In congenital adrenal hyperplasia (CAH), lifelong hormone replacement therapy is required to treat adrenal insufficiency and to reduce elevated androgen levels. This is essential to ensure "normal" growth and puberty. Replacement therapy includes hydrocortisone and 9α-fludrocortisone acetate (as a mineralocorticoid substitute). Defining appropriate criteria for evaluating therapeutic goals is a key component of patient follow-up.
Currently, monitoring is generally limited to the quantification of serum 17-hydroxyprogesterone (17OHP), testosterone (T) and delta-4 androstenedione (D4), measured in the morning after an overnight fast and before the morning hydrocortisone dose. However, such single-point serum measurements do not take into account the circadian rhythm of these steroids.
The objective of the study is to evaluate correlations between steroid levels (21-deoxycortisol, 17-hydroxyprogesterone, testosterone, delta-4 androstenedione, and cortisol) measured by LC-MS/MS in multiple at-home self-collected saliva samples and those measured in serum during routine monitoring.
Patients aged 6 years or older
Confirmed diagnosis of congenital adrenal hyperplasia treated with glucocorticoids
Signed informed consent provided by legal guardians
Affiliation to a national health insurance system
Patients younger than 6 years of age
Lesions of the oral mucosa that could interfere with saliva sampling
Inability to provide the patient or legal representatives with appropriate study information (e.g., poor understanding of French)
Underage parents
Pediatric patients with congenital adrenal hyperplasia followed in the pediatric endocrinology departments of Hôpital Armand Trousseau (Centre de Référence Maladies Endocriniennes Rares de la Croissance) and Hôpital Bicêtre (Service d'Endocrinologie et diabète de l'Enfant, Centre de Référence DevGen), seen during their routine follow-up visits.
Cohort
Prospective
Not listed
Correlation between salivary and serum steroid levels at 8:00 a.m.
Intraclass correlation coefficient between 21-deoxycortisol, 17-hydroxyprogesterone, testosterone, delta-4 androstenedione and cortisol measured by LC-MS/MS in paired salivary and serum samples collected at 8:00 a.m. before the morning hydrocortisone dose.
Nycthemeral profile of salivary steroid levels
Description and quantitative characterization of circadian variation in salivary 21-deoxycortisol, 17-hydroxyprogesterone, testosterone, delta-4 androstenedione and cortisol measured by LC-MS/MS in CAH patients treated with glucocorticoids.
Correlation between quantitative salivary circadian steroid profiles (ng/mL) obtained by mass spectrometry and hydrocortisone/fludrocortisone dosing (mg/m2 and microg/day respectively)
Evaluation of the relationship between salivary steroid levels (21-deoxycortisol, 17-hydroxyprogesterone, testosterone, delta-4 androstenedione and cortisol) over the nycthemeral cycle and the type, dose and schedule of hydrocortisone and fludrocortisone treatment.
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