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

Planning for the Future: Puberty, Fertility, and Adulthood

At a Glance

Individuals with 46,XY ovotesticular DSD may go through puberty naturally or need hormone replacement therapy. Lifelong care requires routine tumor screening and hormone checks. While biological parenthood is highly unlikely, families can build their futures through assisted reproduction or adoption.

As a patient moves from childhood into adolescence and young adulthood, the focus of care shifts from initial diagnosis toward managing puberty, fertility, and emotional well-being [1][2]. With a solid, long-term plan in place, individuals with 46,XY Ovotesticular DSD can manage their health effectively.

Navigating Puberty

Puberty is a time of significant change, and for someone with OT-DSD, it can follow several different paths depending on which gonadal tissues are present and active [3].

  • Spontaneous Puberty: If functional ovarian or testicular tissue has been preserved, spontaneous puberty may occur [4]. In some cases, this can lead to unexpected physical developments. For example, a patient may experience gynecomastia (breast development) [5]. Additionally, if a uterus and active ovarian tissue are present, the patient may experience unexpected menstruation (cyclic bleeding) [6]. Knowing these physical changes are possible helps you prepare and discuss management options with your doctor.
  • Hormone Support: Many individuals with DSD experience primary gonadal insufficiency—meaning the gonads don’t produce enough hormones to complete puberty [3]. In these cases, Hormone Replacement Therapy (HRT) is used to ensure healthy bone growth and the development of secondary sex characteristics that align with the person’s gender identity [7][8].

Long-Term Health Surveillance

Regular monitoring is essential to ensure the health of any preserved gonadal tissue, especially given the increased tumor risk associated with the Y chromosome. Establishing a routine helps manage “scan anxiety” by making health checks predictable.

Monitoring Type What It Checks Frequency (Typical)
Imaging (Note: Modality—Ultrasound vs MRI—varies depending on whether gonads are in the abdomen or scrotum [9]) Checks for changes in tissue size or structure [10]. Every 6–12 months [9].
Blood Markers Looks for proteins (like AFP or hCG) related to tumor risk [11]. Annually or as directed.
Hormone Panels Measures AMH, LH, FSH, and testosterone/estrogen [3][12]. Every 6–12 months during puberty.
Physical Exams General health and pubertal progress [2]. At every specialist visit.

Fertility: Possibilities for the Future

When thinking about the future, it is important to have realistic, scientifically accurate expectations regarding fertility.

  • Biological Parenthood: Because the presence of the Y chromosome typically prevents the ovarian tissue from producing viable eggs and the testicular tissue from producing viable sperm, biological parenthood using the patient’s own genetics is highly unlikely in 46,XY OT-DSD [13][8].
  • Assisted Reproduction: Families can still be built beautifully. Many individuals pursue Assisted Reproduction using donor eggs or donor sperm, or choose to pursue adoption [13]. Discussing these options early can help set healthy expectations for adulthood.

Psychological Health and Transition

The transition from pediatric to adult care is a major milestone. Success during this period is rooted in empowerment and open communication [14][15].

  • Integrated Support: Psychological support should be a core part of the care team [1][16]. Adolescents and young adults benefit from having a safe space to discuss body image, romantic milestones, and their diagnosis [17][14].
  • Openness: Research shows that young adults who grow up with an age-appropriate, honest understanding of their condition tend to have better psychological outcomes and higher satisfaction with their medical care [14][18].
  • Peer Connection: Connecting with advocacy and support groups (such as interACT or the AIS-DSD Support Group) can provide a vital sense of community and dramatically reduce feelings of isolation [18].

Common questions in this guide

Will my child go through a natural puberty with 46,XY ovotesticular DSD?
Puberty may occur spontaneously if functional ovarian or testicular tissue is present, which can sometimes cause unexpected changes like breast development or cyclic bleeding. However, many individuals will require hormone replacement therapy to complete puberty and develop secondary sex characteristics.
Can someone with 46,XY OT-DSD have biological children?
Because the Y chromosome typically prevents the gonads from producing viable eggs or sperm, biological parenthood using your own genetics is highly unlikely. However, many individuals build families using assisted reproduction with donor cells or through adoption.
Why do I need routine imaging and blood tests?
Regular monitoring is necessary because the presence of a Y chromosome increases the risk of developing gonadal tumors. Routine ultrasounds or MRIs, along with blood tests for tumor markers, help detect any dangerous changes in the preserved gonadal tissue early on.
How do we plan for the transition from pediatric to adult DSD care?
A successful transition requires an integrated support plan developed with your multidisciplinary care team. This includes moving to adult-centered endocrinology and psychological care, establishing routine health surveillance, and connecting with peer support groups to maintain emotional well-being.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific biomarkers (like AMH or Inhibin B) will we use to track gonadal function and health?
  2. 2.At what age should we begin formal discussions about hormone replacement or puberty suppression?
  3. 3.Does our multidisciplinary team have a formal transition plan for moving from pediatric to adult-centered care?
  4. 4.Can you recommend a psychologist who specializes in sexual development and DSD?
  5. 5.If I or my child experience unexpected pubertal changes (like gynecomastia or menstruation), what are our immediate medical options?

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

    Approach to the patient: comprehensive multidisciplinary care for adolescents with difference in sex development (DSD).

    Claahsen-van der Grinten HL, van Herwaarden A, Kempers M, et al.

    The Journal of clinical endocrinology and metabolism 2026; (111(4)):e1183-e1194 doi:10.1210/clinem/dgag023.

    PMID: 41572650
  2. 2

    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
  3. 3

    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
  4. 4

    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
  5. 5

    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
  6. 6

    Ovotestis in Adolescence: 2 Case Reports.

    Chouhan JD, Chu DI, Birs A, et al.

    Urology 2017; (105()):171-174 doi:10.1016/j.urology.2017.04.009.

    PMID: 28412334
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    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
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    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
  9. 9

    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
  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

    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
  12. 12

    Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.

    Edelsztein NY, Grinspon RP, Schteingart HF, Rey RA

    International journal of pediatric endocrinology 2016; (2016()):20 doi:10.1186/s13633-016-0038-2.

    PMID: 27799946
  13. 13

    Successful in Vitro Fertilization Pregnancy and Delivery by an Infertile Woman with Ovotesticular Disorder of Sex Development: A Case Report.

    Matsuda S, Kuwabara Y, Kato R, et al.

    Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2023; (90(2)):240-244 doi:10.1272/jnms.JNMS.2023_90-202.

    PMID: 35082211
  14. 14

    Healthcare communication satisfaction and psychosocial outcomes in adolescents and young adults with differences of sex development.

    Liles SM, Crerand CE, Buchanan C, et al.

    Patient education and counseling 2024; (125()):108294 doi:10.1016/j.pec.2024.108294.

    PMID: 38669761
  15. 15

    Challenges Waiting for an Adult with DSD.

    Nowotny HF, Reisch N

    Hormone research in paediatrics 2023; (96(2)):207-221 doi:10.1159/000527433.

    PMID: 36473446
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    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
  17. 17

    First Adolescent Romantic and Sexual Experiences in Individuals With Differences of Sex Development/Intersex Conditions.

    de Brouwer IJ, Suijkerbuijk M, van de Grift TC, Kreukels BPC

    The Journal of adolescent health : official publication of the Society for Adolescent Medicine 2022; (71(6)):688-695 doi:10.1016/j.jadohealth.2022.07.012.

    PMID: 36088232
  18. 18

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

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    PMID: 39864406

This page provides educational information on managing puberty and adulthood with 46,XY OT-DSD. It does not replace professional medical advice. Always consult your multidisciplinary healthcare team for personalized fertility and health surveillance plans.

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