Sex and Gender Identification and Implications for Disability Evaluation (2024)
Chapter: 2 Clinical Conceptions of Sex and Gender
2
Clinical Conceptions of Sex and Gender
This committee was tasked with examining contemporary understandings of sex and gender as applied in clinical practice and implications for the work of the Social Security Administration (SSA). To accomplish this task, the committee determined that an essential first step would be to provide background on the medical definitions of sex and gender, which serve as the basis of self-identification, sex-specific medical evaluations, sex-specific disease risks, and appropriate therapeutic interventions, particularly as relevant for disability evaluation. Elsewhere in this report, the committee describes how and when sex and gender data are collected and used in the clinical practice of medicine as reflected in the health record, whether electronic or historically documented on paper (refer to Chapter 3 for a detailed discussion of these topics). The committee strongly believes that these complexities are relevant for how certain conditions are diagnosed; how laboratory results are derived and interpreted; and, in the case of applicants for SSA disability benefits who are transgender and gender diverse (TGD) or have variations in sex traits (VSTs), how disability determinations are made. Unfortunately, some terms are used interchangeably and others have multiple definitions, likely creating hurdles in this process.
What follows are the range of terminologies currently accepted by the medical community, which can serve as a reference point for SSA. In the tables below, the committee presents a main term (a term that is more commonly used in clinical settings today) along with its definition, as well
as a range of alternative, similar, and synonymous terms. The committee presents terms and definitions organized in the following categories:
- Sex and gender definitions
- Gender identity terms
- Terms for individuals with variations in sex traits
- Sexual orientation terms
- Legal and administrative terms
- Diagnosis, care, and treatment terms
As the body of possible terminology that may be used in referring to sex and gender is substantial, the committee developed six guiding principles to inform and focus this work. Following the presentation of terms, the committee offers a discussion of these guiding principles—including a discussion of why terminology presented centers on those terms commonly used in the clinical practice of medicine (as opposed to terminology in common usage in various social contexts) and why the committee chose to include some terminology and language that may be considered outdated or offensive. The committee intends for the discussion of these guiding principles to further inform understanding of how various terminology related to sex and gender is relevant for disability determinations.
SEX AND GENDER DEFINITIONS
Table 2-1 presents definitions of sex and gender and related terms as commonly used in clinical practice and within medical records. While these definitions attempt to define and clarify concepts, the committee calls to SSA’s attention that terms related to sex and gender are commonly conflated or used interchangeably within medical records and different clinicians and patients may use the same word to mean different things.
GENDER IDENTITY TERMS
Table 2-2 offers common gender identity terms that may be found in medical records, including some outdated terms that may still be in use by certain providers or communities. Where used appropriately within the medical record, these terms may describe people with TGD identity. The committee recognizes that TGD people may define their gender identity in numerous ways. For the purposes of this report, whenever the term “transgender and gender diverse” or “TGD” is used, the committee intends for it to encompass all of the alternative terms listed under the definition of “transgender and gender diverse” in Table 2-2.
TABLE 2-1 Sex and Gender Terms Commonly Found in Medical Records
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Sex | The biological components, including anatomical and physiological traits, largely related to sexual reproduction. Not all components align for all people. |
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| Gender | A multidimensional construct that links language with social and cultural expectations about status, characteristics, and behavior that are supposedly associated with sex traits. | |
| Male | A term identifying individuals who are typically capable of producing sperm for fertilizing ova. Males typically have XY chromosomes. Not everyone who is male has all the traits (e.g., chromosomes, hormone prevalence, external and internal anatomy) that are typically defined as male. |
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| Female | A term identifying individuals who typically have ovaries and produce eggs. Females typically have XX chromosomes. Not everyone who is female has all the traits (e.g., chromosomes, hormone prevalence, external and internal anatomy) that are typically defined as female. |
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| Sex recorded at birth | The sex recorded on the original birth certificate (based on appearance of external genitals observed at birth by physical exam). |
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| Sex of rearing | The sex assigned to a child at birth, most often based on the appearance of the child’s external genital anatomy. Traditionally, sex of rearing is assigned as “male” or “female,” although in some geographic regions, there is the option of “X.” Assigned sex of rearing becomes the sex recorded on birth certificates and medical records. |
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| When a child is born with atypical genitalia, there may be a delay in assigning sex of rearing until the child’s condition or diagnosis is better understood. Through a shared decision-making process between a multidisciplinary care team and the child’s parents/guardians/caregivers, the goal is to select a sex of rearing that has the greatest likelihood of matching gender identity in adulthood. |
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Gender marker | Designation of “male” (M) “female” (F) or other (X) on a document, including on the original birth certificate. Depending on the document, this marker may represent an individual’s sex recorded at birth or gender identity and a designation of “X,” where present on records, may be defined in different ways. |
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| Gender identity | Used by individuals to label themselves and their internal sense of themselves. One’s gender identity can be the same as or different from one’s sex recorded at birth. |
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| Gender expression | One’s mannerisms and appearance—including through behavior, clothing, body characteristics, or voice—that are, in a given culture, associated with masculinity or femininity. | |
| Gender attribution | The process through which others assign a gender to a person, with or without knowledge of that person’s sex recorded at birth or gender identity. |
TERMS FOR INDIVIDUALS WITH VARIATIONS IN SEX TRAITS
For the purposes of this report, whenever the term “variations in sex traits”1 or “VSTs” is used, the committee intends for it to encompass all of the alternative terms listed in Table 2-3, along with the diagnostic terms listed in Table 2-6 and other specific conditions described in detail in Chapter 7. Table 2-3 offers a definition of VSTs along with several alternative terms that may be common in clinical use or preferable to certain communities. The committee acknowledges that the umbrella of VSTs encompasses a great diversity of conditions, traits, and variations, all of which may not be included in this table. In addition, sexual orientation
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1 The committee uses the term “variations in sex traits” (VSTs) for this report to describe individuals with variations in development of the reproductive system (sex determination and sex development). The term “differences of sex development” (DSD) is commonly used in medical records and in the medical literature. However, some patients and clinicians consider the term DSD to be inaccurate and distasteful. “Intersex” is another commonly used term, but some individuals take issue with the notion that their reproductive anatomy falls between the binary and question this terminology. “Variations in sex traits,” therefore, is intended to encompass all variations in reproductive tract development while being attentive to patient lived experience. However, the committee acknowledges that stakeholders have different and varied opinions on appropriate terminology and, like other terminology in this report, terminology is likely to evolve over time.
TABLE 2-2 Gender Identity Terms Commonly Found in Medical Records
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Transgender and gender diverse (TGD) | Umbrella term for people whose gender identity differs from what is typically associated with their sex recorded at birth. Not all transgender individuals seek treatment by health care providers. |
|
| Gender fluid | Describes a person whose gender identity is not fixed. A person who is gender fluid may feel like a mix of more than one gender, but may feel more aligned with a certain gender some of the time, another gender at other times, both genders sometimes, and sometimes no gender at all. |
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| Gender expansive | Describes a person with a wider, more flexible range of gender identity and/or expression than is typically associated with the binary gender system. Often used as an umbrella term when referring to people still exploring the possibilities of their gender expression and/or gender identity. |
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| Agender | Describes a person who identifies as having no gender, or who does not experience gender as a primary identity component. |
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Two-Spirit | Describes a person who embodies both a masculine and a feminine spirit. This is a culture-specific term used among some Native American, American Indian, and First Nations people to describe their gender and/or spiritual identity (this term may also describe sexual orientation). | |
| Cisgender | Describes a person whose sex and gender identities match the sex recorded at birth. |
|
| Pronouns | The self-defined words to be used when others refer to a person in lieu of their name. Examples include “he/him/his/himself,” “she/her/hers/herself,” and “they/them/theirs/themselves.” |
and gender identity (SOGI) data collection within electronic health records (EHRs) does not typically include VST categories, so VSTs may be indicated by various diagnostic codes (see Table 2-6). However, these codes do not represent every known VST or every VST community. There are more than 30 medical terms for specific combinations of VSTs, and every person with a VST is unique.
Table 2-3 includes terms found in medical records; some terms, including “hermaphrodite” and “pseudohermaphrodite,” are now considered harmful and pejorative, and should be avoided today.
TABLE 2-3 Terms Related to Variations in Sex Traits Commonly Found in Medical Records
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Variations in sex traits (VSTs) | People with VSTs are born with a variety of differences in their sex traits and reproductive anatomy. The diversity of these variations is evident in the physical differences in external genitalia, chromosome composition, gonadal differentiation, internal sex organs, hormone production, hormone response, and/or development of secondary sex traits. This can be labeled as “phenotypic heterogeneity.” |
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SEXUAL ORIENTATION TERMS
Along with terms related to gender identity, sexual orientation terms are frequently included in SOGI data fields within EHR systems. As described below in the discussion of guiding principles, terms related to sexual orientation are often used interchangeably with gender identity terms. Therefore, the committee believes it is helpful to define and clarify these constructs separately. Table 2-4 presents various sexual orientation terms commonly found in medical records.
TABLE 2-4 Sexual Orientation Terms Commonly Found in Medical Records
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Sexual orientation | An individual’s identity, attraction, behavior and emotional attachment to another person. Gender identity and sexual orientation are not the same. |
|
| Straight | Sexually oriented only toward people of a different, usually binary, sex. |
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| Lesbian | A woman who is emotionally, romantically, and/or sexually attracted to other women. Women and nonbinary people may use this term to describe themselves. |
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| Gay | A person who is emotionally, romantically, and/or sexually attracted to members of the same sex or gender. Men, women, and nonbinary people may use this term to describe themselves. |
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| Bisexual | A person emotionally, romantically, or sexually attracted to more than one sex, gender, or gender identity, though not necessarily simultaneously, in the same way, or to the same degree. |
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| Asexual | A person who may have little interest in having sex, even though they desire emotionally intimate relationships. Asexuality exists on a spectrum and people may identify somewhere between sexual and asexual. |
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| Sexual and gender minority (SGM) | An umbrella term that encompasses a diverse array of sexual orientations and gender identities, including lesbian, gay, bisexual, and transgender (LGBT), as well as queer/questioning, intersex, and others. |
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| LGBTQ+ | An acronym for “lesbian, gay, bisexual, transgender, and queer” with a “+” sign to recognize the limitless sexual orientations and gender identities. |
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| Two-Spirit | Describes a person who embodies both a masculine and a feminine spirit. This is a culture-specific term used among some Native American, American Indian, and First Nations people to describe their sexual orientation (this term may also describe gender and/or spiritual identity). |
TABLE 2-5 Administrative Terms Commonly Found in Medical Records
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Administrative sex or gender | One’s gender as recorded on an identity document (e.g., passport, driver’s license, birth certificate). |
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LEGAL AND ADMINISTRATIVE TERMS
Although often assumed to be concordant with clinical terms, administrative terminology is often designated for business purposes, such as insurance billing. This type of information is commonly collected during patient registration rather than in the process of clinical care. Patients may not have the opportunity to update this information as frequently as other records, since modification typically requires legal documentation. Also, patients may be embarrassed, frightened, intimidated, or just uncomfortable about sharing their sex and gender identity with the person collecting this information. Within legal and administrative records, sex and gender may be delineated interchangeably and may not align with the patient’s gender identity. Table 2-5 presents legal and administrative terms commonly found in medical records.
DIAGNOSIS, CARE, AND TREATMENT TERMS
Beyond terms related to patient identity and characteristics, other terms related to diagnosis, care, or treatment that may be present in the medical record are relevant for TGD people and people with VSTs. These terms may be present within diagnostic codes or within clinical notes that describe patient care and, importantly, may provide a tool for identifying these populations in the medical record where SOGI data are incomplete or unreliable.
Table 2-6 presents commonly used care and treatment terms and corresponding codes from the International Classification of Diseases and Related Health Problems (10th revision) (ICD-10). The language of diagnostic codes may be used in the medical record despite any patient or provider terminology preferences. For people with VSTs, the wide range of variations is commonly classified into three major categories by the patient’s karyotype: sex chromosomes DSD [difference of sex development], 46,XY DSD, and 46,XX DSD (Hughes et al., 2006). These classifications are presented in Table 2-6, as this classification structure may be present in medical records.
| Term | Definition | Alternative Term(s) |
|---|---|---|
| Gender dysphoria | Distress experienced by some people whose gender identity does not correspond with their sex recorded at birth. The Diagnostic and Statistical Manual of Mental Disorders (DSM-5-TR) includes gender dysphoria as a diagnosis for people whose distress is clinically significant or impairs social, occupational, or other important areas of functioning. The degree and severity of gender dysphoria are highly variable among TGD people. |
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Related ICD-10 codes:
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| Gender transition | The process by which some people strive to align their outward appearance more closely with their internal experience of their gender. Some people socially transition, whereby they might begin dressing, using names and pronouns, and/or being socially recognized as another gender. Others undergo physical transitions in which they modify their bodies through medical interventions. |
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| Gender-affirming hormone treatment and surgery | Medical/surgical interventions performed to align appearance with gender identity. |
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| Retransition | A process through which a person discontinues some or all aspects of gender affirmation. Refers to the stopping, reversal, or other change to transitioning, which could be social (gender presentation, pronouns), medical (hormone therapy), surgical, or legal. |
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| Term | Definition | Alternative Term(s) |
|---|---|---|
| Sex Chromosome DSD | A category of VSTs that includes any condition in which there is an atypical number/arrangement of the sex chromosomes. For example, Turner syndrome (45,X) is a condition that occurs when a child is born with only 45 chromosomes because one of the sex chromosomes (an X chromosome) is missing. The sex chromosome DSD category also includes Klinefelter syndrome (47,XXY), 45,X/46,XY gonadal dysgenesis, and chimeric 46,XX/46,XY individuals. |
Related ICD-10 codes:
|
| 46,XY DSD | Children born with XY chromosomes (46,XY) usually develop typical male sex characteristics. However, some children born with one X and one Y chromosome have underdeveloped gonads or cannot produce or respond to sex hormones to develop the typical male physical characteristics. Individuals with 46,XY DSD encompass the greatest diversity in diagnoses. This category includes individuals with genetic variants involved in testicular differentiation, androgen biosynthesis, and androgen action. Common VSTs in this category include androgen insensitivity syndrome, 46,XY gonadal dysgenesis, 5-alpha reductase deficiency, penoscrotal hypospadias, and persistent Müllerian duct syndrome. |
Related ICD-10 codes:
|
| Term | Definition | Alternative Term(s) |
|---|---|---|
| 46,XX DSD | Children born with two X chromosomes (46,XX) usually develop typical female physical sex characteristics. However, some children born with two X chromosomes were exposed before birth to excess male sex hormones that led to genitals that appear atypical. Individuals with 46,XX DSD may have aberrant ovarian development and typical female external genitalia at birth; they typically present during the adolescent years with delayed onset of female puberty. Another frequent cause of 46,XX DSD is classic congenital adrenal hyperplasia, a group of autosomal recessive disorders associated with impaired adrenal cortisol biosynthesis. The most common form is 21-hydroxylase deficiency due to deleterious variants in the 21-hydroxylase (CYP21A2) gene. |
Related ICD-10 codes:
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| Anatomical inventory | A structured form that tracks the presence or absence of a patient’s reproductive organs, as well as any surgical history relevant to those organs. The inventory can be integrated into the electronic health record and can help guide preventive health screenings and postsurgical care plans. |
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NOTE: There are many more ICD-10 codes related to various VST diagnosis. A full list of these codes is presented in Chapter 3. DSD = difference of sex development; ICD = International Classification of Diseases and Related Health Problems (10th revision); TGD = transgender and gender diverse; VST = variation in sex traits.
SOURCES: CDC, 2024; Kohva et al., 2018.
GUIDING PRINCIPLES
The body of terminology that may be used in referring to sex and gender identity and TGD populations and populations with VSTs is substantial. Hence, the committee developed six guiding principles to inform and focus terminology and its definitions.
(1) Terms commonly used in the clinical practice of medicine are most relevant to SSA for determining gender identity and other relevant biology of disability applicants. Medical records, clinician reports, and test results are a primary source of information used by SSA to determine disability status. Therefore, in considering which commonly used terms to bring forward to SSA, it is important to ground those terms in the context of the sources of information available to SSA (e.g., the medical record). Accordingly, this
chapter does not include sex and gender identity terms that are more likely to be used in a social or political context, or definitions and concepts that may be considered aspirational (what terminology should look like in an ideal world). Rather, the focus here is on terminology likely to be found in medical records today and definitions of those terms used currently in clinical practice.
(2) Most contemporary electronic health records (EHRs) contain fields to capture sexual orientation and gender identity (SOGI) data, although mandates to collect these data are not widely in place. Most EHR systems in the United States have the capacity to record SOGI data as the result of a federal requirement for EHR developers and vendors to enable patients and providers to record SOGI data in the EHR (HHS, 2015). As described in detail in Chapter 3, however, while EHRs may have data fields with which to capture SOGI data, there is no mandate for providers or health care institutions to collect these data, and there are many systemic barriers to such data collection. As a result, health care providers and systems routinely fail to collect and record SOGI data (Goldhammer et al., 2018, 2022; Liu et al., 2023; May et al., 2023).
When available and used, SOGI data collected in medical records may provide SSA with important data to inform decision making for TGD applicants and applicants with VSTs. At this time, however, given incomplete data collection, SOGI data cannot be used as a sole reference point in disability determinations. Despite these limitations, the committee expects the collection of SOGI data in medical records to continue to expand and evolve over time. For this reason, the committee sought to capture and provide examples of SOGI terminology in current use within medical records.
(3) Diagnostic codes may have limited utility in helping SSA understand the sex and gender of disability applicants. For some applicants, however, diagnostic codes provide indicators of sex and gender that may not be captured elsewhere. The ICD, a health care classification system of diagnostic codes for diseases, diagnoses, and procedures, provides a uniform way of collecting and maintaining patient data. These codes are imbedded within EHRs and used by health care systems to document patient care and seek insurance reimbursement. Several ICD-10 codes relate to gender dysphoria and VSTs; Chapter 3 describes these ICD-10 codes in detail, along with the coming reconceptualization and reorganization of diagnostic codes under ICD-11 and codes related to social determinants of health.
While the committee notes that ICD codes may not always be used or may be used incorrectly, they may serve to document patient characteristics, particularly where the SOGI data captured in EHRs do not include sufficient categories to identify TGD people or people with VSTs. For this reason, the committee sought to capture relevant ICD codes in current use in the definitions presented in this chapter.
(4) Given the limitations in data collection using fields and diagnostic codes imbedded in medical records, clinical notes may capture additional dimensions of patient identity, experience, and care. Narrative clinical notes can serve as an important source of patient health information, including SOGI data and information related to health care and therapeutic interventions for TGD people and people with VSTs, capturing additional dimensions related to patient identity, experience, and care that provide important context for any disability application. Recognizing that expression of gender identity may be fluid, malleable, and inconsistent over time, review of the medical record can clarify an individual person’s trajectory with respect to gender identity and any gender-affirming care sought over time. Indeed, where health care providers do not utilize SOGI data collection fields within the medical record or do not categorize care using current ICD diagnostic codes, clinical notes may be the only source of information indicating gender identity, gender-affirming care, or VSTs.
Although SSA views an applicant’s record and need for disability benefits at a specific moment in time, for certain conditions—as described in chapters of this report related to pulmonary function (chapter 8), growth failure (chapter 9), and kidney function (chapter 10)—it is important to understand whether a person utilized gender-affirming hormone therapy, and, if so, whether they utilized this care during puberty or in adulthood. These details may impact clinical interpretation of key measurements that indicate disability; therefore, understanding this care trajectory is important for disability adjudication. Similarly, it is important to know sex recorded at birth for certain measurements utilized in SSA’s Listing of Impairments, and narrative clinical notes may illuminate the unique trajectory an applicant with a VST has had with determining their sex (e.g., that sex was assigned incorrectly at birth, and, therefore, sex as recorded in birth records is incorrect). Such details are not captured in standard SOGI data collection fields within the medical record. Therefore, the committee determined that it is important to define for SSA additional terms beyond the basic SOGI demographic fields or diagnostic codes found in medical records.
(5) Given that gender identity and sexual orientation can sometimes be conflated or used interchangeably in clinical settings, it is also important to define terms related to sexual orientation. The statement of task does not specifically ask for definitions and terms related to sexual orientation. However, the committee finds that it should not leave sexual orientation terminology and definitions out of this report because, in clinical settings, gender and sexual identities can often be conflated, confused, or misconstrued. Patients may be assumed to be TGD when they do not fit into stereotypical gender roles, and clinicians may document patients as TGD when they may instead define themselves as gay or lesbian. The opposite may also be true, with health care providers believing a TGD person is
actually a cisgender person who is gay or lesbian. Defining certain terms related to sexual orientations should enable SSA to separate and clarify these concepts.
(6) Health care providers and patients use a wide range of terminology, and it is important for SSA to understand that range, along with the fluidity of terms over time. By their nature, narrative, free-text clinical descriptions are not uniform, and the language and descriptions found within medical records will vary greatly, as not all health care providers use the same terminology, and not all patients use the same language when describing themselves or their experiences. Choice of terminology can vary with age, nationality, sex recorded at birth, life experiences, and educational attainment (Carrier et al., 2020; Michaels et al., 2017; Panfil, 2020; Sloboda et al., 2018; Suen et al., 2020; Walker, 2020). Medical records also may contain outdated terminology and language that was previously utilized and now considered to be pejorative and disparaging. Older medical records may still be relevant to a disability adjudication, particularly for people with VSTs, despite containing outdated language that is considered offensive by today’s standards. For these reasons, the committee believes it is important to present a wide range of possible gender identity terms and diagnostic categories so that SSA can search for this helpful information in medical records or elsewhere on disability application forms. Hence, the tables presented above offer alternative, similar, and synonymous terms—that may include some outdated terms—with the intent of capturing the range of nomenclature that could be present in medical records received by SSA.
The committee anticipates that terms presented here will change over time, as language and popular culture evolve. Terms once common may become outdated; terms once offensive may become preferred. New terms come into the lexicon and eventually become conventional in clinical care. The committee acknowledges and emphasizes to SSA this fluidity of terminology.
SUMMARY OF KEY POINTS
This chapter offers a range of terms and definitions that may be present in medical records and relevant for people with TGD or VST lived experience or identity. Disability adjudicators may need to become aware of these many terms for appropriate understanding of the characteristics of disability applicants. Further chapters in this report describe in greater depth why these concepts may matter for disability evaluation.
Although they are the primary source of information for SSA, medical records may not accurately reflect the current status of a disability applicant’s gender identity and/or other biology. The committee acknowledges the reality of what medical records contain, where SOGI information may be sparse or inaccurate or difficult to ascertain within clinical notes.
While most EHRs have capabilities to collect SOGI data, many institutions do not activate the SOGI fields and do not collect these data. And even when these fields are “turned on,” patients may have difficulty responding to questions as asked, or the fields may not allow for adequate responses. Within written portions of the medical record, health care providers may conflate or confuse sex recorded at birth, gender identity, anatomy, and sexual orientation in a patient’s medical history or fail to record these data entirely. Furthermore, even where medical records contain some level of SOGI data, these data may not be accurate for a particular patient at a particular point in time, as patients may come to understand their sex or gender identity as different from that previously recorded in the medical record (or previously recorded in disability applications). For these many reasons, the medical record may not accurately reflect the current status of a disability applicant’s sex or gender identity.
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