Reading the genetic code to understand differences in sex development

NCT ID NCT03102554

ENROLLING_BY_INVITATION Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

First seen Jul 22, 2026 · Last updated Jul 23, 2026 · Updated 1 time

Summary

This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how receiving genetic results affects parents' stress, anxiety, and decision-making.

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 research could improve genetic testing and counseling for families affected by differences in sex development.
What could go wrong: This is an observational study, not a treatment trial. It may not identify new genetic causes, and the impact on families is uncertain.

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Conditions

The condition(s) this trial relates to.

disorder of sexual differentiation hypospadias

As listed by the trial registrant

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

DISORDERS OF SEX DEVELOPMENT HYPOSPADIAS

Contacts and locations

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Locations

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

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