Congenital Adrenal Hyperplasia (CAH)

Congenital Adrenal Hyperplasia is a group of inherited conditions that affect the adrenal glands. The adrenal glands sit above the kidneys and produce several hormones including cortisol and aldosterone that are essential for life. The most common form of CAH is 21-hydroxylase deficiency resulting in a lack of cortisol and aldosterone production which is life threatening. There are both mild and severe forms of CAH. Newborn screening usually catches the severe forms; however, it may miss the milder forms of CAH.

Signs and Symptoms

Severe (Classic or Early Onset)

• Vomiting, Poor Feeding
• Electrolyte Imbalance (Low Sodium, High Potassium)
• Poor Growth
• Dehydration
• In Girls-Masculinized Genitalia

Mild (Non-Classic or Late Onset)

Girls:

• Early Pubic Hair, Underarm Hair or Acne
• Excessive Acne and Irregular Periods
• Possible Signs or Diagnosis of PCOS (Polycystic Ovarian Syndrome)

Boys:

• Early Development of Pubic, Underarm Hair
• Enlarged Penis without Testicular Growth
• Early Facial Hair

Evaluation
In infants, blood tests are drawn to evaluate adrenal hormone levels, specifically cortisol (usually low) and 17 OH Progesterone (high in 21-hydroxylase deficiency) as well as electrolytes. Further testing includes an ACTH stimulation test and possibly genetic testing. If the child presents later in life, blood tests in addition to a bone age x-ray may be done to evaluate bone maturity.

Treatment
Treatment involves replacing cortisol by taking daily hydrocortisone, usually 3 times per day. Children who are also known to be salt wasters (deficiency of aldosterone) are given fludrocortisone along with salt replacement in infants. Children will need to take extra steroids (hydrocortisone) in times of stress or illness due to adrenal insufficiency caused by CAH. Children who have abnormal genitalia will also need to be followed by a Pediatric Urologist for possible surgical intervention.

For more information visit: www.caresfoundation.org

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Adrenal Insufficiency

Adrenal Insufficiency occurs when there is not an adequate production of steroids from the adrenal glands. This can be due to a condition involving the pituitary gland or the adrenal gland itself. Steroid hormones (cortisol and aldosterone) are responsible for helping the body handle stress as well as regulating blood pressure and electrolyte & water balance.

Signs and Symptoms

• Excessive Fatigue
• Weight Loss
• Poor Appetite
• Nausea, Vomiting, Abdominal Pain
• Darkening of skin
• Salt Craving

Evaluation
A blood test looking at ACTH levels as well as cortisol levels may be drawn first thing in the morning, usually around 8 am. This is usually accompanied by an ACTH stimulation test for further evaluation of the pituitary and adrenal gland response to cosyntropin, a synthetic form of ACTH. If there is a concern for Addison’s Disease, adrenal antibodies may be drawn as well.

Treatment
Treatment involves replacing the steroid hormones that are not being adequately produced. Cortisol can be replaced through daily hydrocortisone or prednisone and aldosterone can be replaced by daily Fludrocortisone tablets. The patient and family will need to learn dosage of these medications in times of stress or illness as well.

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Other Endocrine Conditions

Endocrinology encompasses many body systems as it entails the study of hormones that affect multiple organ systems. There are other conditions that Pediatric Endocrinologists are involved in treating, some are listed below:

• Turner’s Syndrome
• Noonan’s Syndrome
• Kleinfelter’s Syndrome
• Russell-Silver Syndrome
• Beckwith Weidman Syndrome
• Down Syndrome
• Polycystic Ovarian Syndrome (PCOS)
• Cushing’s Disease
• Bone Diseases (Osteoporosis, Rickets)
• Calcium and Phosphorous Metabolism
• Parathyroid Disorders

Pituitary Disorders

The Pituitary gland is located at the base of the brain behind the eyes also known as the “Master Gland” of the body. It controls multiple hormones and can be affected from birth or later in life. Congenital or acquired cases can cause the pituitary gland to be deficient in one or several hormones. The pituitary gland is responsible for producing ACTH (adrenocorticotropic hormone), TSH (thyroid stimulating hormone), GH (growth hormone), ADH (anti-diuretic hormone), LH (luteinizing hormone) and FSH (follicle stimulating hormone). Panhypopituitarism is a deficiency in one or more of these hormones. Congenital conditions such as septo-optic dysplasia or other anatomic abnormalities can be the culprit in infants. In older children, radiation to the brain or tumors can cause panhypopituitarism.

Signs and Symptoms

Infants:

• Underdeveloped genitalia
• Low Blood Sugars
• Persistent Nystagmus (wandering eyes)
• Diabetes Insipidus (excessive urination with dehydration)

Older Children

• Poor Growth
• Increased Thirst and Urination
• Fatigue
• Delayed Puberty
• Visual Changes

Evaluation

Usually, the evaluation begins with blood tests to look at the various pituitary hormones and possibly an ACTH stimulation test. If there is a concern for Diabetes Insipidus (lack of ADH), urine tests or a water deprivation test may be done. MRI of the brain may also be done to evaluate the anatomy of the pituitary gland.

Treatment

Treatment involves replacing any hormones that are deficient with hormone replacement therapy. If there is an anatomical cause such as Septo-Optic Dysplasia, the child may also need to be followed by Ophthalmology and Neurology. If there is concern for a tumor, an oncologist may also be consulted.

Hypothyroidism – Congenital

Congenital Hypothyroidism is when a baby is born with low thyroid hormone levels. It can occur in several scenarios, 1) when the thyroid gland does not develop properly during the pregnancy, 2) when the thyroid is not properly producing thyroid hormone, or 3) when the mother makes antibodies that interfere with the baby’s thyroid hormone production. Congenital Hypothyroidism can be temporary or permanent. In either case, it is very important to treat the condition early because thyroid hormone is essential for normal brain development.

Symptoms of Congenital Hypothyroidism

• Usually caught early enough that there are very few symptoms
• Jaundice
• Constipation
• Poor Feeding
• Umbilical Hernia
• Thick tongue, or sticking tongue out
• Poor Growth
• Poor Muscle tone, floppy baby

Evaluation of Congenital Hypothyroidism

In the United States, each state performs newborn screening that tests for congenital hypothyroidism so it can be caught by 2 weeks of age. Otherwise, blood tests are done to look at Free T4, T4 (thyroid hormone) and TSH (thyroid stimulating hormone). A thyroid scan or ultrasound may be done as well to look at the anatomy of the thyroid gland. Very rarely thyroid hormone abnormalities may be due to the lack of a signal from the pituitary gland in the brain; if this is the case, further pituitary hormones will also be screened.

Treatment of Congenital Hypothyroidism

Congenital Hypothyroidism is treated with thyroid hormone replacement as soon as this condition is suspected. It is available in a pill form that can be crushed and given with a small amount of water to the baby. When a baby is first diagnosed a Pediatric Endocrinologist will follow closely with blood tests and frequent office visits to monitor growth and development. As the child gets older the visits and lab work are less frequent.

Hypothyroidism – Acquired

Acquired hypothyroidism is typically seen in older children and is usually autoimmune, meaning the immune system attacks healthy thyroid tissue by mistake. Other common causes include damage to the thyroid gland by medication, radiation or surgery. Autoimmune hypothyroidism is the most common cause of hypothyroidism in children and is typically seen in the adolescent years and is more common in females.

Signs and Symptoms of Acquired Hypothyroidism

• Fatigue
• Mild Weight Gain
• Constipation
• Dry skin and hair
• Cold Intolerance
• Slow Speech
• Puffy Face
• Poor Growth
• Swollen thyroid gland

Evaluation of Acquired Hypothyroidism

Blood tests, including free T4 (thyroid hormone) and thyroid stimulating hormone (TSH), are key to diagnosing hypothyroidism. Usually, imaging is not needed unless the physician feels a thyroid nodule or irregularity on physical examination of the thyroid gland; in these cases, a thyroid ultrasound might be performed.

Treatment of Acquired Hypothyroidism

Therapy generally consists of thyroid hormone replacement pills that can be crushed or chewed. The pills should be taken at the same time every day and should not be mixed with certain vitamins (containing iron) or soy products. Labs are usually checked every 4-6 weeks initially while adjusting the dose.

Hyperthyroidism (Excess thyroid hormone)

Hyperthyroidism is an overactive thyroid that is producing too much thyroid hormone. The excess thyroid hormone causes an increase in the body’s metabolism causing weight loss, rapid heart rate, and heat intolerance. The most common cause in children and adolescents is autoimmune also known as Grave’s Disease.

Signs and Symptoms

• Enlarged thyroid gland or goiter
• Rapid Heart Rate
• Tremor or Shakiness
• Irregular Menstrual Cycles
• Bulging Eyes
• Weight Loss
• Heat Intolerance or Sweating

Evaluation

Blood tests are initially drawn to check thyroid function, including thyroid hormones (Free T4, T3) and thyroid stimulating hormone (TSH). Thyroid antibodies that are seen in Grave’s Disease may also be drawn to help confirm the cause of the hyperthyroidism. If the cause is not clear your Pediatric Endocrinologist may order thyroid imaging such as an ultrasound or thyroid uptake scan for further evaluation.

Treatment includes oral antithyroid medication, such as Methimazole. Radioiodine ablation can also be used initially or if oral medication is not tolerated or effective. Thyroidectomy, which is a surgical procedure to remove the thyroid, can also be performed as therapy for hyperthyroidism. If radio ablation or surgery is performed, lifelong thyroid hormone replacement therapy will be needed.

Delayed Puberty

Puberty is considered delayed if a girl shows no outward signs of puberty (breast development) by age 13 or a boy shows no signs (testicular enlargement) by age 14. Often times this can simply be a family trait, but this can also be a sign of other medical conditions including genetic or chromosomal abnormalities.

Signs of Delayed Puberty

Girls:

• Lack of breast development by age 13
• More than 5 years between breast development and menstrual period
• No menstrual period by age 16

Boys:

• Lack of testicular enlargement by age 14
• Lack of pubic hair by age 15
• Have not completed puberty after 5 years

Evaluation of Delayed Puberty

A child with signs of delayed puberty may undergo a blood test to look at hormone levels and sometimes chromosome abnormalities; a bone age x-ray is used to look at the maturity of the bones in the hand. Occasionally an MRI is done as well to look at the pituitary gland, which controls the timing of puberty; further imaging of the gonads (ovaries, testes) may be done if necessary.

Treatment of Delayed Puberty

Often times delayed puberty is nothing to worry about and may be watched closely by a Pediatric Endocrinologist. Sometimes delayed puberty can by psychologically stressful for an adolescent, so hormonal therapy with physiologic doses of testosterone (for boys) or estrogen (for girls) may be started. Occasionally a genetic syndrome such as Turner’s Syndrome or Kleinfelter’s Syndrome may be found and will need to be treated long term by an Endocrinologist to help them progress through puberty.

Precocious Puberty (Early)

Precocious puberty refers to when children begin puberty (sexual development) abnormally early. In a girl, this is generally before age 7-8 and in a boy, this is generally before the age of 9. The age of puberty does vary slightly between different ethnic backgrounds. Most of the time there is no cause for the early puberty, and this is most often seen in girls and less in boys. Rarely a medical condition affecting the brain or gonads (ovaries or testes) can cause the early puberty.

Signs of Early Puberty in Girls:

• Breast enlargement
• Rapid growth spurt
• Vaginal discharge or bleeding

Other Signs to Watch for:

• Pubic hair growth
• Underarm hair growth
• Body odor/acne

These signs are usually related to true puberty but can start on their own as early as age 5-6. This is known as Premature Adrenarche and may not affect the time a girl starts her menses (period).

Signs of Early Puberty in Boys:

• Enlargement of testicles or penis
• Pubic or underarm hair
• Rapid growth spurt
• Acne/body odor
• Voice changes (deepening)

Evaluation of Precocious Puberty

A child with signs of early puberty may undergo a blood test to look at hormone levels and a bone age x-ray to look at the maturity of the bones in the hand. If any of these are concerning, a Pediatric Endocrinologist may do further testing to look for Precocious Puberty which may include a Leuprolide Stimulation Test and/or MRI of the brain.

Treatment of Precocious Puberty

If the brain is giving the ovaries or testes a signal to start early puberty then hormone therapy is given to stop the puberty. If there is another cause to the puberty such as a tumor, then that is removed or treated. If left untreated, children with early puberty can grow rapidly at first, but then stop growing at a much younger age when compared with their peers and may end up being shorter than expected.

For more information visit: www.lupronped.com or www.supprelinla.com

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*Please note that pages of this site may be linked to other websites, which may have different terms of use and privacy practices than Privia Medical Group. Privia does not own, control, manage, supervise, direct, or otherwise have involvement in such other websites or the content of such websites. Privia is not responsible for the content of any linked websites. Privia is not acting as an agent for these websites, nor does Privia endorse or guarantee, in any way, their websites, content, or products. Privia makes no representation or warranty regarding the accuracy of information contained in linked websites, takes no responsibility for the use of copyrighted or otherwise protected materials on such linked websites, and has no control over the privacy practices or use of user information at such linked websites.

Growth Hormone Deficiency in Children

Growth Hormone is a protein made by the pituitary gland in the brain that is responsible for growth and development during childhood. If a child is deficient in this protein then they may exhibit short stature, or be shorter than expected for their age or genetics. While there are rare known causes of Growth Hormone Deficiency, most times the cause is unknown. If Growth Hormone Deficiency is severe it may be present from birth and be associated with other pituitary hormone deficiencies such as those controlling the thyroid gland, adrenal glands or kidney/water balance.

Symptoms of Growth Hormone Deficiency

• Slow growth of usually less than 2 inches per year
• May not present until after 2-3 years of age
• May have a slightly round or chubby face
• Delayed puberty

Evaluation and Treatment of Growth Hormone Deficiency

Not all children with short stature are growth hormone deficient, so a careful examination with blood tests and a bone age x-ray need to be done to search for other causes of poor growth. These may include Gastrointestinal conditions, Genetic conditions, Delayed Growth and Puberty, or Familial Short Stature.

If a child has seen a Pediatric Endocrinologist, had a thorough evaluation and there is suspicion for Growth Hormone Deficiency, they may need to have a Growth Hormone Stimulation Test performed to confirm the diagnosis. Many doctors will watch the child’s growth closely over 6-12 months before performing the stimulation test. If this test confirms Growth Hormone Deficiency then an MRI of the brain is scheduled to look at the pituitary gland.

Treatment includes taking Growth Hormone Replacement Therapy, which is administered by an injection 6-7 days/week.

Visit for more information: www.magicfoundation.org and www.nlm.nih.gov

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External Content Disclaimer

*Please note that pages of this site may be linked to other websites, which may have different terms of use and privacy practices than Privia Medical Group. Privia does not own, control, manage, supervise, direct, or otherwise have involvement in such other websites or the content of such websites. Privia is not responsible for the content of any linked websites. Privia is not acting as an agent for these websites, nor does Privia endorse or guarantee, in any way, their websites, content, or products. Privia makes no representation or warranty regarding the accuracy of information contained in linked websites, takes no responsibility for the use of copyrighted or otherwise protected materials on such linked websites, and has no control over the privacy practices or use of user information at such linked websites.

Type 2 Diabetes in Children

Just a few years ago, it was rare to hear about a child with Type 2 Diabetes. It used to be thought that if diabetes occurred in childhood, it was Type 1, or juvenile-onset, diabetes. Not anymore. Now, according to the CDC, more than 186,000 people younger than age 20 have diabetes — both Type 1 and Type 2 diabetes, formerly called adult-onset diabetes. How can you prevent this threat to your child’s health? What can you do if your child is diagnosed with Type 2 diabetes?

What is Type 2 Diabetes?

The digestive system breaks down carbohydrates into blood sugar glucose. The pancreas creates a hormone called insulin to lead glucose from the blood vessels into the cells of the body to be used for energy.

In type 2 Diabetes, the cells in a child’s body are resistant to the effects of insulin and glucose builds up in the bloodstream. Eventually, this causes glucose to reach dangerous levels in the body.

Over time, the body becomes increasingly less able to handle all the glucose in the blood vessels. The high blood sugar can then lead to diabetes complications, such as heart disease, blindness, nerve damage, and kidney failure.

Risk Factors for Type 2 Diabetes in Children

The following risk factors are associated with an increased risk of Type 2 Diabetes in children:

• Being overweight
• Family history of diabetes
• Female gender
• Specific ethnic groups (American Indian, African-American, Asian, or Hispanic/Latino)
• Other problems with insulin resistance (most people with type 2 diabetes in childhood are diagnosed at the start of puberty, a developmental stage where there’s increased resistance)

The single greatest risk factor for Type 2 Diabetes in children is excess weight. In the U.S., nearly one out of every five children is considered to be overweight. Once a child is overweight, chances are more than doubled that the child will develop diabetes. One or more of these factors may contribute to excess weight or obesity:

• Unhealthy eating patterns
• Lack of physical activity
• An inherited tendency
• Rarely, a hormone problem or other medical condition
• Certain medications, such as steroids

In addition, as with adults, the risk of type 2 Diabetes in children appears to be associated with excess abdominal weight. This obesity pattern increases the chance of insulin resistance and the risk of type 2 Diabetes.

Symptoms of Type 2 Diabetes

• Increased Thirst
• Frequent Urination
• Dry Mouth
• Darkening skin around neck and other skin folds
• Unintentional Weight Loss

Treatment of Type 2 Diabetes in Children

Type 2 Diabetes in children can sometimes be treated with oral medications or weight loss if mild, but if more advanced will usually need insulin as well. For some children changes in lifestyle resulting in increased exercise and weight loss can help the insulin work better and reverse some of the long-term changes seen in Type 2 Diabetes.

*adapted from WebMd

What is type 1 Diabetes?

Type 1 Diabetes is a disease that starts when the pancreas stops making insulin. Insulin lets blood sugar, also called glucose, enter the body’s cells to be used for energy. Without insulin, the cells can’t get the sugar they need, and too much sugar builds up in the blood.

Diabetes can cause sudden or long-term problems. If the body doesn’t have enough insulin and the blood sugar gets very high, a sudden and very serious problem called diabetic ketoacidosis can happen. This can be deadly. Over time, high blood sugar can damage the eyes, heart, blood vessels, nerves, and kidneys. Type 1 Diabetes can occur at any age, but it usually starts in children or young adults. That’s why it used to be called juvenile diabetes.

Type 1 Diabetes is different from Type 2 Diabetes, which is the most common form of the illness. In type 1, the body stops making insulin. In type 2, the body does not make enough insulin, or the body can’t use insulin the right way. All people with type 1 Diabetes need to take insulin. Some people with type 2 Diabetes also need insulin, but most people can use diet, exercise, and medicine in pills to treat that illness.

There isn’t a cure for type 1 Diabetes. But with treatment, people can live long and healthy lives.

What causes type 1 Diabetes?

The body makes insulin in beta cells, which are in a part of the pancreas called the islet (say “EYE-let”) tissue. Type 1 diabetes starts because the body destroys the beta cells. Experts don’t know why this happens.

Some people have a greater chance of getting type 1 diabetes because they have a parent, brother, or sister who has it. But most people with the illness don’t have a family history.

Symptoms of Uncontrolled Type 1 Diabetes

• Excessive Thirst
• Excessive Urination
• Weight Loss
• Excessive Hunger
• Fruity Odor to Breath, Heavy Breathing, Excessive Sleepiness (signs of Diabetic Ketoacidosis)

Treatment for Type 1 Diabetes in Children

Treatment includes multiple daily injections of insulin to help mimic the actions of the pancreas and control blood sugars. This can also be done using an insulin pump. Children are to check blood sugars several times per day using a blood glucose meter and families and the healthcare team make changes regularly to keep blood sugars within target range. Keeping sugars in a good target range can help decrease any complications. If patients take their insulin properly and are relatively well controlled they should be able to lead long healthy lives.

*adapted from WebMD