New DNA scan may unlock mysteries of sex development disorders

NCT ID NCT05867979

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find hidden genetic changes in people with disorders of sex development (DSD) whose standard genetic tests came back normal. Researchers will use a new technique called Optical Genome Mapping on a blood sample from 20 participants. The goal is to see if this method can detect genetic variants that other tests miss, which could improve future diagnosis.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this could improve genetic testing for people with unexplained DSD, leading to better diagnosis and personalized care.

What could go wrong

This is a very small, early-stage study (20 people) that only looks for genetic variants—it does not test any treatment. The new technique may not find more causes than existing methods.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

46,XY disorder of sex development disorder of sexual differentiation

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University Hospital Montpellier

    RECRUITING

    Montpellier, 34000, France

    Contact

    Contact

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