Centro de Especialidades de Dallas
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Specialty Center Park Cities
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Congenital adrenal hyperplasia (CAH) is a rare condition that a child is born with. It impacts their body’s ability to make important hormones. Children's Health℠ is one of only eight CAH Centers of Excellence nationwide designated by the CARES Foundation. We’re one of only five centers with a Level I designation. This means we provide the highest level of care for CAH, even the most complex cases. Our world-renowned experts work together to meet your child’s unique needs from infancy through adolescence.
469-488-7000
Fax: 469-488-7001
Congenital adrenal hyperplasia affects the adrenal glands, which are located above each kidney. These glands make important hormones, including:
CAH has many types, and each causes different problems with these three hormones. CAH can cause girls to have genitals that make them appear more like boys. Sometimes, it causes children to enter puberty sooner than they should. In severe cases, CAH can cause serious illness.
The two major types of CAH are:
This is the rarest and most severe type of CAH. People with classic CAH aren’t able to produce any cortisol. They need medication throughout their life to help their body perform necessary functions that cortisol would normally control. These functions include regulating blood pressure and blood sugar and responding to illness. These children also have very high androgen levels, which causes problems with early puberty, growth and development.
Some children with more severe cases of classic CAH aren’t able to produce aldosterone. This is called salt-wasting because these children can’t maintain salt levels.
This is the most common type of CAH. The symptoms are mild, and some children with nonclassic CAH won’t need any medication. These children typically produce enough cortisol and aldosterone for healthy function, but they may produce excess androgens. Too many androgens can cause early puberty and impact reproductive function.
Doctors typically diagnose classic CAH when your child is an infant. Doctors and parents may notice these symptoms:
Children with classic CAH may also develop other symptoms as they grow and develop, such as:
Children with nonclassic CAH may not have symptoms until later in childhood, teenage years or early adulthood. Some people with nonclassic CAH never have symptoms. If and when they experience symptoms, it’s typically mild. Estos síntomas incluyen:
Doctors may find CAH in a prenatal ultrasound, but it often goes undetected until birth or soon after. Tests that we use to confirm a diagnosis of CAH include:
If you are pregnant and already have a child with CAH, then you have a 25% chance of having another child with CAH with each pregnancy. Your doctor may recommend prenatal testing, which can identify some types of CAH before your baby is born.
Doctors usually detect classic CAH during routine newborn screening. Doctors prick your baby’s heel at birth and collect a few drops of blood to screen for many conditions. Experts at Children’s Health work with the Texas newborn screening system to analyze test results and provide follow-up care if your baby tests positive for classic CAH. Our team coordinates any additional tests your baby might need to confirm a diagnosis and determine the best treatment.
Sometimes, a child is born with signs or symptoms of classic CAH, but they have a negative newborn screening result. In this case, your doctor may request further testing.
Newborn screening usually doesn’t detect nonclassic CAH, and children usually don’t have symptoms until they’re older.
We may use these additional tests to diagnose classic and nonclassic CAH:
CAH is an inherited genetic disorder that occurs when a child inherits a specific problem (mutation) in a gene. This gene mutation prevents the body from creating an enzyme needed to produce proper amounts of cortisol, aldosterone and androgens. About 95% of all CAH cases result from the lack of the 21-hydroxylase enzyme.
For a child to have CAH, both parents must either have CAH or be carriers for the genetic problem that causes the condition.
The Pediatric Congenital Adrenal Hyperplasia Program at Children’s Health is one of the nation’s top centers for all types of CAH. We provide the latest treatments to help children best manage their condition and enjoy full lives.
Treatment for classic CAH can include:
If your child has nonclassic CAH, they may not need treatment until they experience symptoms. If your child has symptoms, your doctor might provide medication such as hydrocortisone but in lower doses than for children with classic CAH.
When your child turns 18, we help them easily transition to adult care with the expert CAH team at UT Southwestern Medical Center.
Our team includes some of the world’s top experts in pediatric endocrinology, pediatric urology, adult and pediatric gynecology, genetics, psychiatry and psychology, social work and more. These specialists evaluate your child and provide personalized care from infancy through adolescence.
CAH medications include steroids, such as hydrocortisone and prednisone. These medications replace the hormones that your child’s body isn’t making. Because their body needs these hormones, these medications don’t produce the side effects that can result from steroid use. Prolonged use of high doses of steroids can slow down growth. Your doctor will adjust your medication with this side effect in mind.
Algunos tipos de HSC no clásica son más frecuentes en personas de ascendencia italiana, hispana y judía askenazí. Many will have no symptoms, but they can still pass the disease on to their children. Classic CAH is rare in all ethnic groups, occurring in only about one of every 15,000 births around the world.
Sometimes, people with CAH have difficulties maintaining a healthy weight. They can also have trouble controlling their blood pressure and insulin, the hormone related to blood sugar. It’s important to help your child eat a healthy diet and get daily exercise. Get Up & Go by Children’s Health offers a wide range of programs and services that can help your family make lasting healthy lifestyle changes.
It’s also important to keep doctor appointments, follow instructions for home care and report any problems, concerns or complications to your child’s doctor.
La mayoría de las mujeres que tienen HSC pueden quedar embarazadas. Some women have irregular menstruation and ovulation, which can make getting pregnant more difficult. Women born with ambiguous genitalia must undergo corrective surgery so that they can become pregnant.