Does congenital adrenal hyperplasia affect males?
Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls. The adrenal glands are located above the kidneys and produce three types of hormones: Cortisol, which regulates energy, blood pressure and blood sugar and helps us recover from a sudden illness.
What happens if you don’t treat congenital adrenal hyperplasia?
Left untreated, these imbalances lead to other problems, like heart arrhythmias (irregular heartbeat), cardiac arrest, and death. Untreated nonclassic CAH can lead to early puberty and short stature in a male, and permanent male type body changes in a female child, or irregular periods and infertility in a young woman.
Can CAH be diagnosed later in life?
While many patients are diagnosed shortly after birth, there is a type of this disease that develops later in life, usually in adolescence or early adulthood—it’s called non-classical or late-onset CAH. These people are missing only some of the enzymes that are necessary for cortisol production.
What causes late onset congenital adrenal hyperplasia?
Nonclassical or late-onset CAH is a milder type that occurs in older children and young adults. This type is caused by a partial enzyme deficiency instead of the enzyme being completely absent. If you have this type of CAH, your adrenal glands can make aldosterone, but not enough cortisol.
Is congenital adrenal hyperplasia curable?
Right now, there is no cure for CAH, but there is treatment. Some people with mild CAH may not need to take medicine all the time. They may only need to take cortisol when they are sick.
How do you fix 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.
Is CAH an autoimmune disease?
According to literature, we could only find one reported case of CAH occurring together with complete adrenal cortex insufficiency suspected to be autoimmune adrenalitis.
How common is late onset CAH?
It has a prevalence between 0.1% and 2% depending on population, and is one of the most common autosomal recessive genetic diseases in humans. The pathophysiology is complex and not all individuals are symptomatic.
Is late onset adrenal hyperplasia intersex?
CAH doesn’t cause intersex in XY individuals because their testes already produce so much testosterone that the added virilizing hormones don’t really make a difference. However, untreated CAH can cause boys to have their puberty earlier than other boys.
How common is late-onset CAH?
Is NCAH life threatening?
NCAH is usually not life-threatening and is relatively mild compared to classic congenital adrenal hyperplasia. Some women may have no signs or symptoms of the condition while others may require treatment for hirsutism, infertility or other health problems.
How do you fix CAH?
People who have the classic form of CAH can successfully manage the condition by taking hormone replacement medications throughout their lives. People who have nonclassic CAH may not require treatment or may need only small doses of corticosteroids. Medications for CAH are taken on a daily basis.
What is late onset congenital adrenal hyperplasia?
Late onset CAH from deficiencies or mutations in other genes such as 11 β -hydroxylase ( CYP11B1) and 3 β -hydroxysteroid dehydrogenase ( HSD3B2) are extremely rare. Late onset CAH should not be confused with the more serious and early onset condition of newborns called congenital adrenal hyperplasia (CAH).
What is the prevalence of congenital adrenal hyperplasia?
Classical congenital adrenal hyperplasia occurs in approximately 1/15.000 births, while 21OH-NCAH is much more frequent and occurs in approximately 1% of the general population, with an incidence of 1:500 to 1:1,000 in various Caucasian populations.
What are the signs and symptoms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male hormone) excess such as acne, premature development of pubic hair, accelerated growth, advanced bone age, and reduced adult height.
Is late-onset congenital adrenal hyperplasia an intersex condition?
Reviewing the list of conditions which Fausto-Sterling considers to be intersex, we find that this one condition–late-onset congenital adrenal hyperplasia (LOCAH)–accounts for 88% of all those patients whom Fausto-Sterling classifies as intersex (1.5/1.7 = 88%). From a clinician’s perspective, however, LOCAH is not an intersex condition.