Levels of 17-Hydroxyprogesterone, Renin, Testosterone, And Electrolytes in Congenital Adrenal Hyperplasia Patients

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal-recessive condition primarily caused by 21- hydroxylase deficiency. It is the most common cause of ambiguous genitalia in infants and children. It can be a fatal condition if left untreated. Objectives: The study's objective was to estimate the levels of 17-hydroxyprogesterone, plasma direct renin, testosterone, and electrolytes in patients with CAH. Place and Duration of Study: This cross-sectional study was conducted at the University of Child Health Sciences, Lahore between March 2021 till April 2022. Material & Methods: This study included ninety CAH patients up to 14 years of age who underwent clinical and physical testing without gender restriction. Patients without confirmed CAH but with elevated levels of 17- hydroxyprogesterone were excluded. An ultrasound examination was done to confirm the presence of ambiguous genitalia. ELISA was used to estimate the values of 17-hydroxyprogesterone. Plasma direct renin and testosterone were measured by chemiluminescence immunoassay. The values of sodium, potassium and chloride were measured using an electrolyte analyzer. Data was analyzed using IBM SPSS version 26.0. Results: Of the total 90 patients, 46 (51.11%) were boys and 44 (48.88%) were girls. 55 (61.10%) CAH patients had high levels of 17-OHP. High testosterone and plasma direct renin levels were observed in 31 (34.40%), and 43 (47.80%) CAH patients respectively. Mostly, CAH patients had normal levels of sodium 70 (77.80%), potassium 54 (60.0%), and chloride 57 (63.30%). The difference in 17-OHP (ng/mL) levels was found to be statistically significant (p=0.002) in both genders. Conclusion: There is a significant association between elevated 17-OHP and CAH in the pediatric population, indicating that the 17-OHP can be used as a diagnostic tool for CAH patients.