Investigation of the Etiology of Hypertension and Endothelial Damage in Patients With Cytochrome P450 Oxidoreductase Deficiency

Ozge Bayrak Demirel51 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Cytochrome P450 Oxidoreductase Deficiency Hypertension Endothelial Dysfunction Congenital Adrenal Hyperplasia

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Genetically confirmed diagnosis of Cytochrome P450 Oxidoreductase (POR) deficiency * Diagnosis of POR deficiency before the age of 18. * Written informed consent provided by the participant and/or their legal guardian. Exclusion Criteria: * Presence of an acute illness or other pathology identified during the study. Nail-biting habit or manicure within the last 14 days (due to potential impact on capillaroscopy results) * Use of medications other than physiologic hydrocortisone * Kidney, endocrine, or vascular pathologies that may cause hypertension * History of smoking or hand trauma

Outcomes

Primary Outcomes

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.

Time frame: Up to 6 months from the start of participant enrollment

Secondary Outcomes

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.