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 23 peer-reviewed journal articles Updated
Endocrinology

Standard of Care: Hormones, Surgery, and Your Care Team

At a Glance

The standard of care for 46,XX testicular DSD involves a multidisciplinary team to manage lifelong health. Primary treatments include Testosterone Replacement Therapy (TRT) to support bone and metabolic health, alongside highly individualized, non-emergency surgical options for anatomical variations.

The standard of care for 46,XX Testicular DSD has evolved significantly in recent years. Today, management is not just about a single doctor or a single surgery; it is a lifelong partnership between you and a specialized multidisciplinary team. This team approach ensures that all aspects of your health—physical, hormonal, and emotional—are addressed in a coordinated way. [1][2]

Your Core Care Team

Because this condition affects multiple systems in the body, your care team should include experts from several different fields:

  • Endocrinologist: The “hormone specialist” who monitors your testosterone levels, bone health, and metabolic profile. [3][4]
  • Urologist: A surgeon who specializes in the urinary and reproductive tracts, helping to manage anatomical variations and monitoring testicular health. [5][3]
  • Geneticist/Genetic Counselor: Provides detailed information about the specific genetic cause (such as SRY-positive or SRY-negative) and explains what this means for your health and family planning. [4][6]
  • Psychologist or Social Worker: An essential team member who provides emotional support, helps navigate the diagnosis, and assists in making informed decisions about care. [2][6]

Hormone Management: The Role of Testosterone

Many individuals with 46,XX Testicular DSD will experience hypogonadism (low testosterone). Testosterone Replacement Therapy (TRT) is the primary tool used to manage this. [7][3]

The goals of TRT go far beyond just physical appearance; they are critical for long-term vitality:

  • Bone Health: Testosterone helps maintain bone mineral density. Without it, there is a higher risk of developing osteoporosis (weak bones) over time. [8][9]
  • Body Composition: TRT helps increase lean muscle mass and decrease body fat, which supports overall metabolic health. [10][11]
  • Quality of Life: Restoring testosterone to typical levels can significantly improve energy, mood, and libido (sexual drive). [12][13]

How TRT is Administered

Taking testosterone is a lifelong commitment, but you have options that fit your daily life. The most common methods include:

  • Topical Gels: Applied daily to the skin, providing a steady dose of hormones.
  • Injections: Given every week or every few weeks, often self-administered at home.
  • Pellets: Small implants placed under the skin every few months by a doctor.

Monitoring Your Health on TRT

Once treatment begins, your team will regularly monitor your health to ensure the dose is safe and effective. This includes:

  • Blood tests: Checking hematocrit levels to ensure the blood doesn’t become too thick. [14]
  • Bone Density: Using DEXA scans to monitor bone strength. [8]
  • Prostate Health: Adult men will undergo routine PSA (Prostate-Specific Antigen) screenings, as testosterone can affect the prostate.
  • Side Effects Check: Your doctor will also ask about potential side effects like sleep apnea or skin changes (such as acne), which can be managed by adjusting your dose.

Surgical Considerations

Surgery in 46,XX Testicular DSD is highly individualized. It is no longer considered an emergency and should involve thorough discussion between the medical team, parents, and, when possible, the patient. [1][15]

Hypospadias and Anatomical Variations

If an individual is born with hypospadias (where the urinary opening is not at the tip of the penis), a urologist may discuss surgical repair. For more complex cases, a two-stage surgery is often recommended to achieve the best long-term functional and aesthetic results. [16][17]

Gynecomastia Management

For individuals who experience gynecomastia (enlargement of breast tissue) during puberty, male breast reduction surgery is a standard, safe, and effective option if the tissue causes physical discomfort or emotional distress. [18]

The Prostatic Utricle

Some individuals with 46,XX DSD may have a prostatic utricle, a small, blind-ending pouch near the urethra. [19]

  • Diagnosis: Doctors may use a preoperative endoscopy (or cystoscopy) to look inside the urethra before surgery. This allows them to identify and measure the utricle. [20]
  • Management: Most utricles are asymptomatic and do not require treatment. However, if they are large and cause recurrent infections or urinary issues, they can be managed with minimally invasive (laparoscopic) surgery. [21][22]

The ultimate goal of all medical and surgical care is to support the patient’s long-term well-being and to ensure they feel empowered and comfortable in their body. [6][23]

Common questions in this guide

Which doctors should be on my 46,XX DSD care team?
Your multidisciplinary care team should typically include an endocrinologist to manage hormones, a urologist for surgical and reproductive tract care, a geneticist, and a psychologist or social worker for emotional support.
Why is testosterone replacement therapy used for 46,XX DSD?
Testosterone replacement therapy (TRT) is typically recommended if a patient develops hypogonadism, or low testosterone. TRT helps maintain bone mineral density, supports healthy body composition, and improves overall energy and quality of life.
What health screenings are required while taking testosterone?
Routine monitoring during testosterone therapy includes blood tests to check hematocrit levels, DEXA scans to track bone strength, and, for adult men, regular prostate health screenings (PSA tests).
Is surgery required for 46,XX testicular DSD?
Surgery is highly individualized and is not considered a medical emergency. Depending on the patient's specific anatomy, a urologist may recommend procedures for hypospadias, gynecomastia, or an enlarged prostatic utricle, but these are planned carefully based on patient and family goals.
What is a prostatic utricle and does it need to be removed?
A prostatic utricle is a small pouch near the urethra that can be present in some individuals with 46,XX DSD. Most do not cause symptoms and require no treatment, but if a utricle causes frequent urinary infections, it can be removed with minimally invasive surgery.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who will lead our multidisciplinary team, and how do the different specialists coordinate our care?
  2. 2.What are the specific signs that my child (or I) might be ready to start Testosterone Replacement Therapy?
  3. 3.How often will we monitor bone density and hematocrit levels once treatment begins?
  4. 4.Which form of testosterone administration (gels, injections, pellets) do you recommend for my lifestyle?
  5. 5.Will a cystoscopy be performed during surgery to check for a prostatic utricle?

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 (23)
  1. 1

    46,XY ovotesticular disorders of sex development: A therapeutic challenge.

    Scarpa MG, Grazia MD, Tornese G

    Pediatric reports 2017; (9(4)):7085 doi:10.4081/pr.2017.7085.

    PMID: 29285340
  2. 2

    Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.

    Lee PA, Nordenström A, Houk CP, et al.

    Hormone research in paediatrics 2016; (85(3)):158-80 doi:10.1159/000442975.

    PMID: 26820577
  3. 3

    Ten cases with 46,XX testicular disorder of sex development: single center experience.

    Akinsal EC, Baydilli N, Demirtas A, et al.

    International braz j urol : official journal of the Brazilian Society of Urology 2017; (43(4)):770-775 doi:10.1590/S1677-5538.IBJU.2016.0505.

    PMID: 28379671
  4. 4

    Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.

    Yue F, Zhang H, Xi Q, et al.

    Molecular cytogenetics 2019; (12()):44 doi:10.1186/s13039-019-0456-y.

    PMID: 31700544
  5. 5

    Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.

    Gong Y, Yin X, Xu J, et al.

    Frontiers in endocrinology 2025; (16()):1571467 doi:10.3389/fendo.2025.1571467.

    PMID: 40487758
  6. 6

    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
  7. 7

    46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism.

    Chin RT, Mok SF

    JCEM case reports 2025; (3(2)):luae237 doi:10.1210/jcemcr/luae237.

    PMID: 39906899
  8. 8

    Testosterone supplementation and bone parameters: a systematic review and meta-analysis study.

    Corona G, Vena W, Pizzocaro A, et al.

    Journal of endocrinological investigation 2022; (45(5)):911-926 doi:10.1007/s40618-021-01702-5.

    PMID: 35041193
  9. 9

    A Matched Retrospective Analysis: The Relationship Between Testosterone Replacement Therapy and the Incidence of Hip Fractures.

    Peresuh SJ, Arcand PH, Confessore J, et al.

    The Journal of the American Academy of Orthopaedic Surgeons 2026; (34(3)):e370-e375 doi:10.5435/JAAOS-D-24-01334.

    PMID: 40627853
  10. 10

    Perioperative Testosterone Supplementation Improves Outcomes of Orthopaedic Surgeries: A Systematic Review of Heterogeneous Studies.

    Flynn ME, Cohen MF, O'Brien EJ, Domb BG

    Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association 2025; (41(8)):3141-3150 doi:10.1016/j.arthro.2024.12.026.

    PMID: 39732210
  11. 11

    Efficacy and safety of testosterone replacement therapy in men with hypogonadism: A meta-analysis study of placebo-controlled trials.

    Guo C, Gu W, Liu M, et al.

    Experimental and therapeutic medicine 2016; (11(3)):853-863 doi:10.3892/etm.2015.2957.

    PMID: 26998003
  12. 12

    Testosterone replacement therapy.

    Barbonetti A, D'Andrea S, Francavilla S

    Andrology 2020; (8(6)):1551-1566 doi:10.1111/andr.12774.

    PMID: 32068334
  13. 13

    The impact of testosterone in men's health.

    Ide H

    Endocrine journal 2023; (70(7)):655-662 doi:10.1507/endocrj.EJ22-0604.

    PMID: 37045775
  14. 14

    Blood donation and testosterone replacement therapy.

    Chin-Yee B, Lazo-Langner A, Butler-Foster T, et al.

    Transfusion 2017; (57(3)):578-581 doi:10.1111/trf.13970.

    PMID: 28150363
  15. 15

    Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India.

    Jahagirdar R, Khadilkar V, Deshpande R, Lohiya N

    Indian journal of endocrinology and metabolism 2021; (25(1)):48-53 doi:10.4103/ijem.IJEM_520_20.

    PMID: 34386394
  16. 16

    Meta-analysis comparing the outcomes of single stage (foreskin pedicled tube) versus two stage (foreskin free graft & foreskin pedicled flap) repair for proximal hypospadias in the last decade.

    Babu R, Chandrasekharam VVS

    Journal of pediatric urology 2021; (17(5)):681-689 doi:10.1016/j.jpurol.2021.05.014.

    PMID: 34099397
  17. 17

    Application of the modified Byars staged procedure for severe hypospadias repair.

    Xie QG, Xue TT, Chen XR, et al.

    Asian journal of andrology 2025; (27(1)):65-71 doi:10.4103/aja202470.

    PMID: 39238320
  18. 18

    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
  19. 19

    Ectopic opening of vasa deferentia into a prostatic utricle cyst.

    Eshiba A, Kotb M, Abouheba M

    Urology case reports 2022; (45()):102257 doi:10.1016/j.eucr.2022.102257.

    PMID: 36281437
  20. 20

    Cystoscopy to investigate the prevalence of prostatic utricle cyst in boys with proximal hypospadias and its implications in medium-term follow-up.

    Wong YS, Tam YH

    Frontiers in pediatrics 2025; (13()):1514695 doi:10.3389/fped.2025.1514695.

    PMID: 40079031
  21. 21

    [Laparoscopic management of the prostatic utricle cyst in a 4-year-old child].

    Efremenkov AM, Kolmakov OY, Efimova VI, et al.

    Urologiia (Moscow, Russia : 1999) 2020; 132-136.

    PMID: 33377692
  22. 22

    The prostatic utricle: An under-recognized condition resulting in significant morbidity in boys with both hypospadias and normal external genitalia.

    Hester AG, Kogan SJ

    Journal of pediatric urology 2017; (13(5)):492.e1-492.e5 doi:10.1016/j.jpurol.2017.01.019.

    PMID: 28319024
  23. 23

    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

This page explains general treatment options and standards of care for 46,XX testicular DSD for educational purposes only. Always consult your multidisciplinary healthcare team for personalized medical advice.

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

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