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Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.
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.
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| 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 |
| 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) |
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Inclusion Criteria:
Exclusion Criteria:
• None.
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Federico Baronio, MD | IRCCS Azienda Ospedaliero-Universitaria di Bologna | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna | Bologna | Bologna | 40138 | Italy | ||
| IRCCS Ospedale San Raffaele |
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| ID | Term |
|---|---|
| D000312 | Adrenal Hyperplasia, Congenital |
| ID | Term |
|---|---|
| D047808 | Adrenogenital Syndrome |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| 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 |
| Milan |
| Milano |
| 20132 |
| Italy |
| Azienda Ospedaliera Città della Salute e della Scienza di Torino | Torino | Torino | 10123 | Italy |
| Azienda Ospedaliera Universitaria Integrata Verona: | Verona | Verona | 37126 | Italy |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D043202 | Steroid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000307 | Adrenal Gland Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |