Galactosemia

Definition

Galactosemia is an inherited carbohydrate metabolism disorder.  This metabolic disorder is characterized by the abnormal levels of galactose in the blood (galactosemia) and in the urine (galactosuria). People with this disorder are unable to breakdown the simple sugar galactose to glucose.

Incidence

This inborn error of metabolism occurs 1 in every 60,000 births. Higher incidence rate is noted in Ireland with about 1 case in every 20,000 population. It is less common in Asian people.

Causes

Galactosemia follows an autosomal recessive mode of inheritance that is typified by the absence or deficiency of any of the three enzymes that are involved in galactose to glucose conversion which are:

Galactokinase – uncommon Galactose 1-phosphate uridyltransferase or GALT – most common deficiency Uridine diphosphate (UDP)-galactose4-epimerase or GALE – uncommon

Physiology

Galactose, a type of sugar, has to be converted to glucose before it can be used by the body. Lactose, the sugar found in milk, is normally broken down into galactose and glucose.

1. Galactokinase (GALK) converts galactose to galactose 1-phosphate.

2. Galactose 1-phosphate uridyltransferase (or GALT) converts galactose 1-phosphate to UDP galactose. It also converts UDP glucose to glucose 1-phosphate.

3. Finally, Uridine diphosphate (UDP)-galactose 4-epimerase (or GALE) converts UDP galactose to UDP glucose to be used by the body.

To summarize, the order of galactose conversion in its metabolic pathway in relation to the enzymes it encounters starts with GALK then GALT and finally GALE.

Types of Galactosemia

Type 1 – characterized by absence of the liver enzyme GALT. It is termed as the classic galactosemia. This is the most common type. People with absent or deficient GALT have intolerance to galactose.

Type 2 – characterized by the absence of the enzyme Galactokinase (GALK). It is called as galactokinase deficiency.

Type 3 – characterized by absence of the enzyme GALE. This form of galactosemia is termed as UDP-Galactose-4-epimerase deficiency.

Pathophysiology

Absence or deficiency of galactose 1-phosphate uridyltransferase (GALT) prevents the conversion of galactose into glucose. When an infant or neonate is given milk (formula milk or breast milk), the substances made from galactose builds up in the bloodstream (galactosemia) and spills into the urine (galactosuria). These can cause severe damage to the eyes, kidneys, liver and brain.

Diagnosis

Beutler’s test – a screening test used to analyzed the cord blood if a child is known to be at risk for the disorder.

Newborn Screening Test – a heel puncture test done in newborns.

Clinical Manifestations

The symptoms begin to appear when the neonate is started on formula feeding or breastfeeding.

Lethargy Hypotonia Diarrhea

Vomiting

The symptoms start abruptly and develop rapidly leading to further manifestations:

Hepatomegaly – liver enlarges Persistent jaundice Bilateral cataracts Brain damage Ascites – fluid in the abdomen Galactosuria – galactose in urine

Untreated neonates may die by 3 days of age. Those who survived beyond the untreated 3 days may have bilateral cataracts and will be cognitively challenged.

Management

Early detection prevents fatal complications. Timely identification and management of galactosemia prevents brain damage.  Any neurologic or cataract damage present before the treatment will persist.

Galactose-free diet for life Milk substitute such as casein hydrolysates (Nutraminogen)

Phenylketonuria (PKU) is an inborn error of metabolism that results from the absence of a liver enzyme, phenylalanine hydroxylase. It is an inherited autosomal recessive trait that causes negative impact on development and mental retardation.

Phenylalanine hydroxylase enzyme is responsible for the conversion of phenylalanine (an essential amino acid) to tyrosine. The nonessential amino acid, tyrosine, is a significant element for some neurotransmitters such as dopamine, norepinephrine, epinephrine and serotonin. It is also essential in the production of melanin and function of the hormone regulating organs such as thyroid, pituitary, and adrenal glands.

Consequences of absent liver enzyme in children with PKU would result to deficient tyrosine leading to the following conditions:

Absence of serotonin, dopamine and epinephrine

Result: Faulty nerve (Nervous System) transmission

Neurotransmitters communicate impulses to the nerve cells. Lack of tyrosine would lead to deterioration of this function. Mood regulation is also connected to the presence of these chemicals (dopamine, serotonin, and epinephrine); therefore, alteration of one’s disposition and temperament will be expected.

Deficient Melanin levels

Result: Unusual skin color

Melanin is responsible for skin pigmentation. Deficient levels of melanin lead to a very fair complexion, a light blond hair and blue eyes.

Hyposecretion of thyroid hormones

Result: Permanent brain damage (Mental Retardation) and developmental delay

Thyroid glands are located at the throat that comprises the two lateral masses on each side of the trachea.  Before the two active thyroid hormones are produced, a process known as iodide trapping (iodide ion is concentrated within the thyroid) occurs. Then iodide is dissolved inside the follicular cells of the thyroid to become iodine and later released as a colloid. Colloids contain thyroglobulins which are made up of the amino acid tyrosine. Iodide when combined with tyrosine produces Monoiodotyrosine (MIT) and Diiodotyrosine (DIT). Conversion of MIT and DIT would form the two active thyroid hormone, triiodothyronine (T3) and Thyroxine (T4). These hormones are stored in the follicular cells until needed. T3 and T4 are primarily responsible for cellular metabolism affects nearly all cells in the body. They play a vital role for normal development to occur.

In PKU, no Monoiodotyrosine (MIT) and Diiodotyrosine (DIT) is formed due to absence of tyrosine. Production of T3 and T4 would be inevitable causing decrease basal metabolism, cessation of cognitive and physical development. Most children with PKU are cognitively challenged having an IQ of less than 20.

Increase Phenylalanine levels

Result: Mousy urine odor

Phenylalanine levels increase due to the absence of the liver enzyme. The end product of phenylalanine metabolism is phenylpyruvic acid (a keto acid). The by-product spills into the urine that gives it a strong “mousy” or “musty” odor that often spreads through the entire body of the infant or child. This is the reason why the disorder is called phenylketonuria (meaning there is phenylpruvic or keto acid in the urine)

Congenital Hypothyroidism

Information for Physicians andOther Health Care Providers

Definition

Congenital hypothyroidism (CH) occurs when infants are unable to produce sufficient amounts of thyroid hormone (thyroxine, or T4), which is necessary for normal metabolism, growth and brain development.

Clinical Symptoms

Although the clinical signs of hypothyroidism may be subtle, infants with CH may exhibit some of the following symptoms: feeding problems, lethargy, prolonged postnatal jaundice, delayed stooling and constipation, enlarged protruding tongue, hoarse cry, protruding abdomen with an umbilical hernia, cold mottled skin, sluggish reflexes, patent posterior fontanelle with widely spread cranial sutures or delayed skeletal maturation for gestational age.

Newborn Screening and Definitive Diagnosis

In Illinois, primary newborn screening for CH utilizes fluorometric assay to determine the thyroid stimulating hormome (TSH) level. If the TSH is elevated, the T4 level also is tested. False positive and false negative results are possible with this screening. Specimen collection prior to 24 hours of age, prematurity and illness can affect this screening. Infants with a presumptive positive screening test (seriously elevated TSH and/or low T4) require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a pediatric endocrinologist. Collection of serum TSH and T4 level also is recommended. Suspect abnormal results (moderately elevated TSH) indicate the need for repeat filter paper screening. Nearly 90 percent of CH cases are detected by newborn screening; however, the remaining 10 percent must be detected clinically. A small number of children may test normal on the newborn screen but later develop hypothyroidism. Clinicians must remain alert to signs indicative of possible hypothyroidism and clinical symptoms and/or family history of thyroid disorders indicate the need for thyroid testing, regardless of newborn screening results. Same birth siblings (twins, triplets) of infants diagnosed with CH should be re-screened; additional testing of these siblings also may be indicated.

Treatment

Immediate diagnosis and treatment of congenital hypothyroidism in the neonatal period is critical to normal brain development and physical growth. Treatment is usually effective if started within the first few weeks of life. Delayed treatment may result in decreased intellectual capacity. Recommended treatment is lifetime daily administration of levo-thyroxine. Only the tablet form of levo-thyroxine should be prescribed. The U.S. Food and Drug Administration has not approved liquid suspensions. Suspensions prepared by pharmacists may lead to unreliable dosage. The tablets should be crushed daily, mixed with a few milliliters of water, formula or breast milk and fed to the infant. Levo-thyroxine should not be mixed with soy formula or with formula containing iron, as these products

interfere with absorption of the medication. Dosage will need to be gradually increased as the infant grows.

Incidence

Congenital hypothyroidism occurs in one of every 3,500 to 5,000 births; it is twice as common in females as in males. CH also is more common in Caucasians than African Americans by 5:1. The incidence of CH may be 40 percent higher among Hispanic populations than among Caucasians. Incidence is believed to be still greater among Native American and Asian populations. Illinois began screening for congenital hypothyroidism in 1979 and has since identified more than 1,500 cases. On average, the Newborn Screening Program identifies 60-70 new cases of CH each year.

Inheritance Pattern

Congenital hypothyroidism occurs sporadically and is not usually an inherited disorder. The disorder is not associated with any prenatal lifestyle or risk factors. A more rare form of CH (about 15 percent of the cases) does involve an inborn (autosomal recessive) error in thyroid hormone synthesis.

Physiology

The thyroid gland produces triodothyronine (T3) and thyroxine (T4) in response to pituitary gland stimulation. The body can convert T3 to T4, and a biofeedback mechanism maintains adequate levels of thyroxine for body metabolism and, in children, normal growth and brain development. Thyroxine, which has no specific target organ sites, is vital to normal function in all organs, tissues and cells in the body. T4 controls the body’s metabolic rate. Thyroxine deficiency in infancy can cause severe, irreversible mental and physical retardation, a condition known as cretinism.

There are several types of primary CH, the most common form resulting from abnormal fetal development of the thyroid gland. The thyroid gland may be absent, mislocated (ectopic) or malformed. Transient hypothyroidism may occur in some infants as a result of maternal exposure to excess iodine, antithyroid medications (propylthiouracil or PTU), or exposure of the infant to maternal antithyroid antibodies. The use of iodine-based skin disinfectants on neonates, especially premature neonates, can inhibit thyroxine production resulting in transient hypothyroidism. Untreated maternal hypothyroidism also can result in low fetal levels of thyroxine.

Key Points for Parents

Avoid overly alarming the child’s parents if the diagnosis of CH has not yet been confirmed. If the child needs additional testing or diagnostic evaluation, make

certain the parents understand the importance of following the pediatrician’s and /or specialist’s recommendations for additional testing and referrals.

Follow-up After Confirmation of Diagnosis

These guidelines should be followed after a diagnosis of congenital hypothyroidism has been confirmed:

1. Parents should understand that treatment for primary congenital hypothyroidism will be lifelong.

2. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multidisciplinary approach is recommended and should include the following specialties: pediatrics and endocrinology. Infants and children with congenital hypothyroidism should have regular follow-up appointments with a pediatric endocrinologist. Periodic hearing evaluations also are recommended for children with CH, as hearing disorders are sometimes associated with congenital hypothyroidism.

3. Genetic counseling services may be indicated. A list of counselors and geneticists, whose services are available through the Illinois Department of Public Health, should be given to the parents if they have not already seen a geneticist.

4. Provide a list of support services available within the community, such as the local health department and Early Intervention service providers.

5. For more information about newborn screening in general and about congenital hypothyroidism specifically, contact the National Newborn Screening and Genetics Resource Center, 1912 W. Anderson Lane, Suite 210, Austin, TX 78757; telephone 512-454-6419; fax 512-454-6509. Other resources include: GeneTests and Online Mendelian Inheritance in Man.

Overview of G6PD Deficiency

G6PD deficiency is an inherited condition in which the body doesn't produce enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections. See contraindicated substances for a list of things to avoid.

Most people with G6PD deficiency live without noticable symptoms, while others develop symptoms of anemia only after RBCs have been destroyed, a condition called hemolysis. In these

cases, the hemolysis usually stops once the cause, or trigger, is removed. Many who do not experience noticable symptoms early in life can develop them as they get older. In some cases, G6PD deficiency leads to chronic hemolytic anemia.

With the right precautions, a child with G6PD deficiency can lead a healthy and active life.

About G6PD Deficiency

G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. G6PD also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications, consums some foods or when the body is fighting an infection.

In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.

Causes of G6PD Deficiency

G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.

G6PD deficiency is most common in African-American males. Many African-American females are partially G6PD deficient, meaning they can pass the gene for the deficiency to their children but their symptoms are less severe unless both X chromosomes are affected by G6PD deficiency.

People of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews, also are commonly affected. The severity of G6PD deficiency varies among these groups — it tends to be milder in African-Americans and more severe in people of Mediterranean descent. For a scientific discussion of the different strains of G6PD Deficiency, go here.

Why does G6PD deficiency occur more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD- deficient cells. So they believe that the deficiency may have developed as a protection against malaria.

G6PD Deficiency Symptom Triggers

Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:

illness, such as bacterial and viral infections certain painkillers and fever-reducing drugs certain antibiotics (especially those that have "sulf" in their names) certain antimalarial drugs (especially those that have "quine" in their names)

Some kids with G6PD deficiency can tolerate the medications in small amounts; others cannot take them at all. Check with your doctor for more specific instructions. Go here for a list of medications that could pose a problem for a child with G6PD deficiency.

Other substances can be harmful to kids with this condition when consumed — or even touched — such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be particularly harmful if a child accidentally swallows one, so ANY contact should be avoided.

Symptoms of G6PD Deficiency

A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no visible symptoms at all. In more serious cases, a child may exhibit symptoms of anemia (also known as a hemolytic crisis), including:

paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)

extreme tiredness rapid heartbeat rapid breathing or shortness of breath jaundice, or yellowing of the skin and eyes, particularly in newborns an enlarged spleen dark, tea-colored urine

Once the trigger is removed or resolved, the symptoms of G6PD deficiency usually disappear fairly quickly, typically within a few weeks.

If symptoms are mild, no medical treatment is usually needed. As the body naturally makes new red blood cells, the anemia will improve. If symptoms are more severe, a child may need to be hospitalized for supportive medical care.

Diagnosing and Treating G6PD Deficiency

In most cases, cases of G6PD deficiency go undiagnosed until a child develops symptoms. If doctors suspect G6PD deficiency, blood tests usually are done to confirm the diagnosis and to rule out other possible causes of the anemia.

If you feel that your child may be at risk because of either a family history or your ethnic background, talk to your doctor about performing a screening with blood tests to check for G6PD deficiency.

Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger — that is, treating the illness or infection or stopping the use of a certain drug. However, a child with severe anemia may require treatment in the hospital to receive oxygen, fluids, and, if needed, a transfusion of healthy blood cells. In rare cases, the deficiency can lead to other more serious health problems or death.

Caring for Your Child

The best way to care for a child with G6PD deficiency is to stop exposure to the triggers of its symptoms. With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life.

Contraindicated vs Allergy.

G6PD Deficiency does not cause individuals to be allergic to the substances below as commonly believed. An allergy causes itchy eyes, runny nose, etc. whereas in a person with G6PD Deficiency these substances cause red blood cells to burst (hemolysis) and can lead to hemolytic anemia.

G6PD Deficiency Drugs to Avoid and Other Contraindicated Substances

Low Risk drugs, medicine, foods and other substances below MAY be safe at normal theraputic doses. People with Class 1 G6PD Deficiency (ie: Mediterranean variant among others) may still react to low risk substances. Consult with your physician before using any of these substances.

We try our best to keep this list up to date, but the constant influx of new drugs, medicines and research makes this task quite difficult. To be safe the following classes of drugs, medicines and other substances should be avoided if at all possible.

1. NSAIDS (Asprin, Ibuprophen)2. Tylenol3. Quinolones4. Drugs metabolized through the liver or known to cause blood or liver related

problems or hemolysis5. Sulfa drugs6. Petrochemically derived substances (This is a long list and gets longer every year.

Many artificial foods, dyes and vitamins are included in this list.)7. Moth Balls and anything containing naphthalene.8. Artificial Food Coloring (Methylene and Toluidine blue)

Congenital Adrenal Hyperplasia What is congenital adrenal hyperplasia?Congenital adrenal hyperplasia, also known as CAH or 21-Hydroxylase Deficiency, is a genetic disorder of the adrenal glands.

Normally, the adrenal glands help keep the body in balance by making the right amounts of hormones, such as cortisol, aldosterone, and androgens. 

In people with congenital adrenal hyperplasia, the body doesn’t make enough of the hormone cortisol.  Their bodies may also not make aldosterone.  Instead, their adrenal glands make too much androgen. 

(View a picture of the adrenal glands and a patient education page about the adrenal glands)

Congenital adrenal hyperplasia is caused by an error on a single gene.  It is inherited, meaning it is passed down from parents to their children. Congenital adrenal hyperplasia is the most common autosomal recessive genetic disorder in humans. 

What are the symptoms of congenital adrenal hyperplasia?Symptoms of congenital adrenal hyperplasia range from mild to serious.  Some people with mild congenital adrenal hyperplasia might never be diagnosed because their symptoms do not cause them any problems. 

Symptoms of the mild form of CAH may include:

← Shorter height than their parents ← Early signs of puberty (in children) ← Acne ← Irregular periods and possible trouble getting pregnant (in women) ← Excess facial hair (in women)

Symptoms of the severe form of CAH may include:

← Dehydration ← Low blood pressure ← Low blood sugar level ← Trouble keeping enough salt in their bodies ← Altered development of the external genitalia in girls which is noted at birth and may require

surgery to correct ← Shorter height than their parents ← Early signs of puberty (in children) ← Irregular periods and possible trouble getting pregnant (in women) ← Excess facial hair (in women) ← Benign testicular tumors and infertility (in men)

Testing for the severe form of congenital adrenal hyperplasia is now part of routine newborn screening done in most states.

What are the treatments for congenital adrenal hyperplasia?

Congenital adrenal hyperplasia can’t be cured, but it can be treated.  People with congenital adrenal hyperplasia can take medication to help replace the hormones their bodies are not making. Some people with congenital adrenal hyperplasia (those with the mild form) only need these medications when they are sick, while others (those with the severe form) need to take them every day for their entire life. The severe form of CAH can be life threatening without medication.

Definition

Congenital adrenal hyperplasia (CAH) is an inborn error of steroid biosynthesis. Individuals with CAH due to 21 hydroxylase enzyme deficiency cannot produce adequate amounts of cortisol and, in some cases, also are aldosterone deficient. These hormones are essential to glucose metabolism and salt reabsorption; untreated CAH can very suddenly lead to adrenal insufficiency with dehydration, shock and even death.

Clinical Symptoms

Female infants with 21 hydroxylase deficient CAH usually have some degree of virilization (ambiguous genitalia) due to their exposure to excessive androgen

levels in utero. Although male infants usually appear normal at birth, they may have an enlarged penis and scrotum with increased pigmentation. Symptoms of salt wasting CAH include frequent urination and, in some cases, poor feeding, which can rapidly progress to vomiting, dehydration, electrolyte changes and cardiac arrhythmia. Infants with CAH who are not diagnosed and treated early are particularly susceptible to sudden death in the first few weeks of life. In older children, CAH may result in rapid growth and precocious puberty with premature skeletal maturation.

Newborn Screening and Definitive Diagnosis

In Illinois, newborn screening for CAH due to 21hydroxylase deficiency is by fluorometric assay to measure the 17 hydroxy (OH) progesterone level. False positive and false negative results are possible with this screening. Specimen collection prior to 24 hours of age, prematurity and illness can affect this screening, as physiological stress can cause a normal elevation of the 17-OH progesterone level. Treatment with hydrocortisone or dexamethasone may result in false negative screening results. Infants with a presumptive positive screening test (seriously elevated 17-OH progesterone level) require prompt follow-up and, when notified of these results, the clinician should immediatelycheck on the clinical status of the baby and refer the infant to a pediatric endocrinologist. Measurement of serum 17-OH progesterone level and serum electrolytes is also recommended. Suspect abnormal (moderately elevated 17-OH progesterone) results require repeat filter paper screening as soon as possible. The seriousness of CAH requires additional testing for all abnormal test results, although monitoring of pre-term or sick neonates in a neonatal intensive care setting may be at the discretion of the neonatologist.

Treatment

Treatment for CAH includes lifetime daily medication. Oral hydrocortisone in children, and prednisone or dexamethasone for older individuals, replaces missing cortisol. Hydrocortisone is usually given at regular intervals three times a day. In cases of salt wasting CAH, in addition to hydrocortisone, fludrocortisone is prescribed to correct aldosterone deficiency. Infants and small children with salt wasting CAH also may require salt tablets as a dietary supplement. Regulation of medication dosage is vital, as improper dosage can result in either growth delay or premature bone epiphyseal closure. Female infants with ambiguous genitalia may require re-constructive surgery.

Incidence

Congenital adrenal hyperplasia occurs in one of every 15,000 births. Illinois began screening for CAH in 1987 and has since identified more than 190 cases. On average, 10-15 new CAH cases are identified each year.

Inheritance Pattern

The vast majority (90 percent) of CAH cases result from 21-hydroxylase deficiency. The only form of CAH detected by newborn screening, 21-hydroxylase deficiency is inherited in an autosomal recessive pattern. As with other autosomal recessive disorders, the parents of a child with CAH are unaffected, healthy carriers of the condition and have one normal gene and one abnormal gene. With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene, resulting in CAH. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier and a 25 percent chance of having an unaffected, non-carrier child. These risks hold true for each pregnancy. All siblings of infants diagnosed with congenital adrenal hyperplasia should be tested; genetic counseling services should be offered to the family.

Physiology

The adrenal gland converts cholesterol into glucocorticoids (cortisol), mineral corticoids (aldosterone) and sex hormones (androgens, estrogens and progestins) in response to ACTH stimulation by the pituitary gland.

Cortisol, the body’s stress hormone, controls protein and carbohydrate metabolism and is vital to the body’s response to physiological stresses, such as infection, surgery or trauma.

Aldosterone helps to maintain the body’s fluid and electrolyte balance by promoting sodium reabsorption and potassium excretion within the kidneys.

Androgen, the male sex hormone, helps to control growth and sexual development. Prior to 12 weeks gestation, fetal genital tissues are alike in both males and females. At 12-14 weeks, androgens from the testes in a male fetus result in normal male genital development. In CAH, excess cortisol precursor is converted to excess androgen. In females, this excess androgen exposure in utero results in virilization of the external genitalia.

Infants with CAH may very quickly develop adrenal insufficiency, hypoglycemia, metabolic acidosis, dehydration and shock. There are two classifications of CAH due to 21 hydroxylase deficiency: simple virilizing CAH, with cortisol deficiency, and salt wasting CAH, with both cortisol and aldosterone deficiency. Salt wasting CAH may result in severe dehydration with electrolyte imbalance (hyponatremia and hyperkalemia). In both forms of CAH, there is excess androgen production, which may cause precocious puberty.

Key Points for Parents

Avoid overly alarming the child’s parents if the diagnosis of CAH has not yet been confirmed. If the child needs additional testing or diagnostic evaluation, make certain that the parents understand the importance of following the pediatrician’s and/or specialist’s recommendations for additional testing and referrals.

Follow-up After Confirmation of Diagnosis

These guidelines should be followed after a diagnosis of congenital adrenal hyperplasia has been confirmed:

1. Parents should understand that treatment is lifelong and that compliance with medication and frequent blood monitoring are imperative to the child’s health, growth and development. Although children with CAH are usually healthy, any illness (for example, fever, vomiting or injury) requires prompt notification of the child’s physician, as the cortisol dosage may need to be increased. In addition, parents should keep injectable hydrocortisone on hand at all times. If the child has repeated vomiting or is unable to hold down fluids, parents should call the specialist immediately. In emergencies, parents must be prepared to administer injectable hydrocortisone if instructed to do so by the physician. Children and adolescents with CAH should wear medical identification bracelets or necklaces to alert health care providers to his/her condition and to insure proper medication is provided in an emergency.

2. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multidisciplinary approach is recommended and should include the following specialties: pediatrics, endocrinology and, in some cases, pediatric reconstructive surgery. Infants and children with congenital adrenal hyperplasia should have regular follow-up appointments with a pediatric endocrinologist to regulate medication regimens.

3. Genetic counseling services are recommended. A list of genetic counselors and geneticists, whose services are available through the Illinois Department of Public Health, should be given to the parents if they have not already seen a geneticist.

4. Provide a list of available support services within the community, such as the local health department and Early Intervention service providers.

5. For more information about newborn screening in general and about congenital adrenal hyperplasia specifically, contact the National Newborn Screening and Genetics Resource Center, 1912 W. Anderson Lane, Suite 210, Austin, TX 78757; telephone 512-454-6419; fax 512-454-6509. Other resources include: GeneTests and Online Mendelian Inheritance in Man.