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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Endocrinology

Modern Care and Ethical Decisions: Balancing Risk and Autonomy

At a Glance

Modern care for 46,XY ovotesticular DSD emphasizes "watchful waiting" over early surgery. This approach preserves natural hormones and bodily autonomy while strictly monitoring for the increased risk of germ cell tumors using regular imaging and blood tests.

Modern care for 46,XY Ovotesticular Difference of Sex Development (OT-DSD) is focused on two primary goals: protecting physical health and preserving the patient’s future ability to make decisions about their own body [1][2]. This marks a significant shift from older practices that prioritized early surgery to make genitals conform to a traditional male or female standard [3][4].

The Strategy of “Watchful Waiting”

In the past, many doctors automatically recommended prophylactic gonadectomy—the surgical removal of gonadal tissue—to prevent the risk of cancer [5]. Today, specialists often discuss a nuanced approach of “watchful waiting” because:

  • Understanding Cancer Risk: While OT-DSD in individuals with XX chromosomes has a very low cancer risk, the presence of Y-chromosome material in 46,XY OT-DSD does notably increase the risk for germ cell tumors (like gonadoblastoma) in the testicular portion of the tissue [6][1]. Because of this, strict adherence to a lifelong surveillance protocol is mandatory if the gonads are preserved [7].
  • Natural Hormones: Keeping the gonads allows the potential for spontaneous puberty using the body’s own hormones [7][8]. This supports bone health, growth, and sexual function, sometimes without the immediate need for lifelong medication [8][9].
  • Preserving Options: Leaving the tissue in place gives the individual the chance to decide for themselves, once they are older, which tissue (if any) they would like to keep or remove based on their gender identity [1][3].

Managing Cancer Risk

Because the risk of tumors is present with a 46,XY karyotype, a specialized team must monitor the gonads closely [6]. The surveillance protocol may include:

  1. Regular Imaging: Using ultrasounds or MRIs to check for any unusual changes or growths in the ovarian or testicular tissue [10][11].
  2. Tumor Markers: Periodic blood tests to look for specific proteins that can be early warning signs of a tumor [12].
  3. Physical Exams: Regular check-ups with a urologist or endocrinologist [7].

Puberty and Hormones

As a patient approaches puberty, the multidisciplinary team will monitor hormone levels—such as testosterone, estrogen, FSH, and LH—to see how the gonads are functioning [9][13].

If the gonads do not produce enough hormones, or if they were surgically removed to mitigate cancer risk, Hormone Replacement Therapy (HRT) is initiated [14]. This involves taking medications (like estrogen or testosterone) to help the body develop secondary sex characteristics (like breast development or facial hair) that align with the patient’s gender identity [15][3].

The Ethical Shift in Surgery

Current international guidelines (such as the updated Chicago Consensus) strongly advocate for delaying any irreversible genital surgeries that are not medically necessary [2][16]. The logic is clear: a child’s gender identity may not be known until they are older. By waiting, the medical team ensures that the patient can participate in informed consent, choosing the path that best fits their life and identity [1][17].

This approach treats the diagnosis not as a problem to be “fixed,” but as a unique biological presentation that requires careful, respectful, and long-term management [1][18].

Common questions in this guide

What is the cancer risk associated with 46,XY OT-DSD?
Individuals with 46,XY OT-DSD have an increased risk for germ cell tumors, such as gonadoblastoma, in the testicular portion of their tissue. Because of this, strict lifelong medical surveillance is mandatory if the gonads are kept in place.
What does 'watchful waiting' mean for DSD care?
Watchful waiting is an approach where irreversible genital surgeries are delayed until the patient is older. This preserves natural hormone production and allows the individual to provide informed consent for surgeries based on their own gender identity.
How are the gonads monitored if surgery is delayed?
If gonads are preserved, doctors use a strict surveillance protocol to check for early signs of cancer. This typically includes regular imaging like ultrasounds or MRIs, periodic blood tests for tumor markers, and routine physical exams.
Will a patient with 46,XY OT-DSD need hormone replacement therapy?
Hormone replacement therapy is started if the gonads do not produce enough natural hormones for puberty, or if they were surgically removed to prevent cancer. This therapy helps the body develop physical characteristics that align with the patient's gender identity.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the specific risk of malignancy (cancer) given my or my child's 46,XY karyotype and specific tissue composition?
  2. 2.If we choose to delay surgery, what is the exact surveillance protocol (imaging or blood tests) we will follow to monitor the gonads?
  3. 3.Does the multidisciplinary team have a psychologist who can help us navigate these decisions over time?
  4. 4.If hormone replacement or suppression is needed in the future, what are the criteria for starting it?

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 (18)
  1. 1

    Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management.

    Syryn H, Van De Vijver K, Cools M

    Hormone research in paediatrics 2023; (96(2)):180-189 doi:10.1159/000519323.

    PMID: 34469891
  2. 2

    Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.

    Lee PA, Nordenström A, Houk CP, et al.

    Hormone research in paediatrics 2016; (85(3)):158-80 doi:10.1159/000442975.

    PMID: 26820577
  3. 3

    Disorders of sex development.

    Witchel SF

    Best practice & research. Clinical obstetrics & gynaecology 2018; (48()):90-102 doi:10.1016/j.bpobgyn.2017.11.005.

    PMID: 29503125
  4. 4

    'Does anyone else have this?' The role of emotion in forum discussions about medical conditions affecting sex characteristics.

    Roen K, Carlquist E, Prøitz L

    Culture, health & sexuality 2021; (23(1)):52-67 doi:10.1080/13691058.2019.1688867.

    PMID: 32031507
  5. 5

    Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.

    Lu L, Luo F, Wang X

    Frontiers in pediatrics 2022; (10()):856128 doi:10.3389/fped.2022.856128.

    PMID: 35935368
  6. 6

    Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.

    Şimşek E, Binay Ç, Demiral M, et al.

    Journal of clinical research in pediatric endocrinology 2016; (8(3)):351-5 doi:10.4274/jcrpe.2705.

    PMID: 27087521
  7. 7

    Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.

    Kim YM, Oh A, Kim KS, et al.

    Annals of pediatric endocrinology & metabolism 2019; (24(4)):231-236 doi:10.6065/apem.2019.24.4.231.

    PMID: 31905442
  8. 8

    An Unusual and Late Presentation of 46, XY Ovotesticular Difference of Sex Development.

    Elsa Mathew U, Arun CS, George V, et al.

    JCEM case reports 2025; (3(8)):luaf115 doi:10.1210/jcemcr/luaf115.

    PMID: 40520042
  9. 9

    Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

    Sepich M, Bertelloni S, Tyutyusheva N, et al.

    The Journal of clinical endocrinology and metabolism 2026; (111(5)):e1356-e1363 doi:10.1210/clinem/dgaf603.

    PMID: 41183501
  10. 10

    Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

    Kilberg MJ, McLoughlin M, Pyle LC, Vogiatzi MG

    Pediatric endocrinology reviews : PER 2019; (17(2)):110-116 doi:10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd.

    PMID: 31763803
  11. 11

    Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).

    Ahmed SF, Achermann J, Alderson J, et al.

    Clinical endocrinology 2021; (95(6)):818-840 doi:10.1111/cen.14528.

    PMID: 34031907
  12. 12

    Surgery in Chinese children affected by 45,X/46,XY disorders of sex development: A 20-year experience in a single center.

    Wong YS, Pang KKY, Tam YH

    Journal of pediatric surgery 2022; (57(7)):1398-1403 doi:10.1016/j.jpedsurg.2021.05.018.

    PMID: 34167801
  13. 13

    Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.

    Gong Y, Yin X, Xu J, et al.

    Frontiers in endocrinology 2025; (16()):1571467 doi:10.3389/fendo.2025.1571467.

    PMID: 40487758
  14. 14

    Hormone replacement in disorders of sex development, and long-term effects.

    Nordenström A, Mangone A, Mantovani G

    Best practice & research. Clinical endocrinology & metabolism 2025; (39(4)):102022 doi:10.1016/j.beem.2025.102022.

    PMID: 40634221
  15. 15

    True hermaphroditism with dysgerminoma: A case report.

    Chen CQ, Liu Z, Lu YS, et al.

    Medicine 2020; (99(22)):e20472 doi:10.1097/MD.0000000000020472.

    PMID: 32481455
  16. 16

    Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic.

    De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, et al.

    Cureus 2021; (13(10)):e18512 doi:10.7759/cureus.18512.

    PMID: 34692261
  17. 17

    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
  18. 18

    Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity.

    Chawla R, Weidler EM, Hernandez J, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(6)):643-646 doi:10.1515/jpem-2018-0567.

    PMID: 31145695

This page provides educational information about 46,XY OT-DSD management and ethics. It is not medical advice; always consult your multidisciplinary healthcare team for personalized guidance.

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