Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 20 peer-reviewed journal articles Updated
Pediatric Endocrinology

Medical Management and Surgical Decisions

At a Glance

Modern medical management of 46,XX ovotesticular DSD prioritizes a multidisciplinary team approach and patient autonomy. Current guidelines strongly recommend watchful waiting and delaying non-essential genital surgeries until the individual is old enough to make their own medical decisions.

Medical management for 46,XX ovotesticular DSD has undergone a profound shift in recent decades. While the historical approach often prioritized immediate “normalization” through early childhood surgery, modern medicine now emphasizes patient autonomy—the right of the individual to make decisions about their own body [1][2].

The Multidisciplinary Team (MDT)

Because DSDs involve genetics, hormones, surgery, and psychology, no single doctor should manage care alone. The gold standard is a Multidisciplinary Team (MDT) [3][4]. This team typically includes:

  • Pediatric Endocrinologist: Monitors hormone levels and manages Hormone Replacement Therapy (HRT) if the body doesn’t produce enough hormones during puberty [5][6].
  • Pediatric Urologist: Specializes in the anatomy of the urinary and reproductive tracts [7][8].
  • Psychologist/Social Worker: Provides essential emotional support to navigate the social and personal aspects of the diagnosis [9][10].
  • Geneticist: Helps interpret the “genetic switches” involved in unique development [11].

The Shift in Surgical Consensus

The decision of when—or if—to perform surgery is a significant choice. International guidelines are moving away from early, non-essential genital surgery [12][13].

  • Then (2006 Consensus): Historically, doctors often recommended early surgery to “simplify” a child’s life and reduce parental distress [14][12].
  • Now (Current Guidelines): Modern experts advocate for shared decision-making and often recommend delaying irreversible procedures until the individual is old enough to participate in the conversation [12][1]. This protects the “right to an open future” and ensures that any surgery aligns with the patient’s own gender identity [1][15].

Caution: If a practitioner suggests that an infant needs “cosmetic” or “normalizing” surgery immediately and dismisses the option of waiting, consider seeking a second opinion from a specialized DSD center that follows the latest multidisciplinary guidelines [16][3]. For patients diagnosed in adolescence or adulthood, you are in the driver’s seat of your surgical choices, and these decisions should never be rushed.

Monitoring and Hormones

Surgery is not the only way to manage 46,XX OT-DSD. Much of the care will involve “watchful waiting”:

  • Spontaneous Puberty: Many individuals with ovotesticular DSD produce enough of their own hormones to go through puberty naturally [17][1].
  • Hormone Support (HRT): If the gonads do not produce adequate hormones (estrogen or testosterone), or if they produce a “mixed” profile that causes distress, an endocrinologist will prescribe HRT. During watchful waiting, signs that natural hormones aren’t sufficient include delayed growth spurts, lack of breast development, or unexpected voice changes. HRT supports bone health, growth, and the development of desired secondary sex characteristics [5][18].
  • Cancer Risk: While the risk of cancer (gonadal malignancy) is generally low in 46,XX cases, the team will perform regular check-ups to ensure the tissue remains healthy [19][17].

The goal of medical care is not to “fix” an individual, but to ensure they are healthy, confident, and empowered to take the lead in their own medical journey [1][20].

Common questions in this guide

What kind of doctors treat ovotesticular DSD?
The gold standard for care is a multidisciplinary team. This team typically includes a pediatric endocrinologist, a pediatric urologist, a psychologist or social worker, and a geneticist to provide comprehensive, well-rounded support.
Should an infant or child with 46,XX ovotesticular DSD have genital surgery?
Current medical guidelines recommend delaying non-essential or cosmetic genital surgery until the child is old enough to participate in the decision. This protects their right to make choices that align with their own gender identity later in life.
Will someone with ovotesticular DSD need hormone replacement therapy?
Not always. Many individuals produce enough of their own hormones to go through puberty naturally. If natural hormones are insufficient, an endocrinologist will prescribe hormone replacement therapy to support healthy growth and development.
How do I know if natural hormones aren't sufficient during puberty?
Signs that the body may not be producing enough of the right hormones include delayed growth spurts, lack of breast development, or unexpected voice changes. An endocrinologist can monitor hormone levels through regular blood tests.
Is there a high risk of cancer with 46,XX ovotesticular DSD?
The risk of gonadal malignancy (cancer in the reproductive tissue) is generally low in 46,XX cases. However, a medical team will still perform regular check-ups to monitor the tissue and ensure it remains healthy over time.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How does our multidisciplinary team handle disagreements between specialists or with us as the patient/family?
  2. 2.Is there any life-threatening or medically urgent reason to perform surgery right now?
  3. 3.If we choose to wait, what does the monitoring schedule look like over the next few years?
  4. 4.How do you monitor hormone levels to determine if or when hormone replacement therapy is needed?
  5. 5.What physical signs should we look for that might indicate natural hormones aren't sufficient?

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 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

    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
  3. 3

    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
  4. 4

    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
  5. 5

    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
  6. 6

    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
  7. 7

    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
  8. 8

    Robotic excision of vaginal pouch in ovotesticular disorder of sexual development.

    Singh P, Kumar S, Panaiyadiyan S, Dogra PN

    International braz j urol : official journal of the Brazilian Society of Urology 2022; (48(6)):994-995 doi:10.1590/S1677-5538.IBJU.2022.0038.

    PMID: 36037259
  9. 9

    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
  10. 10

    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
  11. 11

    Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis.

    Unal E, Tekmenuray-Unal A, Cayir A, et al.

    The Journal of clinical endocrinology and metabolism 2025; (110(10)):e3482-e3488 doi:10.1210/clinem/dgaf020.

    PMID: 39812180
  12. 12

    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
  13. 13

    Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.

    Timmermans S, Yang A, Gardner M, et al.

    Journal of health and social behavior 2018; (59(4)):520-535 doi:10.1177/0022146518802460.

    PMID: 30303019
  14. 14

    [Disorders of sex differentiation: state of the problem 15 years after the Chicago consensus].

    Shiryaev ND, Kagantsov IM, Sizonov VV

    Problemy endokrinologii 2020; (66(3)):70-80 doi:10.14341/probl12514.

    PMID: 33351341
  15. 15

    Ethical issues in decision-making for infants with disorders of sex development.

    Kon AA

    Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015; (47(5)):340-3 doi:10.1055/s-0035-1547269.

    PMID: 25970711
  16. 16

    Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

    Mouriquand PD, Gorduza DB, Gay CL, et al.

    Journal of pediatric urology 2016; (12(3)):139-49.

    PMID: 27132944
  17. 17

    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
  18. 18

    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
  19. 19

    Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development.

    Yang H, Tian H, Wu D, et al.

    Hormone research in paediatrics 2025; 1-9 doi:10.1159/000548934.

    PMID: 41108712
  20. 20

    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

This page provides information on the medical and surgical management of 46,XX ovotesticular DSD for educational purposes only. Always consult a specialized multidisciplinary care team for personalized medical guidance.

Get notified when new evidence is published on 46,XX ovotesticular difference of sex development.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.