The genetic disorders in which your adrenal glands produce insufficient adrenal hormones such as cortisol, mineralocorticoids and androgens are called congenital adrenal hyperplasia. These hormonal deficiencies result in stunted growth and development including that of the genitals.
Both males and females can develop this condition.
Mostly, these conditions are non-serious allowing people to live a normal life. However, they may also cause life-threatening problems if not managed properly.
The signs and symptoms of congenital adrenal hyperplasia differ according to the types, which include:
Classic congenital adrenal hyperplasia: Girls with this type have male-like genitalia with an enlarged clitoris, a condition called ambiguous external genitalia. It is usually identified in infancy or early childhood. In baby boys, the signs are less apparent.
Infants with classic congenital adrenal hyperplasia have the following signs and symptoms:
Talk to your child's pediatrician if signs and symptoms in your child indicate congenital adrenal hyperplasia. If your ethnic background or a medical history significantly increases your risk for this condition, you may consider genetic counseling if you are pregnant or planning to become. You may obtain certain prenatal treatments that reduce risk for the baby in your womb.
Congenital adrenal hyperplasia is a disorder of your small hormone-secreting glands called adrenal glands. Faulty genes cause reduced production of a specific enzyme called 21-hydroxylase which results in decreased secretion of cortisol. Therefore, congenital adrenal hyperplasia can also be called 21-hydroxylase deficiency. Lower the enzyme production, more severe are the signs and symptoms. Insufficient cortisol causes most of the symptoms of classic congenital adrenal hyperplasia. Cortisol, also called stress hormone, regulates your blood pressure, blood sugar and energy levels. Classic congenital adrenal hyperplasia can also cause:
Deficiency of aldosterone resulting in low blood pressure and imbalance of sodium and potassium levels. Sodium and potassium are your body’s major ions that regulate fluid balance, nerve impulse transmission and muscular movements.
Overproduction of testosterone, the male sex hormone which results in:
o Premature puberty and failure to reach average height (in boys)
The pattern in which this condition is passed from parents to children is called autosomal recessive. For a child to inherit this condition, s/he must have parents with this condition or both of them should carry the defective genes.
4 Making A Diagnosis
The diagnosis of congenital adrenal hyperplasia begins with assessment of your child’s symptoms.
If you observe severe signs in your baby at birth or in early infancy, or male-like genitalia in your baby girl, talk to your doctor. If these signs are severe and accompanied by vomiting and severe lethargy, see your doctor immediately. Visit your doctor if you observe rapid and untimely growth or premature puberty in your child. Your doctor may refer your child to an endocrinologist (a specialist in hormonal disorders).
You may also suspect nonclassic congenital adrenal hyperplasia if your daughter in her teens or young adulthood has irregular or missed menstruations, excessive hair growth (hirsutism) or fertility problems.
How to prepare yourself for the visit?
Getting prepared for the visit can optimize the therapy and help make the visit more fruitful.
List out all the symptoms.
Write down your child’s key medical information.
Write down the names of all your child’s medications, vitamins or supplements.
Make a list of the questions to ask your doctor. Some typical questions can be:
What could be the most probable cause of my child's symptoms?
What are the needed?
What are the treatment options and side effects of each option?
Will my child’s abnormal development slow down with treatment?
Is there a way to monitor my child's condition over time?
Is my child likely to develop long-term complications?
Does my child need psychological counseling?
Do we need genetic counseling?
What your doctor wants to know?
A clear talk with your doctor can optimize the therapy and improve the outcomes. Prepare yourself to answer some essential questions from your doctor. Your doctor might ask you typical questions like:
Can you explain your child's symptoms?
When did the symptoms start appearing?
Does your child get excessively tired, nauseated or have fainting episodes?
Are your child’s abnormal sexual characteristics causing social problems?
Is there a history of congenital adrenal hyperplasia in your family?
Do you wish to become parents again?
If your child’s doctor finds possibility of congenital adrenal hyperplasia, s/he recommends following tests to confirm the diagnosis:
Analysis of blood and urine: Your baby’s blood and urine are tested and if adrenal hormones namely cortisol, aldosterone and androgens are found in abnormal amounts in the sample, congenital adrenal hyperplasia is confirmed. For newborns, the hormonal tests should be done when your baby is a few days old.
Tests done to detect the condition in fetuses: These tests are done during pregnancy if you have family history of the condition. The tests include:
o Amniocentesis: The fluid in the womb is tested to detect the condition in the fetus.
Treatment before birth of your baby can be started if these tests show positive results for the condition. The risks of complications may be reduced by prenatal diagnosis and subsequent treatment.
Determining your child’s sex
Due to ambiguous external genitalia, you may not be sure if your child is a boy or a girl. If you encounter such problem, you can opt for a test called karyotyping which can confirm your child’s sex. You may also chose to conduct a pelvic ultrasound that visualizes cervix, uterus and fallopian tubes if your child is a girl.
Treatments for congenital adrenal hyperplasia can be recommended by a pediatric endocrinologist (a specialist of hormonal disorders in children). Treatments include:
Medications: Most cases are treated by externally replacing the deficient hormones. For example, daily oral hydrocortisone, a steroid can be given to replace cortisol. The doses can differ depending upon your child’s condition and in some cases, more than one drug may be used. Steroids commonly cause side effects like reduced bone mass and stunted growth which need regular monitoring to detect treatment effectiveness or dose adjustments. For girls with classic congenital adrenal hyperplasia, a high dose of cortisone may be needed to suppress development of male-like characteristics but a high of the steroid can cause Cushing's syndrome. So maintaining the right dose is important.
Surgery: Symptoms of ambiguous external genitalia such as an enlarged clitoris can be corrected by a surgery usually carried out when your baby girl is between 2 and 6 months.
Prenatal management: These treatments are carried out when your child is in the womb. If diagnosis is made when you are pregnant, you may need to take a steroid called dexamethasone.
o For female fetus: Dexamethasone can reach the fetus and suppress the secretion of male hormones (androgens) thereby limiting the development of male-like characteristics.
o For male fetus: Taking low doses of dexamethasone for a shorter duration during pregnancy can normalize adrenal glands functions.
Dexamethasone should be used with caution and it’s not clear taking it for a long duration is safe for children. When taking dexamethasone, a pregnant mother can develop obesity, mood swings and elevated blood pressure.
Hormone replacement allows affected children to live a normal and healthy life. Fertility problems can be seen in both men and women who have the condition. Girls who have undergone knife to correct ambiguous external genitalia may experience pain during intercourse. Consult your doctor about the appropriate time of surgery for your female child.
It is difficult to prevent Congenital Adrenal Hyperplasia, but steps can be taken when the baby is still in the womb.
If both the parents have congenital adrenal hyperplasia and they are planning to have a baby, genetic counseling should be considered because it is possible to diagnose and treat the condition when the baby is still in the womb.
7 Lifestyle And Coping
Lifestyle modifications of are necessary in order to cope with Congenital Adrenal Hyperplasia.
Masculine features are common in females who develop symptoms when still in the womb. In addition, girls or women with this condition may also experience a wide range of sex-related issues such as painful sex, concerns over how their genitals appear and sexual identity. Here are some suggestions for you to help your child:
• Provide support to your girl child who has this condition. Help her build a sense of strength and self-esteem.
• Listen to what she wants and feels. You may also arrange regular counseling sessions for her.
• Help her develop a sense of completeness.
• Talk to a mental health provider if necessary.
8 Risks And Complications
There are several risks and complications associated with congenital adrenal hyperplasia.
Genetic link: If a child’s parents both have congenital adrenal hyperplasia or if both carry the faulty gene, the risk for child is increased.
Ethnicity: This condition is more common in Ashkenazi Jews, Hispanics, Yugoslavs and Yupik Inuit.
Adrenal crisis: It is a life-threatening condition that can occur in babies, children or adults with classic congenital adrenal hyperplasia. An adrenal crisis can result in a seriously low blood level of sodium leading to diarrhea, vomiting, dehydration, low blood sugar levels and shock. Adrenal crisis needs immediate medical attention. Luckily, adults with nonclassic congenital adrenal hyperplasia do not develop adrenal crisis.
FindATopDoc is a trusted resource for patients to find the top doctors in their area. Be visible and accessible with your up to date contact
information, certified patients reviews and online appointment booking functionality.