How do you manage congenital adrenal hyperplasia?
Classic CAH is treated with steroids that replace the low hormones.
- Infants and children usually take a form of cortisol called hydrocortisone.
- Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.
Which enzymes are blocked in Congenital Adrenal Hyperplasia?
Between 90% and 95% of cases of CAH are caused by an autosomal recessive deficiency of the enzyme 21âhydroxylase. This enzyme deficiency leads to the decreased efficiency of cortisol production, resulting in pituitary overstimulation of the adrenal gland.
How is bilateral adrenal hyperplasia treated?
For patients with bilateral hyperplasia, the best treatment is a medication called an aldosterone-antagonist (spironolactone, eplerenone) which blocks the effect of aldosterone. In addition, patients are maintained on a low salt diet.
Do people with CAH have high testosterone?
During childhood, the healthy child switches off their production of sex steroid hormones. However, if the infant has untreated congenital adrenal hyperplasia, they will produce excessive levels of male hormones such as testosterone from their adrenal glands.
How is non classical adrenal hyperplasia treated?
Non-classical adrenal hyperplasia can be treated effectively using drugs called corticosteroids. The treatment slows growth in children and delays puberty so that it can start on time. In adult women, this treatment can be used to regulate the menstrual cycle, prevent hairiness and acne, as well as improving fertility.
Can you detect CAH during pregnancy?
CAH is diagnosed prenatally by chorionic villus sampling (CVS) at approximately 14 weeks of gestation, or later, at approximately 20 weeks, by amniocentesis (Figure 1).
What is the cause of adrenal hyperplasia?
Congenital adrenal hyperplasia occurs when a genetic mutation causes the deficiency of an enzyme called 21-hydroxylase. Insufficient supplies of this particular enzyme affect the adrenal cortex, disrupting the balance of hormone production.
What are the causes of congenital adrenal hyperplasia (CAH)?
CAH is caused by three disturbances: Too little cortisol (pronounced KAWR-tuh-sawl ). The adrenal glands of infants born with CAH cannot make enough of the hormone cortisol. Too little aldosterone (pronounced al-DOS-tur-own ). Too much androgens (pronounced AN-druh-juhnz or AN-druh-jenz ).
What is late-onset adrenal hyperplasia?
Late-onset adrenal hyperplasia refers to a congenital endocrine disorder, associated with an enlargement of the adrenal glands, which causes increased aldosterone production and an insufficiency of cortisol . Late-onset adrenal hyperplasia, or non-classical adrenal hyperplasia (NCAH),…
What causes hyperplasia of a gland?
The most common conditions that can cause parathyroid hyperplasia are chronic kidney disease and chronic vitamin D deficiency . In both cases, the parathyroid glands become enlarged because vitamin D and calcium levels are too low.