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PubMed This is a summary of 17 peer-reviewed journal articles Updated
Endocrinology

Building Your Care Team

At a Glance

Optimal care for 46,XY difference of sex development (DSD) requires a multidisciplinary team at a specialized center. Key specialists include an endocrinologist, urologist, geneticist, and psychologist working together to support shared decision-making and comprehensive health.

Because 46,XY DSD is rare and complex, care should not rest on the shoulders of a single doctor. Standard pediatricians or local urologists may only see one or two cases in their entire career [1]. Current guidelines recommend management by a Multidisciplinary Team (MDT) at a specialized, high-volume center [2][1]. These centers provide expertise and coordination that generalized care cannot match, leading to better long-term physical and psychological outcomes [3][4].

The Core Care Team

A comprehensive DSD team brings together experts from different fields to treat the whole person [5][6].

  • Endocrinologist: Focuses on the hormones (like testosterone and estrogen) that drive growth, puberty, and bone health [7].
  • Urologist or Surgeon: Specializes in the anatomy of the reproductive and urinary systems [1].
  • Medical Geneticist: Helps interpret complex DNA tests (like NGS or WES) to pinpoint the specific biological cause [8][9].
  • Psychologist or Social Worker: An integral part of the team who provides emotional support, helps process grief or feelings of difference, and aids in body image and identity affirmation [10][11].
  • Team Coordinator: Ensures that appointments are aligned and that communication between specialists is seamless [1].

Why Specialized Centers Matter

Specialized centers follow standardized protocols and participate in research that keeps them at the forefront of care [3]. They are more likely to support shared decision-making, a process where you and the medical team work together to make choices that respect bodily autonomy and personal values [12][2]. These teams are also better equipped to navigate the complex shift from pediatric to adult care [1].

First Visit Preparation Checklist

To make the most of a consultation, gather “The Big Three”: genetic, hormonal, and physical records [13][1].

1. Genetic Reports

  • Karyotype: The test confirming “46,XY.”
  • Molecular Testing: Full results from any gene panels (NGS) or Whole Exome Sequencing (WES) [8].

2. Hormonal & Biochemical Labs

  • Basal Levels: Early blood tests for testosterone, DHT, and LH/FSH [14].
  • Stimulation Tests: Results from any HCG stimulation tests, measuring how the testes respond to hormones [14].

3. Imaging & Physical Exams

  • Ultrasound/MRI Reports: Scans looking for internal structures like a uterus or the location of the gonads [15][16].
  • Physical Exam Notes: Clinical notes describing the external anatomy over time [13].

Vetting the Team

Don’t be afraid to interview the medical team. Look for a group that is experienced, transparent, and respectful. Use these specific questions to gauge their expertise:

  1. Experience: “How many other patients with this specific diagnosis (e.g., Complete AIS) do you currently care for?”
  2. Psychology: “Is there a psychologist who will be an active part of our care, or is mental health only addressed if there’s a problem?” [10]
  3. Autonomy: “What is the team’s policy on performing elective surgeries before a patient can give their own consent?” [17]
  4. Privacy: “How do you ensure patient privacy during sensitive exams, especially regarding medical students?”

Common questions in this guide

Why do I need a specialized care team for 46,XY DSD?
Because 46,XY DSD is rare and complex, standard doctors may only see a few cases in their entire career. A multidisciplinary team at a specialized center provides coordinated expertise, leading to better long-term physical and psychological outcomes.
Which doctors should be on a 46,XY DSD care team?
A comprehensive team typically includes an endocrinologist, a urologist or surgeon, a medical geneticist, and a psychologist or social worker. A team coordinator is also essential to ensure all these specialists communicate and work together seamlessly.
What medical records should I bring to my first DSD consultation?
You should gather genetic reports like a karyotype, hormonal and biochemical lab results, and imaging reports such as ultrasounds or MRIs. Having these detailed records ready allows your new team to understand your specific biology right away.
Should a mental health professional be part of my 46,XY DSD care?
Yes, a psychologist or social worker is an integral part of the care team. They provide vital emotional support, help process feelings of difference, and assist with body image and identity affirmation.
How do I know if a medical team is qualified to treat 46,XY DSD?
Ask the team how many patients with your specific diagnosis they currently treat and how they handle shared decision-making. It is also important to ask about their policies on bodily autonomy, patient privacy, and mental health integration.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many patients with this specific diagnosis does the team currently manage?
  2. 2.Who serves as the primary coordinator for appointments across the different specialists?
  3. 3.What is the team’s philosophy regarding the timing of genital surgery versus waiting for the patient's input?
  4. 4.Is there a dedicated psychologist or social worker who specializes in DSD to support mental health?
  5. 5.What are the team's policies on patient privacy, particularly regarding physical exams by medical students or trainees?

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 (17)
  1. 1

    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
  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

    "Good practices" in pediatric clinical care for disorders/differences of sex development.

    Kavanaugh GL, Mohnach L, Youngblom J, et al.

    Endocrine 2021; (73(3)):723-733 doi:10.1007/s12020-021-02748-4.

    PMID: 34021489
  4. 4

    Development of Quality Indicators to Evaluate the Quality of Care for People with Differences of Sex Development.

    Jürgensen M, Jürgensen M, Rapp M, et al.

    Hormone research in paediatrics 2025; (98(6)):699-708 doi:10.1159/000540596.

    PMID: 39074461
  5. 5

    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
  6. 6

    Role of cross-campus multidisciplinary team meetings in decision-making for children and adolescents with differences of sex development/intersex.

    Vora KA, Hanna CA, Neville KA, et al.

    Journal of paediatrics and child health 2021; (57(9)):1402-1407 doi:10.1111/jpc.15474.

    PMID: 33928709
  7. 7

    Primary gonadal failure.

    Ladjouze A, Donaldson M

    Best practice & research. Clinical endocrinology & metabolism 2019; (33(3)):101295 doi:10.1016/j.beem.2019.101295.

    PMID: 31327696
  8. 8

    Approach to Disorders of Sex Development in the Genomic Era.

    Priyadarshini S, Sharma R, Menon PSN

    Indian journal of pediatrics 2026; doi:10.1007/s12098-025-05888-x.

    PMID: 41555119
  9. 9

    Genetics of human sexual development and related disorders.

    Martinez de LaPiscina I, Flück CE

    Current opinion in pediatrics 2021; (33(6)):556-563 doi:10.1097/MOP.0000000000001066.

    PMID: 34654048
  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

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

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

    Endocrine journal 2026; (73(2)):291-340 doi:10.1507/endocrj.EJ25-0392.

    PMID: 41338999
  12. 12

    Defining Success in the Delivery of Fertility-Related Care for Patients with Differences of Sex Development.

    Streich-Tilles T, Morrison A, Schafer-Kalkhoff T, et al.

    Hormone research in paediatrics 2026; (99(1)):81-90 doi:10.1159/000541029.

    PMID: 39186929
  13. 13

    Role of the pediatrician in the initial management of a newborn with Differences of Sex Development or hypospadias.

    van der Straaten S, Syryn H, Dessens A, et al.

    European journal of pediatrics 2025; (184(5)):307 doi:10.1007/s00431-025-06140-6.

    PMID: 40261419
  14. 14

    Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty: An Ongoing Debate?

    Bizzarri C, Cappa M

    Frontiers in endocrinology 2020; (11()):187 doi:10.3389/fendo.2020.00187.

    PMID: 32318025
  15. 15

    Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force.

    Avni FE, Lerisson H, Lobo ML, et al.

    Pediatric radiology 2019; (49(9)):1240-1247 doi:10.1007/s00247-019-04414-4.

    PMID: 31123767
  16. 16

    Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy.

    Alaniz VI, Kobernik EK, Dillman J, Quint EH

    Journal of pediatric and adolescent gynecology 2016; (29(6)):577-581 doi:10.1016/j.jpag.2016.03.007.

    PMID: 27079912
  17. 17

    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

This page is for informational purposes only to help you navigate medical care for 46,XY DSD. It does not replace professional medical advice from a qualified multidisciplinary care team.

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