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

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

Study Overview

• Status: Completed
• Conditions: Congenital Adrenal Hyperplasia

Detailed 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.

• Study Type: Observational
• Enrollment (Actual): 29

Contacts and Locations

Study Locations

• Italy
  • Bologna
    • Bologna, Bologna, Italy, 40138
      • IRCCS Azienda Ospedaliero-Universitaria di Bologna
  • Milano
    • Milan, Milano, Italy, 20132
      • IRCCS Ospedale San Raffaele
  • Torino
    • Torino, Torino, Italy, 10123
      • Azienda Ospedaliera Città della Salute e della Scienza di Torino
  • Verona
    • Verona, Verona, Italy, 37126
      • Azienda Ospedaliera Universitaria Integrata Verona:

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period	number of patients diagnosed with classic Congenital Adrenal Hyperplasia between January 2006 and December 2019	at baseline
Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia	Sensibility of Neonatal Screening	at baseline
Positive predictive rate	TP / (TP + FP)	at baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia	gestational age (weeks)	at baseline
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia	neonatal weight (g)	at baseline
Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia	serum electrolytes	at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia	blood renin value (microU/mL)	at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia	blood plasma values of 17α-hydroxyprogesterone (ng/dL)	at baseline
Time required for diagnosis of Congenital Adrenal Hyperplasia	Time required for diagnosis	at baseline
False positive rate	TP / (TP + FP)	at baseline
Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia	ratio between the number of subjects with a suspected diagnosis and the number of subjects in whom the diagnosis was not suspected	at baseline

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Federico Baronio, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

Study Major Dates

• Study Start (Actual): October 23, 2020
• Primary Completion (Actual): December 31, 2024
• Study Completion (Actual): September 15, 2025

Study Registration Dates

• First Submitted: December 3, 2024
• First Submitted That Met QC Criteria: December 6, 2024
• First Posted (Actual): December 11, 2024

Study Record Updates

• Last Update Posted (Actual): March 12, 2026
• Last Update Submitted That Met QC Criteria: March 11, 2026
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Congenital Adrenal Hyperplasia
• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Gonadal Disorders; Congenital Abnormalities; Adrenal Gland Diseases; Disorders of Sex Development; Urogenital Abnormalities; Steroid Metabolism, Inborn Errors; Adrenogenital Syndrome; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Adrenal Hyperplasia, Congenital
• Other Study ID Numbers: ISCREEN

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No