How does congenital adrenal hyperplasia present?
An excess of the male sex hormone androgen can result in short height and early puberty for both males and females. Pubic hair and other signs of puberty may appear at a very early age. Severe acne also may occur. Excess androgen hormones in females may result in facial hair, excessive body hair and a deepening voice.
Can you have congenital adrenal hyperplasia and not know it?
Nonclassic congenital adrenal hyperplasia: This form is milder, more common, and often diagnosed in later childhood or early adulthood. Usually, women with nonclassic CAH present only with signs of too much androgens (i.e., excess body hair, early puberty, irregular periods). Men often have no symptoms.
What is unique about congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH effects the adrenal glands located at the top of each kidney.
Do carriers of CAH have symptoms?
People with a mutation in only one of the CAH-related genes do not have symptoms of CAH. But they're called CAH carriers because they can pass the CAH-causing gene to their children. The genetic pattern through which CAH passes from parents to children is called autosomal recessive.
What is the most common form of congenital adrenal hyperplasia?
United States. The most common form of congenital adrenal hyperplasia is due to mutations or deletions of CYP21A, resulting in 21-hydroxylase deficiency. This deficiency accounts for more than 90% of adrenal hyperplasia cases.
What are the signs of adrenal gland problems in females?
SymptomsExtreme fatigue.Weight loss and decreased appetite.Darkening of your skin (hyperpigmentation)Low blood pressure, even fainting.Salt craving.Low blood sugar (hypoglycemia)Nausea, diarrhea or vomiting (gastrointestinal symptoms)Abdominal pain.More items...•
Does CAH shorten life expectancy?
Deaths in patients with classic CAH in the context of an acute adrenal crisis (Addisonian crisis) are described in the literature. Mortality in CAH children is generally considered higher and assumed to be between 2 and 13% [17–19, 21].
Can a woman with CAH get pregnant?
Women with congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion or impaired sex steroid production. CAH patients have lower pregnancy rate compared to normal women. Only a few cases with successful pregnancy have been reported in the literature.
What is the prognosis for adrenal hyperplasia?
Outlook / Prognosis Most people with CAH have good health, but you may be shorter than other adults. In some cases, congenital adrenal hyperplasia can affect your fertility. If you were born with ambiguous genitalia, you may need psychological care.
Is CAH the same as Addison's disease?
Background. Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison's disease or congenital adrenal hyperplasia (CAH).
What happens if congenital adrenal hyperplasia is not treated?
If not found and treated, classic CAH can cause shock, coma, and death. Nonclassic CAH is a more common, less severe condition in which there is still some adrenal steroid 21-hydroxylase enzyme activity remaining. It is usually diagnosed in later childhood or adulthood.
How do you test for adrenal hyperplasia?
Your health care provider will do a physical exam, check your child's blood pressure and heart rate, and review symptoms to identify possible CAH . The next step is to confirm the diagnosis with blood and urine tests. Blood and urine tests.
Can congenital adrenal hyperplasia be diagnosed in adulthood?
It is usually diagnosed in later childhood or adulthood. Nonclassic CAH does not cause “salt-wasting.” Symptoms of nonclassic CAH include early puberty in children and irregular menstrual periods, acne, and/or unwanted hair growth in women.
What causes late onset congenital adrenal hyperplasia?
Nonclassical or Late-Onset CAH 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. Testosterone levels are also lower in late-onset CAH.
How do you test for congenital adrenal hyperplasia in adults?
Blood and urine tests. These tests look for hormones produced by the adrenal glands at levels outside the standard ranges. The tests also check the levels of electrolytes. These are minerals such as sodium that balance the amount of water in the body.
When is congenital adrenal hyperplasia diagnosed?
Classic congenital adrenal hyperplasia (CAH) Diagnosis of classic CAH typically happens at birth. There are two subtypes of classic CAH: Salt-wasting CAH: Salt-wasting is the most severe form of CAH. If you have salt-wasting CAH, your adrenal glands produce too little aldosterone.
What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls.
How are infants screened for adrenal hyperplasia?
All infants born in the United States are screened for congenital adrenal hyperplasia through a blood test.
What causes adrenal hyperplasia in children?
In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly. In order for a child to be born with CAH, both parents must be carriers of the mutated gene and pass it on to their baby.
What is the adrenal and puberty center at Hop?
In the Adrenal and Puberty Center at CHOP, our team will work with your family to develop an individualized treatment plan to manage your child’s disease.
What is the missing enzyme in CAH?
In close to 95 percent of cases, the missing enzyme is called 21-hydroxylase. CAH caused by this missing enzyme is called 21-hydroxylase deficiency.
How many children are born with CAH?
CAH caused by 21-hydroxylasse deficiency can affect both boys and girls equally. One in 10,000 to 18,000 children are born with classical CAH, while the nonclassical form is much more common.
What are the symptoms of a classical CAH?
Children with classical CAH may develop an “adrenal crisis” which produces symptoms including: Vomiting. Severe dehydration. Low blood pressure. Life-threatening shock. In classical CAH, the body also overproduces androgens, which can cause: Newborn girls may have atypical genitalia.
What You Need to Know
Congenital adrenal hyperplasia (CAH) describes a group of hereditary (inherited) genetic disorders affecting your adrenal glands.
What causes congenital adrenal hyperplasia?
The most common cause of CAH is a genetic mutation (change) in the 21-hydroxylase enzyme. The adrenal gland needs 21-hydroxylase to make appropriate amounts of hormones. If someone doesn’t have enough 21-hydroxylase, called 21-hydroxylase deficiency, this can result in decreased cortisol production.
Congenital Adrenal Hyperplasia Symptoms
Signs and symptoms of CAH vary, depending on which gene is defective and the level of enzyme deficiency.
Congenital Adrenal Hypoplasia Treatment
The goal of CAH treatment is to reduce excessive androgens and replace deficient hormones. People with classic CAH need to take hormone replacement medications throughout their lives, while people with nonclassic CAH may or may not require treatment based on their symptoms and gender. Medications may include:
What Causes Nonclassical Congenital Adrenal Hyperplasia?
The most common cause of NCAH is 21-hydroxylase deficiency. This enzyme deficiency happens because of a genetic change you inherit. Without enough 21-hydroxylase, the compounds that make cortisol and the hormone aldosterone, build up in your adrenal glands. Your adrenals convert these to androgens, which leads to problems.
What Are Nonclassical Congenital Adrenal Hyperplasia Symptoms?
Lots of people don’t have any NCAH symptoms, or they are mild. Symptoms often look like other conditions, so it can be hard to diagnose. It is sometimes confused with polycystic ovary syndrome, or PCOS, where the ovaries make too many androgen hormones.
What Is the Treatment for Nonclassical Congenital Adrenal Hyperplasia?
Nonclassical congenital adrenal hyperplasia treatment usually isn’t necessary for most people, especially if you don’t have any symptoms. Your doctor might give you medication if you have symptoms like acne, period problems, extra facial hair, or hair loss. These treatments can include:
