Options There": A Mixed-Methods Study of Gender Identity Questions on Clinic Forms in a Primary Care Setting. J Adolesc Health. 2020 Oct;67(4):590-596. doi: 10.1016/j.jadohealth.2020.03.030. Epub 2020 May 10. PMID: 32402797.

McClure RC, Macumber CL, Kronk C, Grasso C, Horn RJ, Queen R, Posnack S, Davison K. Gender harmony: improved standards to support affirmative care of gender-marginalized people through inclusive gender and sex representation. J Am Med Inform Assoc. 2022 Jan 12;29(2):354-363. doi: 10.1093/jamia/ocab196. Erratum in: J Am Med Inform Assoc. 2022 Jan 12;29(2):411. doi: 10.1093/jamia/ocab255. PMID: 34613410; PMCID: PMC8757317.

See also, erratum in: McClure RC, Macumber CL, Kronk C, Grasso C, Horn RJ, Queen R, Posnack S, Davison K. Corrigendum to: Gender harmony: improved standards to support affirmative care of gender-marginalized people through inclusive gender and sex representation. J Am Med Inform Assoc. 2022 Jan 12;29(2):411. doi: 10.1093/jamia/ocab255. Erratum for: J Am Med Inform Assoc. 2022 Jan 12;29(2):354-363. doi: 10.1093/jamia/ocab196. PMID: 34849972; PMCID: PMC8757303.

Baker KE, Compton D, Fechter-Leggett ED, Grasso C, Kronk CA. Will clinical standards not be part of the choir? Harmonization between the HL7 gender harmony project model and the NASEM measuring sex, gender identity, and sexual orientation report in the United States. J Am Med Inform Assoc. 2022 Dec 13;30(1):83-93. doi: 10.1093/jamia/ocac205. PMID: 36288464; PMCID: PMC9748590.

Dusic, E. J., Powers, L. N., Clowes Candadai, S. V., & Fullerton, S. M. (2024). Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people. Journal of Genetic Counseling, 00, 1–8. https://doi.org/10.1002/jgc4.1925

Kronk C, Tran GQ, Wu DTY. Creating a Queer Ontology: The Gender, Sex, and Sexual Orientation (GSSO) Ontology. Stud Health Technol Inform. 2019 Aug 21;264:208-212. doi: 10.3233/SHTI190213. PMID: 31437915.

Kronk CA, Dexheimer JW. Development of the Gender, Sex, and Sexual Orientation ontology: Evaluation and workflow. J Am Med Inform Assoc. 2020 Jul 1;27(7):1110-1115. doi: 10.1093/jamia/ocaa061. PMID: 32548638; PMCID: PMC7647319.

Goldhammer H, Grasso C, Katz-Wise SL, Thomson K, Gordon AR, Keuroghlian AS. Pediatric sexual orientation and gender identity data collection in the electronic health record. J Am Med Inform Assoc. 2022 Jun 14;29(7):1303-1309. doi: 10.1093/jamia/ocac048. PMID: 35396995; PMCID: PMC9196694.

Tuite A, Dalla Piazza M, Brandi K, Pletcher BA. Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity. J Genet Couns. 2020; 29: 435–439. https://doi.org/10.1002/jgc4.1234

Sokkary N, Awad H, Paulo D. Frequency of Sexual Orientation and Gender Identity Documentation After Electronic Medical Record Modification. J Pediatr Adolesc Gynecol. 2021 Jun;34(3):324-327. doi: 10.1016/j.jpag.2020.12.009. Epub 2020 Dec 15. PMID: 33333261.

Thompson HM, Kronk CA, Feasley K, Pachwicewicz P, Karnik NS. Implementation of Gender Identity and Assigned Sex at Birth Data Collection in Electronic Health Records: Where Are We Now? Int J Environ Res Public Health. 2021 Jun 19;18(12):6599. doi: 10.3390/ijerph18126599. PMID: 34205275; PMCID: PMC8296460.

Sequeira GM, Kidd K, Coulter RWS, Miller E, Garofalo R, Ray KN. Affirming Transgender Youths’ Names and Pronouns in the Electronic Medical Record. JAMA Pediatr. 2020;174(5):501–503. doi:10.1001/jamapediatrics.2019.6071 

Burgess C, Kauth MR, Klemt C, Shanawani H, Shipherd JC. Evolving Sex and Gender in Electronic Health Records. Fed Pract. 2019 Jun;36(6):271-277. PMID: 31258320; PMCID: PMC6590954.

Marney HL, Vawdrey DK, Warsame L, Tavares S, Shapiro A, Breese A, Brayford A, Chittalia AZ. Overcoming technical and cultural challenges to delivering equitable care for LGBTQ+ individuals in a rural, underserved area. J Am Med Inform Assoc. 2022 Jan 12;29(2):372-378. doi: 10.1093/jamia/ocab227. PMID: 34791308; PMCID: PMC8757301.

Grasso C, McDowell MJ, Goldhammer H, Keuroghlian AS. Planning and implementing sexual orientation and gender identity data collection in electronic health records. J Am Med Inform Assoc. 2019 Jan 1;26(1):66-70. doi: 10.1093/jamia/ocy137. PMID: 30445621; PMCID: PMC6657380.

Dubin S, Cook TE, Radix A, Greene RE. Sexual Orientation Demographic Data in a Clinical Cohort of Transgender Patients. Appl Clin Inform. 2021 Mar;12(2):222-228. doi: 10.1055/s-0041-1725184. Epub 2021 Mar 17. PMID: 33730758; PMCID: PMC7968987.

Levi D, Vazquez MV, Giussi MV, Esteban S, Baum A. Representation of the Transgender Population in Electronic Health Records: Implementation Strategy in the Public Health Care System of Buenos Aires City. Stud Health Technol Inform. 2019 Aug 21;264:1131-1134. doi: 10.3233/SHTI190402. PMID: 31438101. 

Bosse JD, Leblanc RG, Jackman K, Bjarnadottir RI. Benefits of Implementing and Improving Collection of Sexual Orientation and Gender Identity Data in Electronic Health Records. Comput Inform Nurs. 2018 Jun;36(6):267-274. doi: 10.1097/CIN.0000000000000417. PMID: 29406395.

Chittalia AZ, Marney HL, Tavares S, Warsame L, Breese AW, Fisher DL, Stoppie ME, Coen D, Zikowski KA, Shapiro AW, Vawdrey DK. Bringing Cultural Competency to the EHR: Lessons Learned Providing Respectful, Quality Care to the LGBTQ Community. AMIA Annu Symp Proc. 2021 Jan 25;2020:303-310. PMID: 33936402; PMCID: PMC8075512.

Lau F, Antonio M, Davison K, Queen R, Bryski K. An Environmental Scan of Sex and Gender in Electronic Health Records: Analysis of Public Information Sources. J Med Internet Res. 2020 Nov 11;22(11):e20050. doi: 10.2196/20050. Erratum in: J Med Internet Res. 2021 Jun 4;23(6):e30764. doi: 10.2196/30764. PMID: 33174858; PMCID: PMC7688387.

Frangella J, Otero C, Luna D. Strategies for Effectively Documenting Sexual Orientation and Gender Identity in Electronic Health Record. Stud Health Technol Inform. 2018;247:66-70. PMID: 29677924. 

Donald, C., Ehrenfeld, J.M. The Opportunity for Medical Systems to Reduce Health Disparities Among Lesbian, Gay, Bisexual, Transgender and Intersex Patients. J Med Syst 39, 178 (2015). https://doi.org/10.1007/s10916-015-0355-7 \

Hines NG, Greene DN, Imborek KL, Krasowski MD. Patterns of gender identity data within electronic health record databases can be used as a tool for identifying and estimating the prevalence of gender-expansive people. JAMIA Open. 2023 Jun 24;6(2):ooad042. doi: 10.1093/jamiaopen/ooad042. PMID: 37359949; PMCID: PMC10290553.

Haider A, Adler RR, Schneider E, Uribe Leitz T, Ranjit A, Ta C, Levine A, Harfouch O, Pelaez D, Kodadek L, Vail L, Snyder C, German D, Peterson S, Schuur JD, Lau BD. Assessment of Patient-Centered Approaches to Collect Sexual Orientation and Gender Identity Information in the Emergency Department: The EQUALITY Study. JAMA Netw Open. 2018 Dec 7;1(8):e186506. doi: 10.1001/jamanetworkopen.2018.6506. PMID: 30646332; PMCID: PMC6324335.

Kamen CS, Pratt-Chapman ML, Meersman SC, Quinn GP, Schabath MB, Maingi S, Merrill JK, Garrett-Mayer E, Kaltenbaugh M, Schenkel C, Chang S. Sexual Orientation and Gender Identity Data Collection in Oncology Practice: Findings of an ASCO Survey. JCO Oncol Pract. 2022 Aug;18(8):e1297-e1305. doi: 10.1200/OP.22.00084. Epub 2022 May 23. PMID: 35605183; PMCID: PMC9377687.

Reed GM, Drescher J, Krueger RB, Atalla E, Cochran SD, First MB, Cohen-Kettenis PT, Arango-de Montis I, Parish SJ, Cottler S, Briken P, Saxena S. Disorders related to sexuality and gender identity in the ICD-11: revising the ICD-10 classification based on current scientific evidence, best clinical practices, and human rights considerations. World Psychiatry. 2016 Oct;15(3):205-221. doi: 10.1002/wps.20354. Erratum in: World Psychiatry. 2017 Jun;16(2):220. doi: 10.1002/wps.20433. PMID: 27717275; PMCID: PMC5032510.

Robles R, Real T, Reed GM. Depathologizing Sexual Orientation and Transgender Identities in Psychiatric Classifications. Consort Psychiatr. 2021 May 25;2(2):45-53. doi: 10.17816/CP61. PMID: 39070736; PMCID: PMC11272317.

Alpert AB, Mehringer JE, Orta SJ, Redwood E, Hernandez T, Rivers L, Manzano C, Ruddick R, Adams S, Cerulli C, Operario D, Griggs JJ. Experiences of Transgender People Reviewing Their Electronic Health Records, a Qualitative Study. J Gen Intern Med. 2023 Mar;38(4):970-977. doi: 10.1007/s11606-022-07671-6. Epub 2022 May 31. PMID: 35641720; PMCID: PMC10039220.

Suen LW, Lunn MR, Sevelius JM, Flentje A, Capriotti MR, Lubensky ME, Hunt C, Weber S, Bahati M, Rescate A, Dastur Z, Obedin-Maliver J. Do Ask, Tell, and Show: Contextual Factors Affecting Sexual Orientation and Gender Identity Disclosure for Sexual and Gender Minority People. LGBT Health. 2022 Feb-Mar;9(2):73-80. doi: 10.1089/lgbt.2021.0159. Epub 2022 Jan 21. PMID: 35073205; PMCID: PMC8968837.

Cahill S, Singal R, Grasso C, King D, Mayer K, Baker K, Makadon H. Do ask, do tell: high levels of acceptability by patients of routine collection of sexual orientation and gender identity data in four diverse American community health centers. PLoS One. 2014 Sep 8;9(9):e107104. doi: 10.1371/journal.pone.0107104. PMID: 25198577; PMCID: PMC4157837.

Rullo JE, Foxen JL, Griffin JM, Geske JR, Gonzalez CA, Faubion SS, van Ryn M. Patient Acceptance of Sexual Orientation and Gender Identity Questions on Intake Forms in Outpatient Clinics: A Pragmatic Randomized Multisite Trial. Health Serv Res. 2018 Oct;53(5):3790-3808. doi: 10.1111/1475-6773.12843. Epub 2018 Mar 9. PMID: 29522236; PMCID: PMC6153164.

Mehta S, Waad A, Brooks M, Siegel SD. "I Think There's Only Two Fields for That": Hospital Registrar Attitudes and Practices for Collecting Patient Gender Identity Data. Transgend Health. 2023 Jul 28;8(4):400-403. doi: 10.1089/trgh.2021.0083. PMID: 37525840; PMCID: PMC10387148.

Wolfe HL, Boyer TL, Rodriguez KL, Klima GJ, Shipherd JC, Kauth MR, Blosnich JR. Exploring Research Engagement and Priorities of Transgender and Gender Diverse Veterans. Mil Med. 2023 May 16;188(5-6):e1224-e1231. doi: 10.1093/milmed/usab460. PMID: 34791410.

Genetics and genetic counseling: Research inclusion

Bland, H. T., Gilmore, M. J., Andujar, J., Martin, M. A., Celaya-Cobbs, N., Edwards, C., Gerhart, M., Hooker, G. W., Kraft, S. A., Marshall, D. R., Orlando, L. A., Paul, N. A., Pratap, S., Rosenbloom, S. T., Wiesner, G. L., & Mittendorf, K. F. (2024). Conducting inclusive research in genetics for transgender, gender-diverse, and sex-diverse individuals: Case analyses and recommendations from a clinical genomics study. Journal of Genetic Counseling, 33, 772–785. https://doi.org/10.1002/jgc4.1785

Genetics and genetic counseling: Counselor experience, comfort, knowledge

Valentine, R., Mills, R., Nichols, T., & Doyle, L. (2023). Disclosure and comfort during genetic counseling sessions with LGBTQ+ patients: An updated assessment. Journal of Genetic Counseling, 32, 833–845. https://doi.org/10.1002/jgc4.1692

Zayhowski K, Park J, Boehmer U, Gabriel C, Berro T, Campion M. Cancer genetic counselors' experiences with transgender patients: A qualitative study. J Genet Couns. 2019; 28: 641–653. https://doi.org/10.1002/jgc4.1092

Berro T, Zayhowski K, Field T, Channaoui N, Sotelo J. Genetic counselors’ comfort and knowledge of cancer risk assessment for transgender patients. J Genet Couns. 2019; 29: 342–351. https://doi.org/10.1002/jgc4.1172

Ruderman M, Berro T, Torrey Sosa L, Zayhowski K. Genetic counselors' experiences with transgender individuals in prenatal and preconception settings. J Genet Couns. 2021; 30: 1105–1118. https://doi.org/10.1002/jgc4.1394

Motiff, H., Garcia, K., Zhao, Q., & Petty, E. M. (2024). Use of gender-inclusive language in genetic counseling to optimize patient care. Journal of Genetic Counseling, 00, 1–14. https://doi.org/10.1002/jgc4.1882 

Genetics and genetic counseling: Centered patient experience

Horowitz, K., Zayhowski, K., Palmour, N., Haghighat, D., & Joly, Y. (2024). Enhancing intersex healthcare: A qualitative study of parental perspectives on the role of genetics. Journal of Genetic Counseling, 00, 1–13. https://doi.org/10.1002/jgc4.1905

Horowitz, K., Zayhowski, K., Palmour, N., Haghighat, D., & Joly, Y. (2024). Navigating the disclosure landscape: Parents' perspectives on healthcare professionals' role in supporting intersex children and families. Journal of Genetic Counseling, 00, 1–14. https://doi.org/10.1002/jgc4.1962

Barnes H, Morris E, Austin J. Trans-inclusive genetic counseling services: Recommendations from members of the transgender and non-binary community. J Genet Couns. 2019; 29: 423–434. https://doi.org/10.1002/jgc4.1187

Rolle, L., Zayhowski, K., Koeller, D., Chiluiza, D., & Carmichael, N. (2022). Transgender patients’ perspectives on their cancer genetic counseling experiences. Journal of Genetic Counseling, 31, 781–791. https://doi.org/10.1002/jgc4.1544

Tyrie, D., Oliva, A., Llorin, H., & Zayhowski, K. (2024). Transgender and gender diverse individuals' perspectives on discussions of fetal sex chromosomes in obstetrics care. Journal of Genetic Counseling, 00, 1–14. https://doi.org/10.1002/jgc4.1842

Roth, S., Owczarzak, J., Baker, K., Davidson, H., & Jamal, L. (2024). Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”. Journal of Genetic Counseling, 00, 1–16. https://doi.org/10.1002/jgc4.1867

Ernst, G., Huser, N., Koeller, D. R., Hulswit, B., Bender-Bernstein, H., Muir, S., Brogdon-Soster, E., & Yashar, B. (2023). Learning from our patients: Utilizing the expertise of transgender and/or gender diverse educators to build an inclusive learning cycle. Journal of Genetic Counseling, 32, 1154–1160. https://doi.org/10.1002/jgc4.1762 

Rolf, B. A., Schneider, J. L., Amendola, L. M., Davis, J. V., Mittendorf, K. F., Schmidt, M. A., Jarvik, G. P., Wilfond, B. S., Goddard, K. A. B., & Ezzell Hunter, J. (2022). Barriers to family history knowledge and family communication among LGBTQ+ individuals in the context of hereditary cancer risk assessment. Journal of Genetic Counseling, 31, 230–241. https://doi.org/10.1002/jgc4.1476 

Harkin, C., & Elander, J. (2024). A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY. Journal of Genetic Counseling, 00, 1–15. https://doi.org/10.1002/jgc4.1952 

Other medical care and research: Centered patient experience

Alpert AB, Mehringer JE, Orta SJ, Redwood E, Hernandez T, Rivers L, Manzano C, Ruddick R, Adams S, Cerulli C, Operario D, Griggs JJ. Experiences of Transgender People Reviewing Their Electronic Health Records, a Qualitative Study. J Gen Intern Med. 2023 Mar;38(4):970-977. doi: 10.1007/s11606-022-07671-6. Epub 2022 May 31. PMID: 35641720; PMCID: PMC10039220.

Genetics and genetic counseling: Current clinical practice and inclusion/exclusion

Jamal L, Zayhowski K, Berro T, Baker K. Queering genomics: How cisnormativity undermines genomic science. HGG Adv. 2024 Jul 18;5(3):100297. doi: 10.1016/j.xhgg.2024.100297. Epub 2024 Apr 17. PMID: 38637989; PMCID: PMC11129102.

Dusic, E. J., Powers, L. N., Clowes Candadai, S. V., & Fullerton, S. M. (2024). Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people. Journal of Genetic Counseling, 00, 1–8. https://doi.org/10.1002/jgc4.1925

Bennett, R. L., French, K. S., Resta, R. G., & Austin, J. (2022). Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling, 31, 1238–1248. https://doi.org/10.1002/jgc4.1621

Tuite A, Dalla Piazza M, Brandi K, Pletcher BA. Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity. J Genet Couns. 2020; 29: 435–439. https://doi.org/10.1002/jgc4.1234

Sheehan E, Bennett RL, Harris M, Chan-Smutko G. Assessing transgender and gender non-conforming pedigree nomenclature in current genetic counselors’ practice: The case for geometric inclusivity. J Genet Couns. 2020; 29: 1114–1125. https://doi.org/10.1002/jgc4.1256

Llorin, H., & Zayhowski, K. (2023). The erasure of transgender and intersex identities through fetal sex prediction and genetic essentialism. Journal of Genetic Counseling, 32, 942–944. https://doi.org/10.1002/jgc4.1736

Stevens, C., Llorin, H., Gabriel, C., Mandigo, C., Gochyyev, P., & Studwell, C. (2023). Genetic counseling for fetal sex prediction by NIPT: Challenges and opportunities. Journal of Genetic Counseling, 32, 945–956. https://doi.org/10.1002/jgc4.1703

Kamoun, C., Rossi, W., & Kilberg, M. J. (2023). Ethical concerns surrounding sex prediction using noninvasive prenatal screening from pediatric endocrinologists' perspective. Journal of Genetic Counseling, 32, 937–941. https://doi.org/10.1002/jgc4.1649 

Berro, T., & Zayhowski, K. (2023). Toward depathologizing queerness: An analysis of queer oppression in clinical genetics. Journal of Genetic Counseling, 00, 1–9. https://doi.org/10.1002/jgc4.1819

von Vaupel-Klein AM, Walsh RJ. Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles. J Genet Couns. 2021; 30: 98–109. https://doi.org/10.1002/jgc4.1372

Sacca RE, Koeller DR, Rana HQ, Garber JE, Morganstern DE. Trans-counseling: A case series of transgender individuals at high risk for BRCA1 pathogenic variants. J Genet Couns. 2019; 28: 708–716. https://doi.org/10.1002/jgc4.1046

Sutherland N, Espinel W, Grotzke M, Colonna S. Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults. J Genet Couns. 2020; 29: 625–633. https://doi.org/10.1002/jgc4.1278

Huser, N., Hulswit, B. B., Koeller, D. R., & Yashar, B. M. (2022). Improving gender-affirming care in genetic counseling: Using educational tools that amplify transgender and/or gender non-binary community voices. Journal of Genetic Counseling, 31, 1102–1112. https://doi.org/10.1002/jgc4.1581

Berliner JL, Cummings SA, Boldt Burnett B, Ricker CN. Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes—Practice resource of the National Society of Genetic Counselors. J Genet Couns. 2021; 30: 342–360. https://doi.org/10.1002/jgc4.1374 

Genetic counseling student education

Saunders, G., Carmany, E., & Trepanier, A. (2024). Identifying potential LGBTQIA+ competencies for genetic counseling student training. Journal of Genetic Counseling, 00, 1–14. https://doi.org/10.1002/jgc4.1909

Other medical and clinical education

Rosecrance K, Archibald A, Victor R, Lasso ET, Nore C, Barrios C. Medical Student Perspectives on Sexual and Gender Minority Acceptance in Surgical Specialties and Sexual and Gender Minority Education. J Surg Res. 2023 Sep;289:121-128. doi: 10.1016/j.jss.2023.03.027. Epub 2023 Apr 24. PMID: 37099822.

Karpel HC, Sampson A, Charifson M, Fein LA, Murphy D, Sutter M, Tamargo CL, Quinn GP, Schabath MB. Assessing Medical Students' Attitudes and Knowledge Regarding LGBTQ Health Needs Across the United States. J Prim Care Community Health. 2023 Jan-Dec;14:21501319231186729. doi: 10.1177/21501319231186729. PMID: 37449447; PMCID: PMC10350786.

Gisondi MA, Keyes T, Zucker S, Bumgardner D. Teaching LGBTQ+ Health, a Web-Based Faculty Development Course: Program Evaluation Study Using the RE-AIM Framework. JMIR Med Educ. 2023 Jul 21;9:e47777. doi: 10.2196/47777. PMID: 37477962; PMCID: PMC10403800.

Pratt-Chapman ML, Eckstrand K, Robinson A, Beach LB, Kamen C, Keuroghlian AS, Cook S, Radix A, Bidell MP, Bruner D, Margolies L. Developing Standards for Cultural Competency Training for Health Care Providers to Care for Lesbian, Gay, Bisexual, Transgender, Queer, Intersex, and Asexual Persons: Consensus Recommendations from a National Panel. LGBT Health. 2022 Jul;9(5):340-347. doi: 10.1089/lgbt.2021.0464. Epub 2022 Apr 19. PMID: 35443812; PMCID: PMC9291720.

Pratt-Chapman ML, Phillips S. Health professional student preparedness to care for sexual and gender minorities: efficacy of an elective interprofessional educational intervention. J Interprof Care. 2020 May-Jun;34(3):418-421. doi: 10.1080/13561820.2019.1665502. Epub 2019 Sep 22. PMID: 31544550.

Pratt-Chapman ML. Implementation of sexual and gender minority health curricula in health care professional schools: a qualitative study. BMC Med Educ. 2020 May 6;20(1):138. doi: 10.1186/s12909-020-02045-0. PMID: 32375760; PMCID: PMC7201690.

Pratt-Chapman ML. Learning Outcomes of Diverse Oncology Professionals After the TEAM Cultural Competency Training. J Cancer Educ. 2022 Jun;37(3):662-667. doi: 10.1007/s13187-020-01865-4. Epub 2020 Sep 9. PMID: 32902787; PMCID: PMC9205792.

Cooper RL, Ramesh A, Radix AE, Reuben JS, Juarez PD, Holder CL, Belton AS, Brown KY, Mena LA, Matthews-Juarez P. Affirming and Inclusive Care Training for Medical Students and Residents to Reduce Health Disparities Experienced by Sexual and Gender Minorities: A Systematic Review. Transgend Health. 2023 Jul 28;8(4):307-327. doi: 10.1089/trgh.2021.0148. PMID: 37525832; PMCID: PMC10387161.

Rhodes A, Barbati Z, Tybor D, Louis JS. Knowledge and perceived competence with sexual and gender minority healthcare topics among medical students and medical school faculty. BMC Med Educ. 2023 Dec 8;23(1):928. doi: 10.1186/s12909-023-04849-2. PMID: 38066533; PMCID: PMC10709858.

Other medical care provision and research: Current practice and inclusion/exclusion

Mehta TS, Thompson J, Applegate JM, Wahab RA. Cultural Competence in the Care of LGBTQ+ Patients: A Primer for Breast/Chest Centers. J Breast Imaging. 2023 Jul 28;5(4):473-479. doi: 10.1093/jbi/wbad012. PMID: 38416897.

Kempf AM, Burns ZT, Guss CE, Millington K, Pilcher S, Boyle PJ, Charlton BM, Haas-Kogan DA, Liu KX. Clinical outcomes and considerations of gender-affirming care for transgender and gender-diverse pediatric and young adult patients with cancer. Pediatr Blood Cancer. 2023 Jan;70(1):e29851. doi: 10.1002/pbc.29851. Epub 2022 Jul 7. PMID: 35713118; PMCID: PMC9701144.

Kronk CA, Dexheimer JW. An ontology-based review of transgender literature: Revealing a history of medicalization and pathologization. Int J Med Inform. 2021 Dec;156:104601. doi: 10.1016/j.ijmedinf.2021.104601. Epub 2021 Sep 29. PMID: 34649111.

Ram A, Kronk CA, Eleazer JR, Goulet JL, Brandt CA, Wang KH. Transphobia, encoded: an examination of trans-specific terminology in SNOMED CT and ICD-10-CM. J Am Med Inform Assoc. 2022 Jan 12;29(2):404-410. doi: 10.1093/jamia/ocab200. PMID: 34569604; PMCID: PMC8757305. 

Alpert AB, Gampa V, Lytle MC, Manzano C, Ruddick R, Poteat T, Quinn GP, Kamen CS. I'm not putting on that floral gown: Enforcement and resistance of gender expectations for transgender people with cancer. Patient Educ Couns. 2021 Oct;104(10):2552-2558. doi: 10.1016/j.pec.2021.03.007. Epub 2021 Mar 10. PMID: 33745786; PMCID: PMC9320277.

Alpert AB, Rivers L, Manzano C, Ruddick R, Adams S, Obedin-Maliver J, Harvey RD, Griggs JJ, Operario D. Debunking Sex and Disentangling Gender From Oncology. J Clin Oncol. 2023 Aug 1;41(22):3791-3795. doi: 10.1200/JCO.22.02037. Epub 2023 May 26. PMID: 37235816; PMCID: PMC10860932.

Responses to the Cass Review on the Treatment of Transgender Youth in the United Kingdom

Press Release from the British Medical Association. July 31, 2024. Accessed: Sept 24, 2024

Press Release: Statement from the Endocrine Society. May 8, 2024. Accessed: Sept 24, 2024.

Grijseels, D. M. (2024). Biological and psychosocial evidence in the Cass Review: a critical commentary. International Journal of Transgender Health, 1–11. https://doi.org/10.1080/26895269.2024.2362304

Horton, C. (2024). The Cass Review: Cis-supremacy in the UK’s approach to healthcare for trans children. International Journal of Transgender Health, 1–25. https://doi.org/10.1080/26895269.2024.2328249

McNamara M, Baker K, Connelly K, Janssen  A, Olson-Kennedy J, Pang KC, Scheim A, Turban J,  Alstott A. An evidence-based critique of “The Cass Review” on gender-affirming care for adolescent gender dysphoria. White Paper. Integrity Project. Yale Law School.

American Psychological Association (APA) statement supporting "unobstructed access to health care and evidence-based clinical care for transgender, gender-diverse, and nonbinary children, adolescents, and adults." Accessed Sept 24, 2024.

Noone, C., Southgate, A., Ashman, A., Quinn, É., Comer, D., Shrewsbury, D., … McLamore, Q. (2024, June 11). Critically Appraising the Cass Report: Methodological flaws and unsupported claims. https://doi.org/10.31219/osf.io/uhndk 

Keuroghlian AS, Radix AE. Transgender health research needed. Science. 2024 Aug 23;385(6711):809. doi: 10.1126/science.ads3727. Epub 2024 Aug 22. PMID: 39172821.

Other Resources and Evidence: Experiential epistemologies

Harvey TD. "We're Here, We're Queer, Get Used to It": Advancing LGBTQ+-Inclusive Language in Public Health. Am J Public Health. 2024 Feb;114(2):170-172. doi: 10.2105/AJPH.2023.307529. PMID: 38335477; PMCID: PMC10862209.

Sadlak N. Growing Past Women's Health: Reflections From a Queer Medical Student. Obstet Gynecol. 2023 Aug 1;142(2):424-427. doi: 10.1097/AOG.0000000000005257. Epub 2023 Jul 5. PMID: 37411029; PMCID: PMC10351898.

More resources coming soon

Other Resources and Evidence: The impact of transgender-affirming healthcare on transgender youth and adults

Kristina R. Olson, Lily Durwood, Rachel Horton, Natalie M. Gallagher, Aaron Devor. Gender Identity 5 Years After Social Transition. Pediatrics August 2022; 150 (2): e2021056082. 10.1542/peds.2021-056082

Library of references on the impact of transgender care on transgender well-being. Cornell University Public Policy Research Portal. Accessed: Sept 24, 2024. *This library contains 51 articles, including numerous primary sources. For sake of breadth, these articles  have not been cited additionally here.

Kerry McGregor, John L. McKenna, Coleen R. Williams, Ellis P. Barrera, Elizabeth R. Boskey. (2024) Association of Pubertal Blockade at Tanner 2/3 With Psychosocial Benefits in Transgender and Gender Diverse Youth at Hormone Readiness Assessment. Journal of Adolescent Health, 74 (4): 801-807. https://doi.org/10.1016/j.jadohealth.2023.10.028 

Nolan BJ, Zwickl S, Locke P, Zajac JD, Cheung AS. Early Access to Testosterone Therapy in Transgender and Gender-Diverse Adults Seeking Masculinization: A Randomized Clinical Trial. JAMA Netw Open. 2023 Sep 5;6(9):e2331919. doi: 10.1001/jamanetworkopen.2023.31919. PMID: 37676662; PMCID: PMC10485726. 

Schall TE, Jaffe K, Moses JD. Roles of Randomized Controlled Trials in Establishing Evidence-Based Gender-Affirming Care and Advancing Health Equity. AMA J Ethics. 2024 Sep 1;26(9):E684-689. doi: 10.1001/amajethics.2024.684. PMID: 39250939.

Other Resources and Evidence: Current practice, disparities, and other aspects of transgender inclusion

Grasso C, Goldhammer H, Brown RJ, Furness BW. Using sexual orientation and gender identity data in electronic health records to assess for disparities in preventive health screening services. Int J Med Inform. 2020 Oct;142:104245. doi: 10.1016/j.ijmedinf.2020.104245. Epub 2020 Aug 7. PMID: 32947116; PMCID: PMC9719729.

Pratt-Chapman ML, Alpert AB, Castillo DA. Health outcomes of sexual and gender minorities after cancer: a systematic review. Syst Rev. 2021 Jun 21;10(1):183. doi: 10.1186/s13643-021-01707-4. PMID: 34154645; PMCID: PMC8218456.

Pratt-Chapman ML, Murphy J, Hines D, Brazinskaite R, Warren AR, Radix A. "When the pain is so acute or if I think that I'm going to die": Health care seeking behaviors and experiences of transgender and gender diverse people in an urban area. PLoS One. 2021 Feb 23;16(2):e0246883. doi: 10.1371/journal.pone.0246883. PMID: 33621230; PMCID: PMC7901746.

McKay T, Tran NM, Barbee H, Min JK. Association of Affirming Care with Chronic Disease and Preventive Care Outcomes among Lesbian, Gay, Bisexual, Transgender, and Queer Older Adults. Am J Prev Med. 2023 Mar;64(3):305-314. doi: 10.1016/j.amepre.2022.09.025. Epub 2022 Nov 29. PMID: 36460525; PMCID: PMC10251765.

Tabaac AR, Sutter ME, Wall CSJ, Baker KE. Gender Identity Disparities in Cancer Screening Behaviors. Am J Prev Med. 2018 Mar;54(3):385-393. doi: 10.1016/j.amepre.2017.11.009. Epub 2018 Jan 12. Erratum in: Am J Prev Med. 2018 Dec;55(6):943. doi: 10.1016/j.amepre.2018.08.004. PMID: 29338956.

Erratum in: Ariella R. Tabaac, MS, Megan E. Sutter, PhD, Catherine S.J. Wall, BS, Kellan E. Baker, MA, MPH. Gender Identity Disparities in Cancer Screening Behaviors. Am J Prev Med 2018:54(3):385-393. Am J Prev Med. 2018 Dec;55(6):943. doi: 10.1016/j.amepre.2018.08.004. Erratum for: Am J Prev Med. 2018 Mar;54(3):385-393. doi: 10.1016/j.amepre.2017.11.009. PMID: 30454644.

More resources coming soon!

Other Resources and Evidence: Clinical practice guidelines

WPATH Standards of Care Version 8. Accessed Sept 24, 2024.

Wylie C Hembree, Peggy T Cohen-Kettenis, Louis Gooren, Sabine E Hannema, Walter J Meyer, M Hassan Murad, Stephen M Rosenthal, Joshua D Safer, Vin Tangpricha, Guy G T’Sjoen, Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline, The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 11, 1 November 2017, Pages 3869–3903, https://doi.org/10.1210/jc.2017-01658

Other Resources and Evidence: Methodologies and Ethics

Ashley, F., Tordoff, D. M., Olson-Kennedy, J., & Restar, A. J. (2023). Randomized-controlled trials are methodologically inappropriate in adolescent transgender healthcare. International Journal of Transgender Health, 25(3), 407–418. https://doi.org/10.1080/26895269.2023.2218357 

Donaghy, O. J. E., Cobham, V., & Lin, A. (2024). Screening adolescent transgender-related distress: Gender preoccupation and stability questionnaire demonstrates excellent criterion validity with multi-disciplinary, pediatric gender specialist assessment. International Journal of Transgender Health, 1–9. https://doi.org/10.1080/26895269.2024.2378378 

Skinner, S. R., McLamore, Q., Donaghy, O., Stathis, S., Moore, J. K., Nguyen, T., … Pang, K. C. (2023). Recognizing and responding to misleading trans health research. International Journal of Transgender Health, 25(1), 1–9. https://doi.org/10.1080/26895269.2024.2289318 

Horton, C. (2023). The importance of child voice in trans health research: a critical review of research on social transition and well-being in trans children. International Journal of Transgender Health, 25(3), 389–406. https://doi.org/10.1080/26895269.2023.2295381 

Allen, L. R., Adams, N., Ashley, F., Dodd, C., Ehrensaft, D., Fraser, L., … Veale, J. (2024). Principlism and contemporary ethical considerations for providers of transgender health care. International Journal of Transgender Health, 1–19. https://doi.org/10.1080/26895269.2024.2303462 

See also: 

Castle, E. R., & Klein, A. (2024). Pointing out anti-fat bias in BMI restrictions discourse: Response to Allen et al. (2024), “principlism and contemporary ethical considerations for providers of transgender health care.” International Journal of Transgender Health, 1–3. https://doi.org/10.1080/26895269.2024.2321037 

Allen, L. R., Adams, N., Dodd, C., Ehrensaft, D., Fraser, L., Garcia, M., … Veale, J. (2024). Clarifying our stance on BMI and accessibility in gender-affirming surgery: a commitment to inclusive care and dialogue – a reply to Castle & Klein (2024). International Journal of Transgender Health, 1–4. https://doi.org/10.1080/26895269.2024.2321036 

Ascertainment from EHR data and other clinical databases

Cato KD, Bockting W, Larson E. Did I Tell You That? Ethical Issues Related to Using Computational Methods to Discover Non-Disclosed Patient Characteristics. J Empir Res Hum Res Ethics. 2016 Jul;11(3):214-9. doi: 10.1177/1556264616661611. PMID: 27534587; PMCID: PMC4991620.

Streed CG, King D, Grasso C, Reisner SL, Mayer KH, Jasuja GK, Poteat T, Mukherjee M, Shapira-Daniels A, Cabral H, Tangpricha V, Paasche-Orlow MK, Benjamin EJ. Validation of an administrative algorithm for transgender and gender diverse persons against self-report data in electronic health records. J Am Med Inform Assoc. 2023 May 19;30(6):1047-1055. doi: 10.1093/jamia/ocad039. PMID: 36921287; PMCID: PMC10198536.

Hua Y, Wang L, Nguyen V, Rieu-Werden M, McDowell A, Bates DW, Foer D, Zhou L. A deep learning approach for transgender and gender diverse patient identification in electronic health records. J Biomed Inform. 2023 Nov;147:104507. doi: 10.1016/j.jbi.2023.104507. Epub 2023 Sep 29. PMID: 37778672; PMCID: PMC10687838.

Beltran TG, Lett E, Poteat T, Hincapie-Castillo JM. Computational phenotyping within electronic healthcare data to identify transgender people in the United States: A narrative review. Pharmacoepidemiol Drug Saf. 2024 Mar;33(3):e5732. doi: 10.1002/pds.5732. Epub 2023 Nov 27. PMID: 38009550.

Jasuja GK, de Groot A, Quinn EK, Ameli O, Hughto JMW, Dunbar M, Deutsch M, Streed CG Jr, Paasche-Orlow MK, Wolfe HL, Rose AJ. Beyond Gender Identity Disorder Diagnoses Codes: An Examination of Additional Methods to Identify Transgender Individuals in Administrative Databases. Med Care. 2020 Oct;58(10):903-911. doi: 10.1097/MLR.0000000000001362. PMID: 32925416; PMCID: PMC8010422

Other Resources and Evidence: Population characteristics

Turban JL, Dolotina B, King D, Keuroghlian AS. Sex Assigned at Birth Ratio Among Transgender and Gender Diverse Adolescents in the United States. Pediatrics. 2022 Sep 1;150(3):e2022056567. doi: 10.1542/peds.2022-056567. PMID: 35918512.

TGSD Justice: theory and essays

More resources coming soon

First, it should be noted that language within LGBTQIA2S+ (Lesbian, Gay, Bisexual, Transgender, Queer and Questioning, Intersex, Asexual, and Two Spirit) communities is ever evolving, with the goal to increase specificity and inclusivity of terminology. All information provided on my website is a labor of love, and reflects my own ideas, opinions, and understanding of the present science. I provide this guide because I'm frequently asked to convey the same information to different groups of people on uncompensated time. I have found that having a central resource reference was a time-saving endeavor from my work in the disability inclusivity space, and wished to replicate that approach here. However, because this is a volunteer labor, it may not be perfectly up-to-date with what is an evolving cultural, social, and scientific space. While I welcome feedback, I will implement it as I am able. Now, for some notes on terms of my own invention.

I have been using "TGSD" to stand for transgender, gender, and sex-diverse (TGSD) for a few years now. In my definition this term is relevant to research inclusion criteria, and encompasses any of the following individuals, drawn from NIH definitions of Sexual and Gender Minority (SGM) populations. The definition below is adapted from Bland et al. (2024), on which I was senior author. Note that Bland et al., is published under a CC-BY-NC 4.0 license, which allows for adaptation of the material.

Transgender, gender- and sex-diverse (TSGD) broadly encompasses individuals (1) who are transgender, non-binary, or intersex, (2) whose gender identity does not align with their sex assigned at birth, (3) who have a difference of sex development, or (4) whose gender identity, gender expression, or reproductive development is characterized by non-binary constructs of gender and/or sex. We have included intersex and sex diverse individuals alongside transgender and gender-diverse individuals not because they belong to the same group or have the same needs, but because all of these groups are explicitly excluded by cisgenderist and/or transmedicalist approaches to defining sex- and gender-related constructs in research measures.

This set of terms thus does not include identities related to sexual orientation. It also is not always a useful grouping, as the needs of intersex individuals, individuals with VSC/VSD/DSD, and other sex-diverse populations are frequently quite distinct from those of transgender, non-binary, and other gender-diverse populations. I have used it broadly on this page as my focus is on measures and inclusion of all of these subgroups of individuals.

Thirdly, I have adapted and revised definitions from  Bland et al. (2024), with the help of my co-author Harris Bland and colleague Kim Zayhowski, as part of a feedback response to a request for review on a recent document. I use apply those revised definitions throughout the guidance below, so I include them here for reference, alongside additional definitions adapted from Bland et al. (2024). Note that Bland et al., is published with a 

Definitions

Sex -  A term which is frequently used alone in medical literature, but which can have multiple meanings. We suggest to not use the term “sex” as a standalone term, which suggests a single binary (or trinary, if intersex is included), immutable biologic characteristic, rather than the multivariable, multidimensional nature that the traditional construct of “sex” has proven to have. Sex is more accurately a multimodal construct with each modality expressed along a continuum that should be contextualized in biological and biomedical settings (McLaughlin et al., 2023; Richardson, 2022). Further, we acknowledge that the word sex in and of itself implies a “true biological reality” which contributes to biological essentialism (Ansara & Hegarty, 2014; Kronk et al., 2022; Navidson, 2016) and urge readers to be aware of the many complexities of characteristics we often attribute to a false biological dichotomy of “male” and “female” (Ainsworth, 2015; Ansara & Berger, 2016; Ansara & Hegarty, 2014; Karkazis, 2019). It is important to avoid biological essentialism, and to acknowledge that the single label of “sex” has been harmful in medicine. Instead, we recommend that, wherever possible, researchers explicitly define the type of assessment used to quantify “sex” in their population (e.g., if the field of legal sex from the EHR was used, if ‘sex assigned at birth’ was assessed, if it is sex chromosome composition reported, if the sex-related variable is an admixed variable without a consistently defined source, etc.). See also the 11.12.1.4 Guidance for Reporting Sex and Gender in Research Articles.

Primary sex characteristics - sex-influenced body structures, such as genitals and gonads, involved in reproduction.

Secondary sex characteristics - sex-influenced body characteristics not involved in reproduction, such as the growth of facial hair and breast tissue; may be influenced by exogenous hormones.

Endocrinological sex characteristics – hormones present within a person and associated with the traditional construct of “sex”, which in turn can influence primary and secondary sex characteristic expressions

Hormonal milieu - mixture of endogenous and any exogenous hormonal makeup.

Phenotypic sex - The complex, combinatorial expression of external and internal primary, secondary, and endocrinological (i.e., hormonal) sex characteristics, regardless of underlying chromosomal makeup, based on endogenous and exogenous exposures, which may not be readily represented in binary or variable terms. Phenotypic sex was chosen to represent the actual characteristic makeup of a person in sum, rather than “sex,” which is frequently assumed to be an immutable, binary (or trinary, in the case of considering intersex persons) biological variable. We have chosen phenotypic sex, alongside sex chromosome composition, to better convey the amalagam of biologic traits that are frequently related to sex expression, which are multifactorial and complex, which may be influenced by exogenous exposures (such as to gender-affirming hormone therapy) and which may be expressed upon multiple continua. It is important to recognize the multivariable makeup of an individuals phenotypic sex.  For example, a transgender person who has had a gender-affirming double mastectomy has likely not had the extent of tissue removal performed in a risk-reducing mastectomy, and thus the endogenous expression of breast tissue in this individual is important to their clinical care.

Sex chromosome composition – The sex chromosomes a person possesses (e.g., XX, XY, XXY, etc), which may or may not correlate with other sex-related variables and characteristics. Should not be denoted as “chromosomally male” or “chromosomally female” or otherwise imply “male” or “female.” Instead, use individuals with XX chromosomes, XY chromosomes, etc.

Organ/tissue inventory - A list of all the organs and, in some cases, tissues (e.g., breast tissue) that an individual currently has. For instance, uterus would be removed in a person who has had a hysterectomy. 

Sex assigned at birth - The sex assigned at birth to a neonate by medical personnel, typically based on external genitalia. For United States birth certificates, this was, until recently, limited to the categories of male and female; more states are now allowing a third category on original birth certificates. “Sex assigned at birth” frequently excludes the full representation of intersex individuals and individuals whose sex characteristic expression falls outside of the traditionally represented sex dichotomy of male and female, who may not be identified at birth or whose birth certificates may not reflect their sex characteristics and anatomy (Ainsworth, 2015; Karkazis, 2019). Additionally, sex assigned at birth can be a poor proxy for anatomy and other clinically important characteristics (Ainsworth, 2015; Karkazis, 2019).

Intersex - An adjective used here to describe an individual who meets at least one of the following criteria, prior to any exogenous hormones or surgeries: 1) has a sex chromosome make up of something other than XX (female) or XY (male), 2) has a phenotypic expression of a mixture of both classically considered “male” and “female” primary, secondary, and/or endogenous endocrinological sex characteristics, 3) whose phenotypic expression of primary, secondary, and endogenous endocrinological sex characteristics does not match that expected based on chromosomal makeup. Depending on the phenotype of such a person, they may also refer to their endogenous makeup as a variant, variation, or difference of sex development or characteristic (VSD/VSC/DSD) or use this term in place of intersex. It is important not to conflate intersex individuals and individuals with VSC/VSD/DSD with transgender or nonbinary individuals. While some intersex individuals may identify as transgender or nonbinary, many do not. See also differences of sex development (DSD) and variations in sex characteristics (VSC).

Legal sex - The sex marker on a person’s official government identity documents such as driver’s license, state ID, passports, and/or birth certificates, which may or may not reflect a person’s sex assigned at birth and which may or may not match across documents. Many states within the United States context permit only binary options (i.e., male, female) for this variable. Many EHRs also present only binary options, or trinary options with the third option being “unknown”. Many EHRs document legal sex for billing purposes, and some research datasets may only contain this variable. Sometimes also referred to as “administrative sex.”

Misgender - The act or process of using an incorrect name, pronoun set, or gender marker for a person. 

Gender identity – A person’s innate sense of their gender relative to their societal context. For the purposes of statistical, survey, and health disparities research, gender identity is often reduced to a categorical variable with a limited number of categories such as “man, woman, non-binary;” however, it is critical to note that these classifications allow group comparisons, but gender identity is better represented as a complex construct affected not only by individuals’ internal sense of self but also social context. While some have described gender identity as a spectrum, this description implies a linear spectrum with two extreme points – man and woman – with everyone else falling between these two extremes. Gender identities in many cultures extend into complex identities that are not considered by the communities themselves to fall along a linear spectrum. In the context of the United States, such gender identities may include but are not limited to agender, ambigender, omnigender, etc. Other cultures have genders that may be outside the context of the Western colonial conceptualization of gender, such as gender pluralist societies with more than 2 concepts of gender in their traditional gender framework (e.g., the Bugis people in Indonesia; (Ismoyo, 2020)). When choosing data collection instruments, one must consider if measures designed and/or validated in one cultural context are appropriate for another.

Nonbinary - An umbrella adjective describing an individual whose gender identity does not align with the Western colonial binary social constructs of “man/boy/male” or “woman/girl/female” but rather falls outside of these constructs. Nonbinary individuals may identify as something between man and woman, or they may identify as something outside of or beyond these constructs altogether.

Gender-diverse – An umbrella adjective used to describe individuals whose gender identities do not align with cisgenderistb or colonial conceptualizations of sex and gender; these may include people who do not ascribe to the labels of transgender or nonbinary

Gender dysphoria - The feeling of distress that can occur in people whose gender identity differs from their sex assigned at birth, sex-related physical characteristics, or societally-perceived sex or gender.

Sex-diverse – An adjective used to describe an individual with the characteristics ascribed above to being intersex or having a VSD/DSD but who does not feel comfortable with any of these labels and for whom sex-related genetic makeup or phenotypic expression may have health implications. For example, cisgender women with polycystic ovarian syndrome who do not identify with the labels intersex/VSD/DSD may be considered sex-diverse under this umbrella definition, because they are likely to experience body delegitimizationb and their endogenous hormonal milieu may contribute to health outcomes.