Medication
It is important for babies with classic CAH to be diagnosed as quickly as possible. This allows treatment to begin soon after birth which helps reduce the effects of CAH. The main treatment for classic CAH is a drug called ‘hydrocortisone’ (also called ‘cortisone’), taken in pill form.
Procedures
Newborns in the United States (and many other countries) have a screening test to check for CAH so they can get treatment quickly. Along with low cortisol and high androgen levels, babies with classical CAH often have low aldosterone. This hormone helps maintain healthy levels of fluid, sodium and potassium. Nonclassical CAH (NCAH) is milder.
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Treatment. Treatment will depend on the type of CAH and the severity of symptoms and is aimed at reducing excess androgen production and replacing deficient hormones. People with nonclassical CAH may not require treatment or may need only small doses of corticosteroids.
How do you treat classic CAH in babies?
Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery. Parents may want to consider surgery for their child during infancy, or they may want to delay until later in childhood.
What is CAH in newborns?
What is the best treatment for CAH?
When should I consider surgery for my child with CAH?
How do babies get CAH?
Cause. Congenital adrenal hyperplasia is a genetic disorder. 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.
Can you grow out of CAH?
You can't outgrow CAH. People with classical CAH will require treatment for the rest of their lives. Nonclassical CAH patients could be symptomatic or non-symptomatic. Symptomatic children should start medication therapy at the first signs of precocoious puberty or bone age acceleration.
How long do CAH patients live?
The mean age of death in the cohort to the end of the study period was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls (P < .
Is CAH detected at birth?
Classic CAH is usually detected at birth through routine newborn screening or when babies have atypical genitalia. CAH may also be identified when male or female babies show signs of severe illness due to low levels of cortisol, aldosterone or both.
Can CAH be treated?
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 daily.
How do you fix CAH?
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.More items...•
Is CAH a disability?
When Kayla's parents spoke to a lawyer, they learned that her CAH probably qualified as a disability under the Americans with Disabilities Act because it substantially limits her endocrine function.
How is CAH inherited?
All forms of CAH are inherited in an as autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent.
Is CAH an intersex?
Congenital Adrenal Hyperplasia (CAH) is the most prevalent cause of intersex among people with XX chromosomes.
What Happens If CAH is not treated?
If a child in shock is not treated, there is a risk of death. Even when carefully treated, children with salt-wasting CAH are still at risk for adrenal crises when they become ill or are under stress. The body needs more than the usual amount of adrenal hormones during illness, injury, or stress.
What happens if congenital adrenal hyperplasia is left untreated?
Children living with classic CAH lose too much water and salt in their urine. They are at risk for serious complications, including imbalances of electrolytes like potassium. Left untreated, these imbalances lead to other problems, like heart arrhythmias (irregular heartbeat), cardiac arrest, and death.
What are the medications for CAH?
Medications may include: Corticosteroids to replace cortisol.
What test is used to diagnose CAH in fetuses?
Tests used to diagnose CAH in fetuses include: Amniocentesis. This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb and then examining the cells. Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination. Maternal blood test.
What tests are done to confirm CAH?
If the doctor suspects CAH based on a physical exam and symptoms, the next step is to confirm the diagnosis with blood and urine tests. Blood and urine tests. These tests look for abnormal levels of hormones produced by the adrenal glands. Gene testing.
Why is it important to have a blood test for CAH?
Blood tests to check hormone levels. It's critical to have regular blood tests to ensure hormone levels are balanced. A child who hasn't yet reached puberty needs enough cortisone to suppress androgens so that he or she can grow to a normal height. For females who have CAH, it's important to suppress androgens to minimize unwanted masculine characteristics. On the other hand, too much cortisone can cause Cushing syndrome.
What is the best treatment for ambiguous genitalia?
Reconstructive surgery. In some female infants who have severe ambiguous genitalia as a result of classic CAH, doctors may recommend reconstructive surgery to improve genital function and make them look more feminine. Surgery may involve reducing the size of the clitoris and reconstructing the vaginal opening.
What does a doctor check for in a child?
Physical exams. The doctor will check your child's growth and development, including monitoring changes in height, weight, blood pressure and bone growth.
What doctor treats CAH?
Your doctor will likely refer your child to a doctor who specializes in childhood hormonal issues (pediatric endocrinologist) for treatment of CAH. The health care team may also include other specialists, such as urologists, psychologists and geneticists.
How to screen for CAH in newborn?
Newborn screening for CAH is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
What is the basic form of CAH?
Classic CAH is further broken down into two forms, known as the salt-wasting form and the simple- virilizing form . The type of CAH depends on how well 21-hydroxylase can make cortisol and aldosterone and prevent androgens from building up.
What are the two types of CAH?
The two main types of CAH due to 21-OHD are: Classic CAH. Nonclassic CAH. Classic CAH is further broken down into two forms, known as the salt-wasting form and the simple- virilizing form.
How long does it take for CAH to appear?
Signs of CAH may be apparent at birth, appear very shortly after birth (a few days to weeks of life), or appear later in childhood.
Why is the adrenal gland called congenital hyperplasia?
The adrenal glands also grow very large. The name congenital adrenal hyperplasia is given because the condition is present from birth (congenital), it affects the adrenal glands, and it makes the glands large (hyperplasia).
What happens if a baby's blood test is 17-OHP?
If your baby’s blood spot screening result for 17-OHP is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans. An out-of-range screening result does not mean that your baby definitely has the condition.
Can CAH be seen in babies?
Screening samples were collected too early (before the baby is 24 hours old) Babies who were born early (premature), had a low birth weight, or were ill. False-negative results for CAH can be seen in babies whose mothers were given steroids like prednisone or dexamethasone.
How to treat CAH?
The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9α-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.
When can you test for CAH in utero?
Prenatal testing for CAH in utero has historically utilized invasive techniques like amniocentesis and chorionic villus sampling which cannot be done prior to 14 weeks of gestation. Prenatal dexamethasone treatment must begin prior to genital formation occurring at approximately 9 weeks, in order to avoid genital ambiguity in the affected female fetus. Massive parallel sequencing using hybridization probes on cell-free fetal DNA in maternal plasma indicated that the fetal CAH status was correctly deduced as early as 5 weeks 6 days of gestation. This is a noninvasive technique that accurately diagnoses CAH before the ninth week of gestation.
What is the best treatment for adrenal crisis?
Adrenal crisis can present as hypotension or shock and serum electrolyte abnormalities (hypoglycemia, hyponatremia, hyperkalemia, acidosis). During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures.
What is CAH in medical terms?
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps.
What is the ACTH?
ACTH stimulates cholesterol cleavage, the rate limiting step of adrenal steroidogenesis. The clinical symptoms of the five different forms of CAH result from the particular hormones that are deficient and those that are produced in excess as outlined in Table 1.
What is the cause of CAH?
The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps. CAH results from deficiency in any one of these enzymes. Impaired cortisol synthesis leads to chronic elevations of ACTH via the negative feedback system, causing overstimulation of the adrenal cortex and resulting in hyperplasia ...
Why is it difficult to get pregnant with CAH?
Difficulty with fertility in females with CAH may be due to anovulation, secondary polycystic ovarian syndrome, irregular menses, non-suppressible serum progesterone levels, or an inadequate introitus. Fertility is reduced in SW-CAH with rare reports of pregnancy. Non-classical CAH is an important and frequently unrecognized form of infertility. Males with CAH, particularly if poorly treated, may have reduced sperm counts and low testosterone as a result of high androstenedione concentrations which suppress gonadotropins and testicular adrenal rest tumors. Testicular adrenal rest tumors (TART) are thought to arise from aberrant adrenal cells in the testes; TARTs are always benign and mostly bilateral. Microscopic examination shows that adrenal rest cells are present in the testicles of all male patients with CAH and often detected radiographically in those with longstanding poorly controlled disease. Regular testicular examination and periodic testicular ultrasonography are recommended for early detection of adrenal rest tumors of the testes. However, MRI studies have been increasingly used to diagnose TARTs.
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 is the most severe form of CAH?
There are two forms of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Classical CAH: This is the most severe form of the disease and is less common. In people with classical CAH, the body fails to produce any cortisol, which is needed to regulate blood ...
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.
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 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.
Can CAH cause aldosterone?
People with CAH cannot properly make cortisol and in some cases, are unable to produce aldosterone. They also produce too much of some androgens, such as testosterone and 17-hydroxyprogesterone. These hormone imbalances can lead to serious illness, atypical genitalia, early puberty, growth concerns and other problems.
Why do babies with CAH have hyperplasia?
As they start working harder in attempts to make more cortisol they increase in size, resulting in hyperplasia. Babies with CAH are born with a number of physical changes. Their adrenal glands are often larger than normal, even at birth.
What is CAH in medical terms?
This fact sheet contains general information about congenital adrenal hyperplasia (CAH). Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be advised for some children but not others. There are a number of different types of CAH.
How to confirm nonclassic CAH?
Nonclassic CAH is confirmed through testing a blood sample for the levels of 17-OHP and other adrenal hormones.
Can a child with CAH have a salt wasting crisis?
Children with salt-wasting CAH who remain on treatment usually do not have further salt-wasting adrenal crises or other associated health problems.
What are the symptoms of CAH in newborns?
Parents may notice symptoms of classic, or classical, CAH in newborns, such as: Doctors examine infants for signs of classic CAH, including problems with heart rhythm, blood pressure, levels of certain substances in the blood, and your child’s genitalia, or external sex organs.
How to prevent CAH?
The only way to prevent CAH is for parents who know they have the altered gene to avoid having children. Couples considering having children can ask about genetic testing and counseling.
What is CAH in medical terms?
Congenital Adrenal Hyperplasia (CAH) Congenital adrenal hyperplasia is a type of disorder that children can inherit. The disorder affects a child’s adrenal glands, which are located above each kidney. The glands make important hormones, including hormones that affect how well your child’s body maintains normal fluid levels ...
How to treat electrolyte imbalance in children?
Doctors usually treat infants and children who have severe dehydration or electrolyte imbalances with intravenous (IV) fluids and nutrients to restore balance in the body’s metabolism. Your child might receive therapy with certain hormones, especially a hormone called cortisol, that the adrenal glands have stopped producing as they should. They may need medical attention or hormones during illness or times of stress. You should make sure your child with classic CAH has a medical alert bracelet to let emergency workers know about the condition. Doctors also may train parents and other family members or caregivers on how to give hydrocortisone injections in emergencies.
What is classic CAH?
Classic CAH - Children who are born with severe forms of the rare disorder called classic CAH may need immediate treatment to prevent serious illness from salt wasting, a complication of the disease’s effects on the child’s adrenal glands.
How do you know if your child has CAH?
If your child has the classic type of CAH, doctors usually recognize the signs when your child is born or is a young infant. Failure of your child’s adrenal glands to make enough of a hormone called aldosterone leads to water and salt loss in your child’s urine and severe dehydration. Parents may notice symptoms of classic, or classical, ...
How to diagnose CAH?
Doctors first look for signs of CAH in a physical examination. They may use blood tests, genetic tests and imaging examinations to diagnose nonclassic CAH. Sometimes X-rays of a child’s hand and wrist can help doctors compare the age of a child’s bone with the typical bone age of children the same age.
How long does it take for a newborn to develop CAH?
Without treatment, newborns with CAH can develop serious symptoms within days or weeks. These can include weight loss, vomiting, dehydration, diarrhea, shock, heart rhythm problems and others, including coma or death.
How does CAH affect children?
CAH and its treatment can affect your child’s weight, salt levels and bone health. A nutritionist is on the team to help your family understand your child’s nutrition needs and make food choices that support your child’s long-term health. + Transition to adult care.
What is CAH in medical terms?
Congenital adrenal hyperplasia ( CAH) is a group of conditions that affect your child’s adrenal glands. Congenital means that your child had this at birth, and hyperplasia means that the glands are overgrown.
What is the difference between a CAH and a congenital CAH?
Congenital adrenal hyperplasia (CAH) is a group of conditions that affect your child’s adrenal glands. Congenital means that your child had this at birth, and hyperplasia means that the glands are overgrown. Normally, the adrenal glands make and release the hormone cortisol. Cortisol plays a key role in how the body uses sugar for energy ...
What is a CAH coordinator?
Our CAH care coordinator helps ensure you get the care and support you need. This nurse works closely with you and your child’s whole CAH team to identify concerns, set goals, provide care, evaluate results and teach your family about CAH.
What is CAH program?
Our CAH Program brings together board-certifiedspecialists from many areas of healthcare — including endocrinology, urologic reconstructive surgery, neonatology, genetic counseling, gynecologyand psychology— to provide the many types of care your child may need.
What are the two types of CAH?
There are two main types of CAH: classical and nonclassical.
What is CAH in birth?
This type of CAH occurs in about 1 out of every 15,000 births.
What is CAH handbook?
This handbook will provide you and your family information about congenital adrenal hyperplasia (CAH). While this guide will not answer all of your questions, it will provide basic medical facts that will help you to talk to your doctors.
What is a hydrocortisone kit?
Make sure that you always have a hydrocortisone kit at home for emergency use. This kit includes medicine you give with a syringe (a shot). It can be life saving. Your doctor will write a prescription and show you how to use it.
How often should a child go to the endocrinologist?
Your child should see his or her endocrinologist every three to four months for blood tests, X-rays and an exam. As your child gets older, he or she will not have to go to the doctor as often.
Is CAH milder than classical CAH?
Non-classical CAH (NC-CAH) is milder than classical CAH. It is often referred to as “late-onset” CAH, because symptoms do not appear until later in life. Currently, this type of CAH is not detected through newborn screening of infants.
Can CAH surgery change the look of a child's genitals?
In cases of some females with CAH, a question may arise about possible surgery to change the look of the child’s genitals. Patients and parents should make this decision with the help of a psychologist and surgeon. Your doctor should offer you detailed medical information and all available options.
What to do if your baby has CAH?
Your baby's doctor might prescribe medications or human growth hormone supplements to help regulate your child's growth . Children with CAH can experience delayed or rapid growth. X-rays can indicate if your child's bones are growing too quickly. Talk to your baby's doctor before starting this type of treatment.
How many babies are born with CAH?
In the United States, about one in every 15,000 babies is born with CAH. The condition may be more or less common in certain ethnic groups and geographic regions. For example, one out of 300 babies in the Yupik Eskimo population is born with CAH. The condition is less common in people of African-American and Asian descent. Non-classic CAH may occur in up to 1 in every 100 people. It appears to happen more often in people of Ashkenazi Jewish, Hispanic, Slavic and Italian background.
How many babies are born with hypothyroidism?
In the United States, about one in every 3,000 to 4,000 babies is born with congenital hypothyroidism (CH). CH affects twice as many females as males. CH occurs in people of all ethnic groups around the world. It happens more often in babies from parts of the world in which there is not enough iodine in the food and water. It is also more common in babies of Hispanic, Asian, South Pacific, and Native American ancestry. It is less common in babies of African-American ancestry.
What causes a baby to have a ch?
It is less common in babies of African-American ancestry. Most cases of CH (around 85 percent) are caused when the thyroid gland is missing, misplaced, or too small. About 80 to 85 percent of CH cases are sporadic.
What is the best treatment for CH?
The most common treatment for CH is thyroid hormone replacement therapy. Your baby may need to take L-thyroxine pills, a synthetic thyroid hormone, to replace the natural thyroid hormone that his or her body lacks. An endocrinologist can help determine the appropriate amount of L-thyroxine for your baby and write a prescription.
When does non-classic CAH start?
Non-classic CAH is much less severe than classic forms of CAH. Signs of non-classic CAH can begin in childhood, adolescence, or adulthood. Both males and females with non-classic CAH may show signs of early puberty.
Can you have more than one child with CH?
While having a child with CH is rare, when both parents are carriers, they can have more than one child with the condition. In very rare cases; CH is caused by an iodine deficiency in the mother during pregnancy. Iodine is a natural substance that the thyroid gland needs for healthy development.
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