Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency – Adrenal Gland Disorders

The adrenal glands are small glands located on top of each kidney. They produce hormones that you can’t live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions.

With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing’s syndrome, there’s too much cortisol, while with Addison’s disease, there is too little. Some people are born unable to make enough cortisol.

Causes of adrenal gland disorders include

• Genetic mutations
• Tumors including pheochromocytomas
• Infections
• A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland
• Certain medicines

Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders.

NIH: National Institute of Child Health and Human Development

• 17-hydroxycorticosteroids (Medical Encyclopedia)
• 17-OH progesterone (Medical Encyclopedia)
• 24-hour urinary aldosterone excretion rate (Medical Encyclopedia)
• ACTH (cosyntropin) stimulation test (Medical Encyclopedia)
• ACTH blood test (Medical Encyclopedia)
• Acute adrenal crisis (Medical Encyclopedia)
• Adrenal glands (Medical Encyclopedia)
• Adrenalectomy (Medical Encyclopedia)
• Aldosterone blood test (Medical Encyclopedia)
• Congenital adrenal hyperplasia (Medical Encyclopedia)
• Hyperaldosteronism – primary and secondary (Medical Encyclopedia)

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types.Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (ambiguous genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life.Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency.