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Endocrinology - Transgender Health - Fast Facts | NEJM Resident 360

The World Health Organization (WHO) defines gender incongruence as “a marked and persistent incongruence between an individual’s experienced gender and the assigned sex, which often leads to a desire to ‘transition’, in order to live and be accepted as a person of the experienced gender, through hormonal treatment, surgery or other health care services to make the individual’s body align, as much as desired and to the extent possible, with the experienced gender.”

Although estimates are imprecise, survey-based studies estimate that 0.3%–0.5% of adults and 1.2%–2.7% of children and adolescents identify as transgender. The number of children and adolescents seeking gender-affirming medical care also appears to be increasing. For details on transgender care in pediatrics, please refer to the Pediatric Endocrinology rotation guide.

In this section, we review the following:

• Definitions

• Presentation and Assessment

• Endocrine Management

• Surgical Options

• Regular Health Maintenance

• Creating an Affirming Environment

Definitions

Definitions
Sex and gender
Umbrella terms used to reference biologic characteristics, gender identification, and stereotypical behaviors considered male, female, or variation thereof

Gender identity
Internal sense of being male or female or identifying with both or neither

Transgender, transsexual, trans, gender nonbinary, gender incongruent, genderqueer*
Adjectives for persons with gender identity not aligned with sex recorded at birth

Cisgender, nontransgender
Adjectives for persons with gender identity aligned with sex recorded at birth

Gender expression
Ways in which a person communicates gender identity to others

Gender-affirming or gender-confirming hormone treatment and surgery
Medical and surgical interventions for transgender persons performed to align appearance with gender identity

Gender dysphoria
Mental health term that refers to discomfort felt by some persons owing to lack of alignment between gender identity and sex recorded at birth

Sexual orientation
Term that characterizes pattern of romantic or sexual attraction to other people, independent of gender identity

Intersex
Term for conditions in which a person is born with reproductive or sexual anatomy that does not fit typical definitions of female or male. Also known as DSD (differences of sexual differentiation). |

*Some people who identify as nonbinary might use the gender-neutral pronouns they/them/their.

(Adapted with permission from: Care of Transgender Persons. N Engl J Med 2019.)

Presentation and Assessment

• Gender incongruence can be established based on history (patient report) alone.

• Due to high rates of discrimination, marginalization, and stigmatization, transgender individuals are at higher risk of experiencing adverse social determinants of health as well as mental health concerns (e.g., depression, anxiety, and post-traumatic stress disorder). As a result, the medical history should include details of sexual history, social history, and mental health history.

• If a mental health disorder is suspected or identified, referral to a mental health provider for comanagement is appropriate.

• Because hormones and surgery can reduce fertility, patients should be assessed for their desire for fertility and interest in exploring fertility preservation.

Endocrine Management

• Children and adolescents:

• • Pharmacologic management has no role in prepubertal children.

  • In early puberty, a common approach is to postpone puberty with the use of a gonadotropin-releasing hormone (GnRH) agonist until the adolescent is older.

• Adults:

• • Not every patient with gender incongruence wants or needs hormones; when used, the goal of hormone therapy is to help the patient affirm their gender identity by promoting a physical appearance that is more congruent with their gender identity.

  • • To feminize the body, estrogen is prescribed, usually with a second medication to block or lower testosterone.

    • To masculinize the body, the standard approach is to prescribe testosterone.

    • While on hormonal therapy, typical follow-up is every 3 months to ensure that the patient is doing well and progressing phenotypically, hormones levels are at target, and there is no laboratory evidence of side effects.

Hormone-Treatment Regimens for Transgender Persons

(Source: Care of Transgender Persons. N Engl J Med 2019.)

Surgical Options

Physical changes from hormones are slow, and the full effect can take upward of 3 years. Even when fully established, patients may be dissatisfied with their physical appearance. Some of these concerns can be addressed nonsurgically (e.g., laser hair removal). Other concerns require surgery, including facial feminization surgery, breast reduction or augmentation, and reconstructive genitourinary surgery. The following figure illustrates typical approaches to genital reconstruction surgery.

Typical Approaches to Genital Reconstruction Surgery for Transgender Persons

(Source: Care of Transgender Persons. N Engl J Med 2019.)

Regular Health Maintenance

For routine health care maintenance, refer to the table below. Of note, the approach is unclear for gender-specific risk calculators (e.g., atherosclerotic cardiovascular disease [ASCVD] risk calculators or fracture risk assessment tools [FRAX]). Clinicians often calculate the risk for both male and female sex and then use clinical judgment to decide how to interpret risk estimates. For lab reference ranges, the range that matches the hormonal environment is typically used. Spirometry or bone densitometry reference ranges that differ by gender are less certain.

Routine Health Care Maintenance for Transgender Patients

Screen	Trans Women	Trans Men
Breast cancer	Screening based on published guidelines if breast tissue is present	Screening based on published guidelines if breasts are intact
Cervical cancer	Not indicated	Screening based on published guidelines if cervix is intact; may require self-collection, a trauma-informed approach, or sedation
Prostate cancer	Screening based on published guidelines for general population; often discontinued if testosterone levels are low	Not indicated
Sexually transmitted infections	Sexual history and screening of any sites of exposure; consider pre-exposure prophylaxis in high-risk patients
Hyperlipidemia	Screening based on published guidelines for the general population
Osteoporosis	Bone densitometry at age 65 years; consider earlier screening in patients with extended periods of hypogonadism

(Adapted from:  Caring for the Transgender Patient. Ann Intern Med 2020.)

Creating an Affirming Environment

Transgender patients experience disproportionately high rates of medical stigmatization, discrimination, and lack of access to care. The number of providers with expertise in transgender medicine is limited, and transgender treatment is not adequately taught in conventional medical curricula. According to the U.S. Transgender Survey, 63% of participants experienced serious acts of discrimination, including but not limited to job loss, eviction, physical assault, and sexual assault.

Due to this discrimination, even in health care settings, providers must make efforts to create a more inclusive and affirming environment for transgender patients. Practical considerations include:

• hiring more gender-diverse staff

• training all staff to use correct pronouns and names

• partnering with community programs

• advocating for insurance coverage of medical or surgical therapies

• modifying the electronic health system (EHR) to accommodate gender diversity

• practicing trauma-informed care

• ensuring forms include gender-diverse options

• adding images of gender-diverse people to marketing materials

• offering all-gender bathrooms

• highlighting nondiscrimination policies

• enforcing policies that prohibit disrespectful behavior based on gender identity

• displaying stickers, flags, and other signals that you ally with the patient

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