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| ID | Type | Description | Link |
|---|---|---|---|
| 324S091 | Other Grant/Funding Number | TUBITAK |
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| Name | Class |
|---|---|
| The Scientific and Technological Research Council of Turkey | OTHER |
| Istanbul University | OTHER |
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This study investigates the etiology of hypertension and endothelial damage in patients with Cytochrome P450 Oxidoreductase (POR) deficiency. The study involves comparing ambulatory blood pressure monitoring (ABPM), endothelial biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide levels), and capillaroscopy findings between POR deficiency patients and healthy controls.
Cytochrome P450 Oxidoreductase (POR) deficiency is a rare autosomal recessive condition associated with congenital adrenal hyperplasia and other systemic complications. This study aims to elucidate the role of endothelial dysfunction and hypertension in POR deficiency by comparing the biochemical, vascular, and clinical parameters of POR-deficient patients with age- and gender-matched healthy controls. The research could pave the way for targeted therapeutic interventions.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| POR deficiency | This group includes 7 pediatric patients with genetically confirmed Cytochrome P450 Oxidoreductase (POR) deficiency under follow-up at Istanbul University, Istanbul Faculty of Medicine. The participants will undergo ambulatory blood pressure monitoring (ABPM), nailfold capillaroscopy, and blood sampling for analysis of endothelial damage biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide). These patients are currently receiving physiologic doses of hydrocortisone as part of their standard care. | ||
| Healthy Control Group | This group consists of 30 healthy children and adolescents recruited from Istanbul University, Istanbul Faculty of Medicine. Participants are age- and gender-matched to the POR deficiency group. They will undergo ambulatory blood pressure monitoring (ABPM), nailfold capillaroscopy, and blood sampling for analysis of endothelial damage biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide). These participants have no known medical conditions or history of chronic illness. |
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| Measure | Description | Time Frame |
|---|---|---|
| Serum Endothelial Biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide) in POR Deficiency Patients Compared to Healthy Controls | This measure evaluates the serum levels of endothelial biomarkers, including Prostaglandin E2, Thromboxane B2, and Nitric Oxide, to determine differences between patients with Cytochrome P450 Oxidoreductase (POR) deficiency and healthy controls. These biomarkers are critical for assessing endothelial dysfunction, which may contribute to hypertension in POR deficiency patients. | Up to 6 months from the start of participant enrollment |
| Measure | Description | Time Frame |
|---|---|---|
| Ambulatory Blood Pressure Monitoring (ABPM) Findings in POR Deficiency Patients Compared to Healthy Controls | This measure assesses the 24-hour ambulatory blood pressure monitoring (ABPM) results, including systolic, diastolic, and mean arterial pressures, in Cytochrome P450 Oxidoreductase (POR) deficiency patients compared to healthy controls. It aims to identify hypertension prevalence and nocturnal blood pressure patterns in POR deficiency patients. |
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Inclusion Criteria:
Exclusion Criteria:
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The study population consists of two groups: (1) 7 pediatric patients with genetically confirmed Cytochrome P450 Oxidoreductase (POR) deficiency under follow-up at Istanbul University and (2) 30 healthy children and adolescents matched by age and gender, without any known medical conditions. The population aims to evaluate the impact of POR deficiency on hypertension and endothelial damage.
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| Name | Affiliation | Role |
|---|---|---|
| Ozge Bayrak Demirel, MD | Istanbul University | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Istanbul University | Istanbul | 34093 | Turkey (Türkiye) |
The data will not be shared due to confidentiality concerns and the small sample size of the study, which may risk participant anonymity.
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Venous blood samples will be retained to analyze endothelial damage biomarkers, including Prostaglandin E2, Thromboxane B2, and Nitric Oxide. Serum samples will be centrifuged and stored at -80°C for future biochemical analysis.
| Up to 6 months from the start of participant enrollment |
| ID | Term |
|---|---|
| D054882 | Antley-Bixler Syndrome Phenotype |
| D006973 | Hypertension |
| D000312 | Adrenal Hyperplasia, Congenital |
| ID | Term |
|---|---|
| D013580 | Synostosis |
| D004413 | Dysostoses |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D009139 | Musculoskeletal Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D043202 | Steroid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D047808 | Adrenogenital Syndrome |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000307 | Adrenal Gland Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |
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