What are the symptoms of 21-hydroxylase deficiency?
Later in life both males and females with both classic forms of 21-hydroxylase deficiency may have:
- Puberty starting in childhood (precocious puberty)
- Excessive hair growth.
- Acne.
- Shorter than average adult height.
- Reduced fertility.
- Irregular periods (females)
- Testicular enlargement and testicular tumors (males)
What do people with CAH look like?
Teenage and adult females who have nonclassic CAH may have normal appearing genitals at birth, but later in life, they may experience: Irregular or absent menstrual periods. Masculine characteristics such as facial hair, excessive body hair and a deepening voice. Severe acne.
What causes salt wasting in CAH?
Salt-wasting CAH. Salt-wasting CAH is the severe form of classic 21-hydroxylase deficiency. In this type of CAH, the adrenal glands make too little aldosterone, causing the body to be unable to retain enough sodium (salt). Too much sodium is lost in urine (thus the name, “salt-wasting”).
What are the symptoms of salt wasting?
Symptoms include lethargy, agitation, headache, altered consciousness, seizures, and coma. The severity of symptoms typically reflects the magnitude and rapidity of the decrease in serum sodium concentration.
Can adrenal glands cause body odor?
Adrenal androgens Contribute to pubic and armpit hair growth and body odor in men and women.
What is Salt wasting nephropathy?
On the other hand, salt-losing nephropathy (SLN) is defined as a renal loss of sodium that leads to hyponatremia and ECV loss [2]. Differentiation of SLN from SIADH is important because treatment of SLN is opposite from that of SIADH.
What happens hyponatremia?
In hyponatremia, one or more factors — ranging from an underlying medical condition to drinking too much water — cause the sodium in your body to become diluted. When this happens, your body’s water levels rise, and your cells begin to swell. This swelling can cause many health problems, from mild to life-threatening.
What is the difference between 21-hydroxylase deficiency and salt wasting?
The classical salt wasting form of 21-hydroxylase-deficient is a severe form of 21-hydroxylase deficiency. People with this condition have no 21-hydroxylase function.Within the first week of life newborns may have life threatening salt-wasting crises and low blood pressure.
What are the treatment options for 21-hydroxylase deficiency?
Treatment for 21-hydroxylase deficiency depends on the severity of symptoms and the form of the condition. The goals of treatment are to manage to symptoms. Infants identified at birth with 21-hydroxylase deficiency are treated with hormones and steroids to prevent a salt-wasting crisis.
How does 21-hydroxylase deficiency affect blood pressure?
The retention of salt affects fluid levels in the body and blood pressure. 21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens.
What are the signs and symptoms of salt-wasting CAH?
Shock in infants with salt-wasting is called adrenal crisis. Signs include confusion, irritability, rapid heart rate, and/or coma. Even when carefully treated, children with salt-wasting CAH are still at risk for adrenal crises when they become ill or are under physical stress.