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Salt-losing congenital adrenal hyperplasia — Clinical Guidelines

Overview

Salt-losing congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis due to enzyme deficiencies, primarily affecting 21-hydroxylase, leading to adrenal insufficiency and salt wasting. 1

Diagnosis

Clinical Presentation: Symptoms include dehydration, hyponatremia, hyperkalemia, and ambiguous genitalia in severe cases.

Biochemical Tests: Elevated 17-hydroxyprogesterone (17-OHP) levels in blood or saliva are indicative.

Genetic Testing: Confirmatory testing for specific gene mutations (e.g., CYP21A2).

Sweat Test: Elevated sodium concentration in sweat can support the diagnosis.

Imaging: Not typically required but may be used to assess ambiguous genitalia.

Differential Diagnosis: Exclude other causes of adrenal insufficiency and salt wasting.

Grading: Severity grading based on 17-OHP levels and clinical presentation (e.g., salt-wasting vs. simple virilizing forms). 1

Management

First-Line Treatment: Glucocorticoids (e.g., hydrocortisone) to replace cortisol and suppress ACTH, reducing adrenal androgen production.

Mineralocorticoids: Fludrocortisone for patients with salt-wasting forms to manage electrolyte imbalances.

Fluid and Electrolyte Replacement: Intravenous fluids and potassium management in acute salt-wasting episodes.

Dietary Sodium: Increased sodium intake for patients requiring mineralocorticoid support.

Monitoring: Regular assessment of electrolytes, growth parameters, and adrenal function tests.

Long-Term Follow-Up: Regular clinical evaluations and genetic counseling for families. 1

Special Populations

Pregnancy: Close monitoring of maternal and fetal well-being, adjusting glucocorticoid doses as needed.

Pediatrics: Early diagnosis and management crucial to prevent growth retardation and ambiguous genitalia.

Elderly: Similar management principles apply, with emphasis on managing comorbidities and polypharmacy interactions.

Comorbidities: Consider interactions with other adrenal or metabolic disorders when adjusting treatment regimens. 1

Key Recommendations

Initiate glucocorticoid replacement therapy promptly in confirmed cases of salt-wasting CAH to prevent adrenal crisis. (Evidence: Strong 1)

Add mineralocorticoids to the treatment regimen for patients with salt-wasting forms to manage electrolyte imbalances effectively. (Evidence: Strong 1)

Regularly monitor electrolyte levels and growth parameters in pediatric patients to adjust treatment as necessary. (Evidence: Moderate 1)

References

1 Her C, Szumlanski C, Aksoy IA, Weinshilboum RM. Human jejunal estrogen sulfotransferase and dehydroepiandrosterone sulfotransferase: immunochemical characterization of individual variation. Drug metabolism and disposition: the biological fate of chemicals 1996. link

Salt-losing congenital adrenal hyperplasia