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PubMed This is a summary of 20 peer-reviewed journal articles Updated
Endocrinology

Navigating a Diagnosis of 46,XY Ovotesticular DSD

At a Glance

A 46,XY ovotesticular DSD diagnosis means an individual has typical male chromosomes alongside both ovarian and testicular tissue. It is not a medical emergency. Current guidelines recommend watchful waiting, multidisciplinary care, and delaying cosmetic surgeries to protect the patient's autonomy.

Receiving a diagnosis of 46,XY Ovotesticular Difference of Sex Development can feel overwhelming, but it is important to know that you or your child are healthy and there is no need for immediate, rushed decisions [1][2]. This diagnosis simply means that physical development has followed a unique biological path. Modern medicine has moved away from the “medical emergencies” of the past, now prioritizing a thoughtful, team-based approach that protects your physical health and future autonomy [3][4].

Understanding the Language

In the past, these conditions were often called “disorders.” Today, the medical community is shifting toward the term Difference of Sex Development (DSD) [3]. This change reflects a move away from viewing a patient as having something “broken” and toward an understanding of biological diversity [5].

46,XY Ovotesticular DSD is a rare condition where an individual has both ovarian tissue (the type of tissue that makes eggs) and testicular tissue (the type of tissue that makes sperm), while having a 46,XY karyotype (a set of chromosomes typically associated with male development) [1][6]. In some cases, this tissue is combined in a single organ called an ovotestis [7].

Stabilizing Facts for the Path Ahead

When a diagnosis is first made—whether at birth due to ambiguous genitalia (physical features that are not clearly typically male or female) or later during adolescence when puberty does not progress as expected—it is natural to feel a sense of urgency and confusion [1][7]. However, these facts can help ground you:

  1. It is not a medical emergency. Unless there is a specific issue with urination or another immediate health concern, 46,XY ovotesticular DSD does not require immediate surgery [8][9].
  2. Standards of care have changed. Current international guidelines, established by the Chicago Consensus, emphasize “watchful waiting” and multidisciplinary care over early “normalizing” surgeries [10][11].
  3. Future autonomy is the priority. Modern healthcare teams prioritize a patient’s right to make their own decisions about their body and gender identity when they are older and able to fully understand the options [3][4].

Why the Shift Away from Early Surgery?

For many years, doctors believed that “fixing” the appearance of a child’s genitals as early as possible was best for their psychological health. However, research and the lived experiences of adult patients have shown that early, irreversible surgeries can sometimes lead to physical complications or psychological distress if the child’s later gender identity does not match the surgery performed [12][13].

Because of this, current medical consensus recommends:

  • Deferring surgery that is purely for appearance until the patient can provide informed consent (the ability to understand and agree to a medical procedure) [12][14].
  • Focusing on function and long-term health rather than anatomical “normalization” [8][15].
  • Monitoring gonads (the ovarian and testicular tissue) for health and hormone production carefully, avoiding preventative removal unless the cancer risk profile specifically demands it [16][17].

Immediate Next Steps

The goal of the first few weeks or months is not to “fix” anything, but to gather information and build a support system.

  • Establish a Multidisciplinary Team (MDT): This team should include an endocrinologist (hormone specialist), a urologist, a geneticist, and a psychologist or social worker [2][18].
  • Comprehensive Evaluation: This may include specialized imaging like ultrasound or MRI to locate internal organs, and blood tests to check hormone levels [1][17].
  • Psychosocial Support: Seeking counseling is a standard part of care. It helps you navigate the emotional impact, prepare for conversations with others, and adjust to the diagnosis [2][19].
  • Individualized Planning: Every patient is different. Your team will work with you to create a plan for long-term follow-up to monitor growth, potential puberty, and overall well-being [3][20].

Common questions in this guide

Is a 46,XY ovotesticular DSD diagnosis a medical emergency?
No, unless there is a specific issue like a problem with urination, this diagnosis is not an emergency. Modern medical guidelines recommend taking time to gather information, understand the condition, and build a support team rather than rushing into any decisions.
Why do doctors now recommend delaying genital surgery for children with DSD?
Current guidelines recommend deferring surgeries that are purely for appearance to protect the child's future autonomy. Early, irreversible surgeries can sometimes cause physical complications or psychological distress if they do not align with the child's later gender identity.
What kind of doctors should be on our DSD care team?
A comprehensive care team typically includes an endocrinologist for hormone monitoring, a urologist, a geneticist, and a psychologist or social worker. This team ensures that both physical health and emotional well-being are supported over time.
How is 46,XY ovotesticular DSD evaluated and monitored?
Doctors use blood tests to check hormone levels and specialized imaging, like ultrasounds or MRIs, to locate internal reproductive organs. Ongoing monitoring tracks growth, hormone production, and overall health without rushing preventative tissue removal.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What members are currently on our multidisciplinary team (MDT), and do they have specific experience with ovotesticular DSD?
  2. 2.Based on current guidelines, what are the risks and benefits of delaying any genital surgery until I or my child can participate in the decision?
  3. 3.Can you explain the specific findings (imaging, genetics, or biopsies) that led to this diagnosis?
  4. 4.How will we monitor for hormone production and potential puberty over time?

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 (20)
  1. 1

    Ovotesticular Disorder of Sex Development in Korean Children: A Single-Center Analysis over a 30-Year Period.

    Kim HI, Lee I, Kim SH, et al.

    Journal of pediatric and adolescent gynecology 2021; (34(5)):626-630 doi:10.1016/j.jpag.2021.02.105.

    PMID: 33667640
  2. 2

    Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.

    Corona LE, Lee VS, Weisman AG, et al.

    The Journal of urology 2024; (212(5)):660-671 doi:10.1097/JU.0000000000004137.

    PMID: 38968141
  3. 3

    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
  4. 4

    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
  5. 5

    Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.

    Bever YV, Brüggenwirth HT, Wolffenbuttel KP, et al.

    Journal of medical genetics 2020; (57(9)):581-589 doi:10.1136/jmedgenet-2019-106354.

    PMID: 32303604
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    Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome.

    Manotas MC, García-Acero M, González DM, et al.

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2020; (14(1-6)):12-20 doi:10.1159/000512803.

    PMID: 33677455
  7. 7

    Ovotesticular disorder of sex development presenting as gynecomastia in a phenotypic male adolescent: a case report and literature insights.

    Gaur BK, Gupta S

    Hormone molecular biology and clinical investigation 2025; (46(4)):183-187 doi:10.1515/hmbci-2025-0061.

    PMID: 41312604
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    [Advances in the diagnosis and hormone replacement treatment of 46, XY disorders of sex development].

    Tian HJ, Zhang JW, Wu DH, et al.

    Zhonghua nan ke xue = National journal of andrology 2016; (22(9)):843-849.

    PMID: 29071885
  9. 9

    A novel approach in the intraoperative management of ovotesticular DSD.

    Delforge X, Brachet C, Damry N, et al.

    Journal of pediatric urology 2020; (16(6)):768-770 doi:10.1016/j.jpurol.2020.10.007.

    PMID: 33268315
  10. 10

    Clinical tools in the diagnosis of disorders of sex development: a switch from the hormonal to the genetics laboratory?

    Rey RA

    Advances in laboratory medicine 2021; (2(4)):463-467 doi:10.1515/almed-2021-0072.

    PMID: 37360891
  11. 11

    Ethical concerns surrounding sex prediction using noninvasive prenatal screening from pediatric endocrinologists' perspective.

    Kamoun C, Rossi W, Kilberg MJ

    Journal of genetic counseling 2023; (32(5)):937-941 doi:10.1002/jgc4.1649.

    PMID: 37401532
  12. 12

    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
  13. 13

    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
  14. 14

    Intersex Activists in Israel: Their Achievements and the Obstacles They Face.

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    Journal of bioethical inquiry 2018; (15(4)):569-578 doi:10.1007/s11673-018-9877-2.

    PMID: 30194675
  15. 15

    '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
  16. 16

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

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

    PMID: 40520042
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    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
  18. 18

    Fertility Issues in Disorders of Sex Development.

    Guercio G, Costanzo M, Grinspon RP, Rey RA

    Endocrinology and metabolism clinics of North America 2015; (44(4)):867-81.

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  19. 19

    A case report of ovotesticular disorder of sex development (OT-DSD) in a baboon (Papio spp.) and a brief review of the non-human primate literature.

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    PMID: 33855958

This page provides educational information about 46,XY ovotesticular DSD. Always consult a multidisciplinary medical team for individualized guidance regarding diagnosis, monitoring, and care.

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