11-Deoxycortisol

rious enzymes, including 11-beta-hydroxylase.

While 11-deoxycortisol has little biological activity, it is an important marker for important conditions involving disruptions in cortisol production.  [4.] 

11-Deoxycortisol and 11-Beta-Hydroxylase Deficiency

11-Deoxycortisol levels rise due to decreased function of the enzyme 11-beta-hydroxylase, which is responsible for the conversion of 11-deoxycortisol to cortisol.  11-beta-hydroxylase deficiency is typically caused by an alteration in the CYP11B1 gene.  

11-beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia.  [5.] 

Other causes including adrenal, pituitary or hypopituitary insufficiency as well as certain medications can also manifest in increased 11-deoxycortisol levels.  

Clinical Manifestations of 11-Beta-Hydroxylase Deficiency

11-beta-hydroxylase deficiency causes a decreased production of cortisol, an important glucocorticoid hormone.  Because of this impairment in cortisol production, cortisol precursors such as 11-deoxycortisol and other steroid adrenal hormones accumulate.

Elevated levels of 11-deoxycortisol due to 11β-hydroxylase deficiency have significant clinical implications. This condition results in the following physiological changes:  [1., 4.]

• Increased ACTH Levels: due to reduced cortisol feedback.

• Accumulation of 11-deoxycortisol: 11-deoxycortisol has limited biological activity due to impaired conversion to cortisol.

• Elevated deoxycorticosterone levels: 11-deoxycortisone exhibits mineralocorticoid activity leading to hypertension.

• Overproduction of adrenal androgens: increased production of dehydroepiandrosterone (DHEA), androstenedione, and testosterone contribute to virilization symptoms.

• Hypokalemia: due to changes in renal function caused by altered mineralocorticoid activity.  

This hormonal imbalance causes a clinical picture including hypertension and hyperandrogenism, which may manifest as ambiguous genitalia in females at birth and precocious pseudopuberty in both genders. 

As 11β-hydroxylase deficiency disrupts normal steroid synthesis pathways, it highlights the importance of accurate diagnosis and management to prevent severe metabolic and developmental consequences. 

Laboratory Testing for 11-Deoxycortisol

Laboratory Test Information, Sample Collection and Preparation

11-deoxycortisol levels are commonly assessed in serum or plasma.  They typically require blood collection via venipuncture.  Sample collection is best done at or close to 8 AM.  

11-deoxycortisol is also assessed in urine.  

No other special preparation is generally required, although it is essential to consult the ordering healthcare provider to confirm.

Interpretation of 11-Deoxycortisol Results

Reference Range for 11-Deoxycortisol 

It is essential to contact the laboratory company used for their reference ranges.  Reference ranges typically decrease after puberty, and continue to decline with age.  Typical 8AM reference ranges for 11-deoxycortisol in serum are given as:  [2.]

Persons aged 18 years or younger: < 344 ng/dL

Adults older than 18 years: 10-79 ng/dL

Serum reference range of 11-deoxycortisol after a single-dose overnight metapyrone test is >1700 ng/dL

Urine levels of 11-deoxycortisol are provided by one lab company as 0.35-1.8 ng/mg creatinine.  [3.]

Clinical Significance of Elevated Levels of 11-Deoxycortisol

Causes of elevated levels of 11-deoxycortisol include:  [4.]

11-beta-hydroxylase Deficiency in Congenital Adrenal Hyperplasia (CAH): indicates a potential genetic enzyme defect affecting steroid synthesis.

Pharmacological Induction: use of metyrapone, a medication that blocks 11-beta-hydroxylase, can increase 11-deoxycortisol levels.  Metyrapone testing is often used to assess HPA (hypothalamic-pituitary-adrenal) axis function.  

Primary Adrenal Insufficiency: Addison's disease, adrenal adenoma, or congenital adrenal hyperplasia can all cause elevated 11-deoxycortisol levels.

Secondary Adrenal Insufficiency: caused by conditions affecting the pituitary gland like microadenoma, pituitary apoplexy, or head trauma.

Tertiary Adrenal Insufficiency: due to hypothalamic disease that results in decreased corticotropin-releasing factor (CRF).

Clinical Significance of Decreased Levels of 11-Deoxycortisol

Low levels of 11-deoxycortisol are considered to fall within the reference range, and are not typically considered clinically significant.  Any questions regarding 11-deoxycortisol test results should be addressed with a medical professional.  

Testing Biomarkers Related to 11-Deoxycortisol

Cortisol

Cortisol, a primary adrenal stress hormone, plays a central role in regulating metabolism, immune function, and stress response. 

Like 11-Deoxycortisol, cortisol is produced in the adrenal cortex and is measured to assess the hypothalamic-pituitary-adrenal (HPA) axis. 

Measurement of cortisol levels provides insights into adrenal function and the body's response to stress. Abnormal cortisol levels may indicate adrenal insufficiency, Cushing's syndrome, or other adrenal disorders, complementing the assessment of 11-Deoxycortisol.

Aldosterone

Aldosterone is a mineralocorticoid hormone produced in the adrenal cortex that regulates electrolyte balance and blood pressure. It plays a crucial role in sodium and potassium homeostasis by acting on the kidneys to promote sodium retention and potassium excretion. 

Measurement of aldosterone levels aids in the diagnosis and management of conditions such as primary aldosteronism, adrenal adenomas, and adrenal hyperplasia. 

Assessing aldosterone levels alongside 11-Deoxycortisol provides a comprehensive evaluation of adrenal steroidogenesis and mineralocorticoid function.

Adrenocorticotropic Hormone (ACTH)

Adrenocorticotropic hormone (ACTH) is a peptide hormone produced by the anterior pituitary gland that stimulates cortisol production in the adrenal cortex. ACTH secretion is regulated by the hypothalamus and is influenced by various factors including stress, circadian rhythms, and negative feedback from cortisol. 

Measurement of ACTH levels aids in the differential diagnosis of adrenal disorders, such as adrenal insufficiency and Cushing's syndrome. Assessing ACTH levels alongside 11-Deoxycortisol provides insights into the integrity of the HPA axis and adrenal responsiveness to ACTH stimulation.

Dehydroepiandrosterone (DHEA)

Dehydroepiandrosterone (DHEA) is an androgen precursor produced in the adrenal glands and gonads. It serves as a precursor to testosterone and estrogen and plays a role in regulating mood, energy levels, and immune function. 

Measurement of DHEA levels may be useful in assessing adrenal function and hormonal balance, particularly in conditions such as adrenal insufficiency and adrenal androgen excess disorders. Evaluating DHEA levels alongside 11-Deoxycortisol provides a comprehensive assessment of adrenal steroidogenesis and androgen production.

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