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PubMed This is a summary of 22 peer-reviewed journal articles Updated

Navigating Treatment, Surgical Decisions, and Identity

At a Glance

Modern treatment for 46,XY DSD prioritizes patient autonomy by delaying elective cosmetic genital surgeries until the individual can provide informed consent. Care focuses on managing specific health risks, like cancer prevention, while a multidisciplinary team supports identity development.

Navigating medical decisions for a 46,XY Difference of Sex Development (DSD) is a journey that requires time, specialized information, and a supportive care team. In the past, the medical field often rushed into “normalizing” surgeries [1]. Today, the consensus has shifted toward a cautious, patient-centered approach that prioritizes long-term autonomy, identity, and well-being [2][3].

The Shift in Surgical Timing

Modern clinical guidelines from major medical organizations emphasize that most surgeries for DSD are not medical emergencies [2]. There is an ongoing shift away from routine early “cosmetic” or “functional” genital surgery (genitoplasty) in favor of deferring these procedures until the patient is old enough to participate in the decision-making process [1][4].

Advocacy groups and medical ethics boards argue that delaying surgery protects a person’s right to an “open future” and bodily autonomy [5][6]. By waiting, an individual is allowed to develop their own gender identity and provide informed consent for any irreversible changes to their body [2][7].

Medical Necessity vs. Elective Surgery

It is helpful to distinguish between surgeries meant to address immediate health risks and those meant to change physical appearance.

1. Cancer Prevention (Gonadectomy)

In some subtypes of 46,XY DSD, the gonads (testes) do not develop typically and may carry a risk of developing germ cell tumors (GCTs) [8][9].

  • High Risk: Conditions like Swyer Syndrome (gonadal dysgenesis) have a higher risk of malignancy. Doctors may recommend removing the gonads (gonadectomy) to prevent cancer [10][11].
  • Low Risk: In Complete Androgen Insensitivity Syndrome (CAIS), the cancer risk is generally very low before puberty, meaning there is often no medical need to remove the gonads during infancy or childhood [12][13].
  • The Decision: Even when a risk exists, the timing is often debated. Many teams now use regular imaging and monitoring to delay surgery until late adolescence or early adulthood [14][15].

2. Cosmetic and Functional Genitoplasty

These surgeries are intended to make the external genitalia look more typically male or female or to change how they function (e.g., for urination). Unless there is a direct health threat—such as a blockage that prevents urination—these are considered elective [4][16]. Decisions about these surgeries are highly personal and should involve a multidisciplinary team [17][18].

Gender Assignment and Identity Affirmation

Assigning a gender to an infant with 46,XY DSD is a careful process guided by the specific diagnosis, not just physical appearance [2][19]. For those diagnosed in adolescence or adulthood, the focus shifts to understanding the diagnosis in the context of an already established identity.

  • Biological Factors: Teams consider how much prenatal androgen exposure (male hormones) the brain likely received, as this can influence future gender identity [20].
  • Specific Subtypes: For example, individuals with 5-alpha reductase deficiency are more likely to eventually identify as male, even if they were assigned female at birth [21]. In contrast, those with CAIS almost universally identify as female [21].
  • Multidisciplinary Input: A comprehensive team includes a psychologist to help patients and families navigate identity affirmation, body image struggles, and the psychological impact of feeling “different” [17][22].

Empowering Yourself

You are the primary advocate for yourself or your child. It is perfectly acceptable—and often encouraged—to:

  • Take your time. Most decisions do not need to be made immediately [19].
  • Seek second opinions. If a surgical team is pushing for immediate elective surgery without a clear medical emergency, you have the right to consult another center [2].
  • Protect Privacy. It is okay to set boundaries regarding who is allowed in the room during physical exams.

Common questions in this guide

Why do doctors now recommend delaying genital surgery for 46,XY DSD?
Medical guidelines now emphasize deferring elective genital surgeries until the patient is old enough to participate in the decision. This protects bodily autonomy and allows the individual to develop their own gender identity before irreversible physical changes are made.
Is it medically necessary to remove the gonads in 46,XY DSD?
It depends on your specific diagnosis. Conditions like Swyer Syndrome carry a higher risk of germ cell tumors, making removal (gonadectomy) recommended. For lower-risk conditions like CAIS, surgery is often delayed or avoided in favor of regular monitoring.
How is gender assigned for infants with a difference of sex development?
Gender assignment is a careful process guided by the specific genetic diagnosis and potential prenatal androgen exposure, rather than just physical appearance. A multidisciplinary team helps families navigate this to align with the individual's most likely future identity.
What is a genitoplasty, and is it required?
Genitoplasty is a surgical procedure to alter the appearance or function of external genitalia. Unless there is a direct health threat, such as a urinary blockage, these surgeries are considered elective and are often deferred until the patient can provide informed consent.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on the specific genetic diagnosis, what is the documented risk of gonadal germ cell tumors?
  2. 2.Is there a medical reason why surgery (gonadectomy or genitoplasty) would be required now rather than waiting?
  3. 3.How does the team support patients navigating their gender identity, particularly in conditions like 5-alpha reductase deficiency?
  4. 4.If we choose to delay surgery, what does the long-term monitoring plan (such as imaging or blood tests) look like?
  5. 5.Can you provide data on the long-term sexual function and satisfaction outcomes for patients who have had this specific surgery versus those who waited?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (22)
  1. 1

    Differences of Sex Development: Current Issues and Controversies.

    Johnson EK, Whitehead J, Cheng EY

    The Urologic clinics of North America 2023; (50(3)):433-446 doi:10.1016/j.ucl.2023.04.010.

    PMID: 37385705
  2. 2

    "Congruency the ART of Being Real" - 46XY DSD Due to 5 α Reductase Deficiency - Challenges in Decision Making.

    Subbiah S, Priyanka R, Jayaraman S

    Indian journal of endocrinology and metabolism 2021; (25(5)):392-394 doi:10.4103/ijem.ijem_179_21.

    PMID: 35300438
  3. 3

    Techniques of Primary Vaginoplasty in Young Adults with Differences of Sex Development and Female Identification.

    Ellerkamp V, Rall KK, Schaefer J, et al.

    Journal of clinical medicine 2022; (11(13)) doi:10.3390/jcm11133688.

    PMID: 35806974
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    Psychological perspectives to early surgery in the management of disorders/differences of sex development.

    Wisniewski AB, Tishelman AC

    Current opinion in pediatrics 2019; (31(4)):570-574 doi:10.1097/MOP.0000000000000784.

    PMID: 31246626
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    Perspectives on conducting "sex-normalising" intersex surgeries conducted in infancy: A systematic review.

    Muschialli L, Allen CL, Boy-Mena E, et al.

    PLOS global public health 2024; (4(8)):e0003568 doi:10.1371/journal.pgph.0003568.

    PMID: 39197054
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    Medicalization of intersex and resistance: a commentary on Conway.

    Liao LM, Baratz A

    International journal of impotence research 2023; (35(1)):51-55 doi:10.1038/s41443-022-00597-x.

    PMID: 36076030
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    Surgical Decision-Making for Individuals with Differences of Sex Development: Stakeholders' views.

    Weidler EM, Gardner M, Suorsa-Johnson KI, et al.

    Frontiers in urology 2023; (3()) doi:10.3389/fruro.2023.1092256.

    PMID: 37920724
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    A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

    Pyle LC, Nathanson KL

    American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(2)):304-314 doi:10.1002/ajmg.c.31562.

    PMID: 28544305
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    Risk of gonadal neoplasia in patients with disorders/differences of sex development.

    Slowikowska-Hilczer J, Szarras-Czapnik M, Duranteau L, et al.

    Cancer epidemiology 2020; (69()):101800 doi:10.1016/j.canep.2020.101800.

    PMID: 32905884
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    The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients.

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    Germ Cell Tumors in 46, XY Gonadal Dysgenesis.

    Misgar RA, Islam Mir SU, Mir MH, et al.

    Indian journal of endocrinology and metabolism 2024; (28(4)):424-428 doi:10.4103/ijem.ijem_373_22.

    PMID: 39371651
  12. 12

    Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

    Wang F, Wang D, Li J, Xing N

    Cancer reports (Hoboken, N.J.) 2026; (9(2)):e70491 doi:10.1002/cnr2.70491.

    PMID: 41725111
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    Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

    Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, et al.

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2023; (17(1)):16-25 doi:10.1159/000526997.

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    Oncologic outcomes of pre-malignant and invasive germ cell tumors in patients with differences in sex development - A systematic review.

    Morin J, Peard L, Vanadurongvan T, et al.

    Journal of pediatric urology 2020; (16(5)):576-582 doi:10.1016/j.jpurol.2020.05.002.

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    Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature.

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    International journal of environmental research and public health 2021; (18(11)) doi:10.3390/ijerph18115648.

    PMID: 34070473
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    Ethical issues with early genitoplasty in children with disorders of sex development.

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    Current opinion in endocrinology, diabetes, and obesity 2019; (26(1)):49-53 doi:10.1097/MED.0000000000000460.

    PMID: 30507698
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    Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review.

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    Medicina (Kaunas, Lithuania) 2025; (61(11)) doi:10.3390/medicina61111965.

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    Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.

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    Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India.

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    Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

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This page provides educational information about treatment approaches and surgical decisions for 46,XY DSD. It is not intended as medical advice; always consult your specialized multidisciplinary care team regarding your specific diagnosis.

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