Fertility, Puberty, and Long-Term Health
At a Glance
Individuals with 46,XX ovotesticular DSD cannot produce sperm due to the lack of a Y chromosome, but often have functional ovarian tissue and a uterus. Pregnancy is possible using preserved ovarian tissue and IVF, while puberty is managed with regular hormone monitoring and potential therapy.
Planning for the future involves looking at the long-term milestones of puberty, health, and the possibility of a family. For individuals with 46,XX Ovotesticular DSD, the outlook is increasingly hopeful, with many pathways to a healthy and fulfilling life [1][2].
Understanding Fertility Limits and Possibilities
One of the most important aspects of modern care is understanding and preserving future fertility. The biological reality of a 46,XX karyotype means there are specific limitations and possibilities:
- Male Infertility: Because a 46,XX individual lacks the Y chromosome, they also lack specific genes responsible for sperm production (such as the AZF region). Therefore, the testicular tissue in a 46,XX individual cannot produce mature sperm.
- Female Fertility Potential: On the other hand, the ovarian tissue can be fully functional and produce healthy eggs [3][4]. Additionally, in many 46,XX cases, a uterus is present, which is a key factor in the ability to carry a pregnancy [5].
Because biological fatherhood via sperm production is not genetically possible, modern medical teams prioritize gonad-sparing surgery to preserve the ovarian tissue. If spontaneous conception is difficult, Assisted Reproductive Technology (ART), such as IVF (In Vitro Fertilization), has been used successfully to help individuals with ovotesticular DSD have biological children [6][7].
Navigating Puberty
Puberty is a window into how the body’s hormones are functioning. The multidisciplinary team will monitor this stage closely:
- Watchful Waiting: Many individuals will go through puberty naturally. However, without hormone monitoring, signs of puberty can be “mixed” (the body might show physical signs of both estrogen and testosterone production, such as breast development alongside facial hair).
- Hormone Monitoring: A pediatric endocrinologist tracks hormone levels to ensure growth and bone health are on track. If the body’s hormone production is low, delayed, or mixed in a way that causes distress, Hormone Replacement Therapy (HRT) is used to support the desired pubertal path [8][4][9]. Signs that HRT might be needed include a lack of a growth spurt or delayed secondary sex characteristics.
Understanding and Managing Cancer Risk
It is natural to worry about “malignancy” (cancer) when discussing atypical tissue. However, in the specific case of 46,XX ovotesticular DSD, the risk is generally considered relatively low, especially compared to other types of DSD [10][3].
- Low Risk in SRY-Negative Cases: If the patient is SRY-negative (the most common form of this condition), the risk of germ cell tumors is lower than in cases where a Y chromosome is present [10].
- Proactive Screening: Rather than removing healthy tissue “just in case,” doctors now prefer regular monitoring. This usually involves periodic ultrasounds to check the appearance of the gonads and blood tests to check for specific markers [10][4][2].
By focusing on preservation and careful monitoring, the medical team is working to keep as many doors open as possible for the future [2][11].
Common questions in this guide
Can someone with 46,XX ovotesticular DSD have biological children?
How is puberty managed in 46,XX ovotesticular DSD?
What is the cancer risk for 46,XX ovotesticular DSD?
What is gonad-sparing surgery?
Will my child need hormone replacement therapy?
Questions to Ask Your Doctor
Curated prompts to bring to your next appointment.
- 1.Based on the tissue type found in the gonads, what is the likelihood of spontaneous puberty?
- 2.What is the plan for long-term cancer screening (e.g., how often will we do ultrasounds or blood tests)?
- 3.If we choose gonad-sparing surgery, how much functional ovarian tissue can realistically be preserved?
- 4.Is there a uterus present, and how does that affect future fertility options?
- 5.At what age should we start seeing a reproductive specialist to talk about fertility preservation?
Questions For You
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References
References (11)
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PMID: 41509147 - 2
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Syryn H, Van De Vijver K, Cools M
Hormone research in paediatrics 2023; (96(2)):180-189 doi:10.1159/000519323.
PMID: 34469891 - 3
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Elsa Mathew U, Arun CS, George V, et al.
JCEM case reports 2025; (3(8)):luaf115 doi:10.1210/jcemcr/luaf115.
PMID: 40520042 - 4
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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 - 5
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 - 6
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 - 7
Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases.
Chen T, Tian L, Wu F, et al.
Andrologia 2019; (51(4)):e13232 doi:10.1111/and.13232.
PMID: 30623467 - 8
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 - 9
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 - 10
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 - 11
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
This page provides information on fertility and long-term health for 46,XX ovotesticular DSD for educational purposes only. Always consult your endocrinologist and reproductive specialist for personalized medical care and monitoring.
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