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

Understanding 46,XX Ovotesticular DSD

At a Glance

46,XX ovotesticular difference of sex development (DSD) is a natural biological variation where a person has XX chromosomes and both ovarian and testicular tissue. Unless there is a functional emergency, experts recommend delaying surgery to preserve future patient autonomy.

Finding out that your newborn, child, or even you as a teen or adult, has 46,XX Ovotesticular DSD can feel like entering a world of medical terminology you never expected to navigate. It is important to know that you are not alone and that this is a natural part of human diversity [1][2].

Understanding the Name

The name of this condition is a technical description of biological makeup:

  • 46,XX: This refers to the karyotype (the number and appearance of chromosomes). In most cases, 46,XX is the chromosomal pattern for typical females [3][4].
  • Ovotesticular: This means that both ovarian and testicular tissue are present. This may happen in the form of one ovary and one testis, or as an ovotestis (a single gonad containing both types of tissue) [3][5].
  • DSD: This stands for Differences of Sex Development (sometimes called Disorders of Sex Development). This is an umbrella term for many conditions where a person’s chromosomal, hormonal, or anatomical sex doesn’t fit typical binary definitions [1][2].

Why the Language Has Changed

In the past, you may have heard terms like “true hermaphroditism.” The medical community moved away from this language because it was inaccurate and carried a heavy social stigma [6][7]. The transition to “DSD” in 2006 was designed to provide a more scientific, less hurtful framework for care [6][8]. Today, many advocates and families prefer “Differences of Sex Development” to emphasize that these are natural biological variations [8][2].

Three Stabilizing Facts

When you receive this diagnosis, it can feel like a medical emergency, but it rarely is. Here are three things to hold onto:

  1. This is Not a Surgical Emergency: Unless there is a functional emergency, such as difficulty urinating or severe abdominal pain, there is almost never a medical reason for immediate genital surgery [9][10]. Current medical consensus has shifted away from “fixing” things early. Instead, experts recommend slowing down to protect future autonomy and the right to participate in healthcare decisions [10][11].
  2. Health is the Priority, Not a “Cure”: This diagnosis is about how the body developed in the womb; it is not a “sickness” that needs a cure [1][12]. Individuals with 46,XX ovotesticular DSD can grow up to be healthy, happy, and successful adults [12][13].
  3. You Have a Team: You are not expected to navigate this alone. Modern care uses a multidisciplinary team (MDT) [6][2]. This group typically includes pediatric endocrinologists (hormone specialists), urologists, geneticists, and psychologists who work together to support long-term health and well-being [2][14].

Moving Forward: A Timeline of Care

The focus of care will be long-term monitoring rather than immediate intervention.

  • The First Few Months (For Infants): Focus on completing non-invasive diagnostic tests (like genetics and ultrasounds) and meeting your MDT. Psychological support for parents usually begins here.
  • Childhood: Occasional check-ins with the endocrinologist and urologist.
  • Puberty: Intensive monitoring of pubertal development to understand how the body is changing and if hormone support is needed [15][4].
  • Late Adolescence/Adulthood: Evaluating fertility options and ongoing health monitoring for the gonads to ensure they stay healthy and do not develop growths (malignancy) [16][10].

Psychological support is a standard part of the care process across the entire lifespan, helping families and patients process feelings and advocate for their needs [17][18].

Common questions in this guide

What does 46,XX ovotesticular DSD mean?
It means a person has a typical female chromosomal pattern (46,XX) but was born with both ovarian and testicular tissue. This tissue can be separate, or it can be combined into a single structure known as an ovotestis.
Will my child need surgery immediately for 46,XX ovotesticular DSD?
No, unless there is a medical emergency like severe abdominal pain or difficulty urinating, immediate surgery is rarely necessary. Current medical guidelines recommend delaying non-emergency procedures so the child can participate in their own healthcare decisions as they grow older.
Why is the term 'true hermaphroditism' no longer used?
The medical community stopped using this term because it was biologically inaccurate and carried significant social stigma. The preferred term is Differences of Sex Development (DSD), which emphasizes that these conditions are natural biological variations.
What specialists will be on our DSD care team?
Care is managed by a multidisciplinary medical team. This typically includes pediatric endocrinologists for hormone monitoring, urologists, geneticists, and psychologists to support both the patient's and the family's emotional well-being.
Can someone with 46,XX ovotesticular DSD live a healthy life?
Yes. This diagnosis is about how the body developed in the womb, not a sickness that needs a cure. With the right support and monitoring, individuals with 46,XX ovotesticular DSD can grow up to be healthy, successful, and happy adults.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What did the genetic testing show regarding the specific genes involved in this case?
  2. 2.Who are the members of our multidisciplinary team, and how will they coordinate care?
  3. 3.Is there an immediate medical reason for surgery, or can we wait until the patient is old enough to participate in the decision?
  4. 4.Can you connect us with a psychologist or counselor who specializes in DSD and family support?

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

    Molecular Aspects of Sex Development in Mammals: New Insight for Practice.

    Audí L, Bertelloni S, Flück CE

    International journal of molecular sciences 2020; (21(23)) doi:10.3390/ijms21239146.

    PMID: 33266346
  2. 2

    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
  3. 3

    SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.

    Lambert S, Peycelon M, Samara-Boustani D, et al.

    Clinical endocrinology 2021; (94(4)):667-676 doi:10.1111/cen.14389.

    PMID: 33296530
  4. 4

    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
  5. 5

    Ovotesticular Disorders of Sexual Development: Diagnostic, Therapeutic, and Evolutionary Aspects.

    Ndoye NA, Cissé L, Dial CMM, et al.

    Journal of pediatric surgery 2025; (60(4)):162187 doi:10.1016/j.jpedsurg.2025.162187.

    PMID: 39892123
  6. 6

    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
  7. 7

    Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine.

    Kulle AE, Jürgensen M, Döhnert U, et al.

    Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2023; (35(3)):181-187 doi:10.1515/medgen-2023-2037.

    PMID: 38840817
  8. 8

    Evolving language reflects evolving understanding: updated terms for anatomical description in i/VSC/DSD.

    Whitehead J, Adams M, Davies A, et al.

    Nature reviews. Urology 2025; (22(6)):332-333 doi:10.1038/s41585-025-01035-5.

    PMID: 40229428
  9. 9

    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
  10. 10

    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
  11. 11

    An experimental philosophical bioethical study of how human rights are applied to clitorectomy on infants identified as female and as intersex.

    Smith A, Hegarty P

    Culture, health & sexuality 2021; (23(4)):548-563 doi:10.1080/13691058.2020.1788164.

    PMID: 32886032
  12. 12

    Clinical practice guidelines for the management of differences of sex development in Japan.

    Ishii T, Kashimada K, Kawai M, et al.

    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2026; (35(1)):1-49 doi:10.1297/cpe.2025-0073.

    PMID: 41509147
  13. 13

    [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
  14. 14

    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
  15. 15

    Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.

    Yoon H, Kim D, Kim JH, et al.

    Annals of pediatric endocrinology & metabolism 2025; (30(2)):77-85 doi:10.6065/apem.2448122.061.

    PMID: 40335043
  16. 16

    Clinical features and genetic characteristics of ovotesticular disorders of sex development: 24 cases from a single center.

    Li D, Tang X, Zhao T, et al.

    World journal of urology 2025; (44(1)):51 doi:10.1007/s00345-025-06143-w.

    PMID: 41405601
  17. 17

    Family functioning in adolescents and young adults with differences of sex development.

    Papadakis JL, Buchanan CL, Chan YM, et al.

    Journal of pediatric psychology 2025; (50(2)):233-242 doi:10.1093/jpepsy/jsae106.

    PMID: 39864406
  18. 18

    Psychological support for individuals with differences of sex development (DSD).

    Bennecke E, Strandqvist A, De Vries A, et al.

    Journal of psychosomatic research 2024; (179()):111636 doi:10.1016/j.jpsychores.2024.111636.

    PMID: 38507969

This page provides educational information about 46,XX ovotesticular DSD and does not replace professional medical advice. Always consult your multidisciplinary care team for guidance tailored to your specific health needs.

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