Italian study checks how well newborn screening detects rare hormone disorder

NCT ID NCT06728748

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

Summary

This completed study looked at newborn screening for congenital adrenal hyperplasia (CAH) in Italy. Researchers reviewed medical records of 29 infants diagnosed with classic CAH between 2006 and 2019 to see how accurate the screening was. The goal was to measure the screening's sensitivity and positive predictive value, and to describe the babies' health at 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 help improve newborn screening programs for congenital adrenal hyperplasia, leading to earlier diagnosis and better outcomes.
What could go wrong
This is a small, retrospective study with only 29 participants, so results may not apply to larger or different populations. It does not test a new treatment.

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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

  • Azienda Ospedaliera Città della Salute e della Scienza di Torino

    Torino, Torino, 10123, Italy

  • Azienda Ospedaliera Universitaria Integrata Verona:

    Verona, Verona, 37126, Italy

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    Bologna, Bologna, 40138, Italy

  • IRCCS Ospedale San Raffaele

    Milan, Milano, 20132, Italy

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