Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy

Scientific Institute for Research Hospitalization and Healthcare (IRCCS)

Status: Enrolling

Conditions: Congenital Adrenal Hyperplasia

Study type: Observational

Funder types: Other

Identifiers

NCT06728748

ISCREEN

Details and patient eligibility

About

Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.

Full description

The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study.

The primary aims are: to assess the incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period; to calculate the sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia; to calculate the positive predictive rate. The secondary aims are: to describe the biochemical, hormonal, and clinical features of neonates at diagnosis of Congenital Adrenal Hyperplasia; to assess the time required for diagnosis; to calculate the false positive rate; to calculate the diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia.

Enrollment: 160 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Neonatal who underwent neonatal screening for congenital adrenal hyperplasia between January 2006 and December 2019 at participating centres;
• Patients diagnosed with Congenital Adrenal Hyperplasia;
• Obtaining informed consent.

Exclusion criteria

• None.