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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • University Hospital Montpellier

    RECRUITING

    Montpellier, 34000, France