Breast

Other nonneoplastic

Transgender breast pathology


Editorial Board Member: Kristen E. Muller, D.O.
Deputy Editor-in-Chief: Gary Tozbikian, M.D.
Gabrielle M. Baker, M.D.
Yu Jing Jan Heng, Ph.D.

Last author update: 24 August 2021
Last staff update: 20 April 2023 (update in progress)

Copyright: 2021, PathologyOutlines.com, Inc.

PubMed Search: Transgender breast pathology

Gabrielle M. Baker, M.D.
Yu Jing Jan Heng, Ph.D.
Page views in 2022: 855
Page views in 2023 to date: 399
Cite this page: Baker GM, Heng YJJ. Transgender breast pathology. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/breasttransgenderpath.html. Accessed June 4th, 2023.
Definition / general
  • Transgender individuals have a gender identity that differs from their assigned sex; the term includes gender nonbinary individuals who do not identify as exclusively male or female (Clin Breast Cancer 2019;19:e12)
  • This article is focused on breast pathology in transmasculine (TM) people, transgender men and gender nonbinary individuals who were assigned female at birth (AFAB) but their gender identity / expression falls in the masculine range (i.e. female to male [FtM])
  • TM people frequently pursue gender affirming testosterone therapy to induce masculinization, with or without subsequent chest contouring surgery or other gender affirming surgery (Clin Breast Cancer 2019;19:e12)
Essential features
  • Gender affirming surgery in the TM subgroup of transgender individuals includes top surgery (i.e. chest contouring surgery, mastectomy, reduction mammoplasty)
  • Testosterone therapy is often taken before and after gender affirming surgeries and has an impact on breast histopathology, particularly when taken for at least 12 months (Mod Pathol 2021;34:85)
  • Most commonly observed histologic alteration seen in patients taking testosterone is lobular atrophy
  • As top surgery does not necessarily remove all identifiable breast tissue, longterm followup studies are needed to better understand the risk of breast cancer in this population
Terminology
  • Gender dysphoria, gender incongruence, gender nonconforming individual (GNCI), transsexual, assigned female at birth (AFAB), female to male (FtM)
  • Gender affirming surgery, gender reassignment surgery, sex reassignment surgery, top surgery
ICD coding
  • ICD-10:
    • F64.0 - gender dysphoria in adolescents and adults and gender identity disorder in adolescence and adulthood
    • F64.9 - gender identity disorder, unspecified
    • Z87.890 - personal history of sex reassignment
Epidemiology
  • Estimated 1.4 million (0.6%) adults in the United States identify as transgender or gender nonconforming (Plast Reconstr Surg Glob Open 2018;6:e1738)
  • Increasing social acceptance, greater health insurance policy coverage of gender affirming health care services and the implementation of the Affordance Care Act Section 1557 in 2016 has resulted in an increasing number of TM people pursuing gender affirming hormone therapy and gender affirming surgeries (Fed Regist 2016;81:31375, Transgend Health 2019;4:326, Transgend Health 2019;4:131)
  • Gender affirming surgeries in the TM subgroup of transgender individuals may include top surgery (i.e. chest contouring surgery, mastectomy, reduction mammoplasty), as well as facial masculinization and genital surgery (Plast Reconstr Surg 2019;143:857e)
  • In the United States, TM individuals tend to undergo chest contouring surgery to affirm their masculine identity at a relatively young age (< 30 years old) (Mod Pathol 2021;34:85)
Sites
  • Breast
Pathophysiology
  • Gender affirming testosterone therapy has an impact on breast histopathology, particularly when taken for at least 12 months (see Microscopic (histologic) description below) (Mod Pathol 2021;34:85)
  • Data remains limited regarding the influence of exogenous testosterone on hormone sensitive tissues, such as the breast and the risk of subsequent malignancy (Transgend Health 2019;4:326)
  • Longterm followup studies are needed to understand the risk of breast cancer in TM individuals undergoing testosterone therapy and to determine culturally sensitive and appropriate screening algorithms (Mod Pathol 2021;34:85)
Etiology
  • Gender affirming testosterone therapy use
Clinical features
  • Documentation of receiving masculinizing hormones - injectable testosterone enanthate or cypionate, transdermal testosterone in the form of patches or topical gels, testosterone pellet
  • Use of other medications, such as minoxidil or finasteride for male pattern baldness, progesterone to cease menstruation or as birth control, estrogen vaginal cream to relieve discomfort due to vaginal atrophy
  • Documentation of gender affirming surgeries
  • Documentation of chest binding
  • Cessation of menses
Diagnosis
  • Diagnosed with gender dysphoria by a mental health professional
Laboratory
  • TM people receiving gender affirming testosterone therapy have circulating testosterone levels comparable to cisgender men of 300 - 1,000 ng/dL (Curr Opin Endocrinol Diabetes Obes 2013;20:553)
  • TM people receiving gender affirming testosterone therapy have circulating estradiol levels of < 50 pg/mL, lower than cisgender premenopausal women (30 - 400 pg/mL)
Radiology description
  • Screening recommendations for TM people are in evolution and may include the following (AJR Am J Roentgenol 2014;202:1157):
    • Breast examination and screening mammography as for cisgender women for TM people who have undergone no chest surgery or reduction mammoplasty only
    • Annual chest wall and axillary examination for TM people following bilateral mastectomy
    • Preoperative mammography for TM people who meet standard screening criteria for cisgender women
  • Breast cancer may develop in residual breast tissue following top surgery and is most frequently identified as a palpable mass with similar radiologic appearances to tumors arising in cisgender men and women (AJR Am J Roentgenol 2014;202:1149)
Case reports
Clinical images

Images hosted on other servers:
Pre and postoperative photographs Pre and postoperative photographs Pre and postoperative photographs

Pre and postoperative photographs

Gross description
  • Breast parenchyma is typically without macroscopic abnormality
  • If macroscopically within normal limits, representative sections of fibrous breast tissue, skin and nipple areolar complex (if present) may be sampled for microscopic evaluation
  • As guidelines for the gross examination and subsequent tissue submission have not been standardized, one's institutional protocol for reduction mammoplasty specimens may be followed with additional tissue evaluated if atypical proliferations are identified on the initially submitted tissue (Mod Pathol 2021;34:85, Arch Pathol Lab Med 2020;144:888)
Gross images

Contributed by Kelsey McGinley PA (ASCP) and Gabrielle M. Baker, M.D.
Mastectomy specimen; gender dysphoria, trans man

Mastectomy
specimen

Microscopic (histologic) description
  • Full spectrum of benign and malignant histologic alterations seen in cisgender breast tissue may be seen in the transgender setting
  • Same diagnostic criteria are applied in breast tissue from cisgender and transgender patients
  • Most common histologic alteration observed in breast specimens from TM people taking testosterone is a variable degree of lobular atrophy (Mod Pathol 2021;34:85)
  • Gynecomastoid change is also commonly seen in breast tissue from TM people taking testosterone (Histopathology 2017;71:859, Mod Pathol 2021;34:85)
Microscopic (histologic) images

Contributed by Yaileen Guzman, M.D. and Gabrielle Baker, M.D.
DCIS; gender dysphoria, trans man

Ductal carcinoma in situ

29 year old transgender man with ADH

Atypical ductal hyperplasia

Sample pathology report
  • Right breast, mastectomy:
    • Breast tissue, portion of nipple areolar complex and skin with no significant pathologic change (see comment)
    • Comment: The lobules appear atrophic, consistent with the patient's reported use of testosterone therapy.
Differential diagnosis
Board review style question #1
Which of the following is the most commonly observed histologic alteration in breast specimens from transmasculine individuals taking testosterone?

  1. Collagenous spherulosis
  2. Intraductal papillomas
  3. Invasive ductal carcinoma
  4. Lobular atrophy
Board review style answer #1
D. Lobular atrophy

Comment Here

Reference: Transgender breast pathology
Board review style question #2
Which of the following is true regarding the risk of breast cancer in transmasculine individuals who are taking testosterone and have undergone top surgery?

  1. Longterm followup studies are needed to better understand the risk of breast cancer in this population
  2. These individuals are known to have a higher risk of developing breast cancer than cisgender females
  3. These individuals are known to have a lower risk of developing breast cancer than cisgender males
  4. These individuals have no risk of developing subsequent breast cancer
Board review style answer #2
A. Longterm followup studies are needed to better understand the risk of breast cancer in this population

Comment Here

Reference: Transgender breast pathology
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