Evaluation of Circadian Hormonal Balance: LC-MS/MS Measurement of Salivary and Serum Steroids in Patients With Congenital Adrenal Hyperplasia

NCT07718230 | Not Yet Recruiting

• 2 other identifiers: APHP240719IDRCB 2024-A01224-43
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Congenital Adrenal Hyperplasia; Adrenal Insufficiency; Hyperandrogenism; 21-hydroxylase Deficiency

Keywords

Congenital adrenal hyperplasia; 21-hydroxylase deficiency; pediatric endocrinology; salivary steroids; LC-MS/MS; circadian rhythm; nycthemeral profile; hydrocortisone; fludrocortisone; steroid profiling

Outcome Measures

Primary Outcomes (1)

• 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.

  At the routine follow-up visit within 12 months after inclusion

Secondary Outcomes (2)

• Nycthemeral profile of salivary steroid levels

  Over a 24-hour nycthemeral cycle (8:00, 12:00, 16:00, 20:00, and 8:00 the next morning) within 12 months after inclusion

• Correlation between quantitative salivary circadian steroid profiles (ng/mL) obtained by mass spectrometry and hydrocortisone/fludrocortisone dosing (mg/m2 and microg/day respectively)

  Over a 24-hour circadian cycle during the 12-month observation period

Study Arms (1)

CAH pediatric cohort treated with glucocorticoids

Children and adolescents with congenital adrenal hyperplasia followed in the participating pediatric endocrinology centers, with 1-2 routine follow-up visits per year, during which paired serum and salivary steroid measurements are obtained.

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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

You may not qualify if:

• 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
• Lack of affiliation with a social security/health insurance system

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Service des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau

Paris, 75012, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Saliva (approximately 2 mL) and serum (approximately 6 mL) samples collected for steroid profiling by LC-MS/MS. Samples are stored at -20°C in the Department of Clinical Metabolomics, Hôpital Saint-Antoine, for up to 15 months. No DNA extraction or genetic analyses are planned.

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Hyperandrogenism; Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders; 46, XX Disorders of Sex Development

Study Officials

• Muriel HOUANG, MD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Muriel HOUANG, MD

CONTACT

+33 1 44 73 66 31; muriel.houang@aphp.fr

Antonin LAMAZIERE, PU-PH

CONTACT

+33 1 40 01 14 90; antonin.lamaziere@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 18, 2026
• First Posted: July 21, 2026
• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): September 1, 2028
• Last Updated: July 21, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)