Congenital Adrenal Hyperplasia (CAH) Tips

As the name suggests, congenital nephrotic syndrome affects the kidneys of newborn babies. Though congenital means the disease must be present from birth, babies who develop nephrotic syndrome in the first three months are also said to suffer from this condition. This is a rare genetic disorder that is passed down from parents to their children. Boys are at a higher risk of suffering from this disorder than girls. The congenital nephrotic syndrome causes the kidneys to leak large amounts of protein into the baby’s urine. This can lead to swelling of the body tissues and a weakened immune system.

Some of the common symptoms of this disease include

1. Low birth weight
2. Lack of appetite
3. Swelling of the body
4. Foamy or frothy urine
5. Lowered urine production
6. Cough

Pregnant women are usually screened for this condition before the baby is born. The doctor will be looking for a placenta that is larger than normal in ultrasound and high levels of alpha fetoprotein in amniotic fluid samples. If found; the doctor might ask for a genetic test to confirm the diagnosis.

Once the baby is born, he or she will show signs of fluid retention as the body begins to swell. Other signs your doctor will look out for are high blood pressure, signs of malnutrition and abnormal sounds from the heart and lungs. A urine analysis will also show high levels of protein in the urine through the overall protein levels in the body may be low. The doctor may also ask for a kidney biopsy in some cases to confirm the diagnosis.

Aggressive forms of treatment in the early stages of this disease can help control it. This may include antibiotics, blood pressure medication, ACE inhibitors and angiotensin receptor blockers to reduce protein leakage and diuretics to manage excess fluid build-up. Nonsteroidal anti-inflammatory drugs may also help reduce the amount of protein leaking into the urine. In addition, the doctor may advise you to limit fluid the baby’s fluid intake to control the swelling. As a last resort, the kidneys may need to be removed to prevent protein loss. This will be followed by dialysis or a kidney transplant.

If left unchecked, this disorder can lead to a number of complications including acute kidney failure, blood clots, infections and diseases related to malnutrition. It can also lead to the death of a baby in the first year of catching the infection or before his or her fifth birthday.

Adrenal insufficiency is a condition in which the adrenal glands of the patient do not produce sufficient amount of steroid hormones. It mostly affects the production of cortisol but in some cases, the production of aldosterone may also be reduced. At times, dysfunction of the hypothalamus or the pituitary gland can also cause adrenal insufficiency because the hormones produced by these two glands help in regulating the functions performed by hormones secreted by the adrenal gland. These steroid hormones play an important role in bodily functions such as metabolism, immunity development, salt/water balance, sexual development and others. So, when these hormones are not produced in adequate amount, the individual experiences specific problems and thus, treatment for adrenal insufficiency becomes necessary.

Causes: Adrenal insufficiency can be caused by many reasons. Sudden withdrawal of long-term corticosteroid therapy, adrenoleukodystrophy, stress in people who already suffer from chronic adrenal insufficiency, craniopharyngioma, and Waterhouse-Friderichsen syndrome are responsible for adrenal insufficiency. In some cases, Addison's disease and congenital adrenal hyperplasia also surface in the form of adrenal insufficiency.

Adrenal insufficiency can be categorized into three sections based on the ways through which they affect the adrenal gland and cause the low production of cortisol and other steroid hormones.

1. The first is adrenal dysgenesis in which the gland has not formed properly in the patient.
2. The second is impaired steroidogenesis in which the gland is not able to produce cortisol due to biochemical inefficiency
3. The third is adrenal destruction in which the gland gets damaged because of some disease.

Symptoms:

The symptoms of adrenal insufficiency manifest in the form of dehydration, weight loss, weakness, low blood pressure, muscle pain, hypoglycemia (low blood sugar) vomiting, diarrhea, craving for salt or salty food, change in mood, kidney failure, and shock. These symptoms are a result of hormonal deficiency caused by adrenal insufficiency and if not taken seriously, they can affect the patient seriously.

Diagnosis and Treatment: Adrenal insufficiency can be diagnosed with the help of adrenocorticotropic hormone (ACTH) stimulation test, which examines the functioning of the adrenal gland. A CT scan of the adrenal gland can also detect structural abnormalities in it. An MRI scan of the pituitary gland is also recommended in some cases as this gland also plays a secondary role in adrenal insufficiency. Adrenal insufficiency can be treated by giving the patient hormonal therapy. The hormones are given in the form of medications. Since cortisol inadequacy is the primary effect of adrenal insufficiency, it is supplemented with the help of medicines such as hydrocortisone (Cortef), prednisone (Deltasone), prednisolone (Delta-Cortef), methylprednisolone (Medrol) and dexamethasone (Decadron).

In cases of severe adrenal insufficiency, the patient is given intravenous fluids and intravenous steroids, which can give relief from the discomforting symptoms. Where the patient is found to be suffering from mineralocorticoid deficiency (low aldosterone), fludrocortisone acetate is given to balance the sodium and potassium imbalance. It should be remembered that the adrenal gland performs vital functions in the body and if it is deficient, then the body is bound to suffer. So, the patient should go for immediate diagnosis and follow the treatment therapy prescribed by the doctor. In case you have a concern or query you can always consult an expert & get answers to your questions!

What is congenital hypothyroidism?
Newborn babies who are unable to make enough thyroid hormone have congenital hypothyroidism, meaning they are born with an underactive or absent thyroid gland.  If the condition is not found and treated, children can have mental retardation and growth failure. But the good news is that early diagnosis and proper treatment can prevent these problems. In most cases, the condition is permanent and your child will need lifelong treatment. 

What causes congenital hypothyroidism?
 The most common causes are

1. An underdeveloped thyroid gland
2. A thyroid gland that’s not located where it should be (in the neck below the voice box or larynx)  
3. A missing thyroid gland

 Other possible causes include

1. Defective production of thyroid hormone (an inherited condition)
2. Problems with the pituitary gland (located at the base of the brain), which tells the thyroid to make thyroid hormone
3. Less commonly, a mother’s thyroid disease or medicines taken during pregnancy can cause congenital hypothyroidism.

What are the signs and symptoms of congenital hypothyroidism?

Many babies with congenital hypothyroidism appear normal at birth or for several months after birth.  But others may have these signs and symptoms:

• Jaundice (yellowing of the skin and eyes)
• Constipation
• Poor muscle tone
• Sluggishness
• A hoarse cry
• They might also have
• Feeding problems
• A thick, large tongue
• A puffy-looking face
• A swollen abdomen, sometimes with “outpouching” of the belly button
• Large soft spots of the skull

Thyroid hormone deficiency can also occur in older babies or young children, even if test results at birth were normal.

Treatment
Early diagnosis is very important. Most of the effects of hypothyroidism are easy to reverse. For this reason, doctors always ask to get screening for hypothyroidism of your newborn.

Thyroxine is usually given to treat hypothyroidism. Once the child starts taking this medicine, blood tests are regularly done to make sure thyroid hormone levels are in a normal range.

When to Contact a Medical Professional
Call your health care provider if:

• You feel your infant shows signs or symptoms of hypothyroidism
• You are pregnant and have been exposed to antithyroid drugs or procedures

Prevention
If a pregnant woman takes radioactive iodine for thyroid cancer, the thyroid gland may be destroyed in the developing fetus. Infants whose mothers have taken such medicines should be observed carefully after birth for signs of hypothyroidism. Also, pregnant women should not avoid iodine-supplemented salt. If you wish to discuss about any specific problem, you can consult an endocrinologist.

If you are experiencing pain in the muscles and joints, an enhanced craving for salt, symptoms of low glucose in the blood or low blood pressure, you could be suffering from adrenal insufficiency (AI). The outer layer or cortex of our adrenal gland produces three forms of steroid hormones. In adrenal insufficiency, the cortex fails to produce enough steroid hormones. Some people do not know that they have been affected by adrenal insufficiency until they experience a sudden worsening of symptoms. This is called an adrenal crisis.

Causes
The different types of adrenal insufficiencies occur because of different reasons. Primary AI is commonly caused by autoimmune diseases in which our body’s defence system destroys the body’s tissues. Bleeding in glands, genetic diseases and infections are other likely causes.

Secondary AI occurs because of problems with the pituitary gland. The pituitary gland produces a hormone named adrenocorticotrophic hormone (ACTH) because of which the adrenal glands produce cortisol. In the case of secondary AI, the pituitary glands stop sending ACTH to the adrenal glands, and cortisol is hence not produced. This may occur by taking certain prescribed medicines.

Diagnosis
Patients' medical symptoms and medical history are observed. The blood levels of cortisol, sodium, potassium and glucose are checked for the detection of AI. The adrenal glands and the pituitary gland are observed by imaging tests. X-rays, ultrasound, and CT and MRI scans may be required.

Treatment
The treatment of adrenal insufficiency aims at ensuring proper levels of hormones in the body. You may require regular replacement of hormones for life. You have to take glucocorticoids for replacing the cortisol which your body does not provide any more. Mineralocorticoids should be taken when the body does not produce aldosterone. Extra glucocorticoids may be required during times of intense stress such as surgery or serious health conditions.

1. Glucocorticoid helps the body in coping with stress, injury and illness. It helps in the regulation of blood glucose levels and blood pressure levels. It performs the function of cortisol.
2. Mineralocorticoid helps in maintaining a proper balance of water and salt in our body. This is actually carried out by aldosterone.
3. Adrenal androgens, which are weak male sex hormones, present in both men and women, help in the regulation of pubic and armpit hair growth in women.

If you experience any symptoms of adrenal insufficiency, it is recommended that you visit a doctor immediately. Early diagnosis will enable early treatment, which is beneficial for you.
 

A deficiency of the adrenal hormones is also known as Addison’s disease. This is a life-threatening disease that can affect men and women of all ages. Adrenal insufficiency is marked by chronic fatigue, weight loss, low blood sugar and blood pressure levels, depression, muscle pain and loss of body hair. When these symptoms occur together, they should never be ignored. Early diagnosis is key to the treatment of this condition.

A doctor will use a combination of tests to determine a diagnosis of Addison’s disease. This includes a blood test to measure levels of minerals and antibodies associated with this disease in the body, an ACTH stimulation test, insulin-induced hypoglycemia test and imaging tests. In addition, the doctor will also ask for a detailed family medical history.

Treatment for Addison’s disease is focused on balancing the hormone levels. Thus, it involves the use of hormone replacement drugs to perform the functions of the missing hormones. This type of treatment could include:

1. Oral corticosteroids
In this case, an oral medication may be prescribed to replace the cortisol and aldosterone. This is usually the first form of treatment.

2. Corticosteroid injections
In some cases, nausea caused by the disease is so bad that the patient cannot take oral medication. In such cases, the hormone replacement drugs may be given via injections.

The dosage of these replacement hormones may be changed according to the patient’s overall health and mental state. Fr example, the doctor may decide to increase the dosage if the patient is recovering from an infection or surgery or if he or she is under stress. It is important for the patient not to change the dosage of these medications without the doctor’s approval. Missing even one day’s medication can be harmful to the patient.

Hence, it is important to always have extra medication at hand. The patient should ideally keep a small stock of medication at work, in their bag and in their car.

3. Lifestyle changes
Making a few lifestyle changes can also help. Processed foods, caffeine, sugar and alcohol should all be avoided. Refined vegetable oil should also be avoided as it can have an inflammatory effect. This may be replaced by healthy fats such as coconut oil and olive oil. Include high fiber foods such as starchy vegetables, chia seeds, berries etc. in the patient’s diet. Probiotic foods and foods rich in omega 3 fatty acids are also beneficial.

Cancer can affect even small glands like the adrenal glands. Adrenal glands are responsible for the production of hormones like cortisol and aldosterone. These glands are located above the kidneys and have two parts; the cortex and the medulla. Adrenal cancer generally affects the cortex of the adrenal glands. This type of cancerous tumour is rare and can be difficult to diagnose.

Most adrenal cancer symptoms are triggered by excessive production of estrogen and androgen. Symptoms can also be caused by the pressure put on other organs by the tumour. Adrenal cancer symptoms are most easily noticeable in children as this is the stage where the body is changing and developing. Some of these symptoms are:

1. Facial hair growth
2. Excessive pubic and underarm hair
3. An enlarged penis or clitoris
4. Early onset of puberty in girls
5. Development of enlarged breasts in boys

Symptoms of adrenal cancer in adults include:

1. Excessive weight gain in the abdomen and above the collar bone
2. High blood pressure
3. Irregular menstruation
4. Easy bruising
5. Depression
6. Frequent urge to urinate
7. Muscle cramps

Additionally, men with adrenal cancer that causes excessive estrogen production may notice an enlargement of breast tissue and tenderness in the area. Women suffering from excessive androgen production triggered by adrenal cancer may notice their voice deepening and facial hair growth. In most cases, adrenal cancer symptoms in women do not appear until the tumour presses on other organs. This includes symptoms like pain around the tumor, a feeling of fullness in the abdomen and difficulty eating because of this feeling.

The cause of adrenal cancer has not yet been determined, but conditions such as Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and multiple endocrine neoplasia can increase a person’s risk of suffering from this disease. A thorough physical examination and a detailed medical history is required to diagnose this disease. The doctor will also need a blood test and urine test. Additional tests that may be required include:

1. Biopsy of the tumor
2. CT scan
3. MRI scan
4. PET scan
5. Adrenal angiography

Adrenal cancer can be cured if diagnosed in its early stages. There are three types of treatment for adrenal cancer; surgery to remove the adrenal gland, chemotherapy and radiation. However, adrenal cancer can recur and hence it is important to schedule and maintain regular check-ups with your doctor.

Cancer can affect even small glands like the adrenal glands. Adrenal glands are responsible for the production of hormones like cortisol and aldosterone. These glands are located above the kidneys and have two parts; the cortex and the medulla. Adrenal cancer generally affects the cortex of the adrenal glands. This type of cancerous tumour is rare and can be difficult to diagnose.

Most adrenal cancer symptoms are triggered by an excessive production of estrogen and androgen. Symptoms can also be caused by the pressure put on other organs by the tumour. Adrenal cancer symptoms are most easily noticeable in children as this is the stage where the body is changing and developing. Some of these symptoms are:

1. Facial hair growth
2. Excessive pubic and underarm hair
3. An enlarged penis or clitoris
4. Early onset of puberty in girls
5. Development of enlarged breasts in boys

Symptoms of adrenal cancer in adults includes:

1. Excessive weight gain in the abdomen and above the collar bone
2. High blood pressure
3. Irregular menstruation
4. Easy bruising
5. Depression
6. Frequent urge to urinate
7. Muscle cramps

Additionally, men with adrenal cancer that causes excessive estrogen production may notice an enlargement of breast tissue and tenderness in the area. Women suffering from excessive androgen production triggered by adrenal cancer may notice their voice deepening and facial hair growth. In most cases, adrenal cancer symptoms in women do not appear until the tumour presses on other organs. This includes symptoms like pain around the tumor, a feeling of fullness in the abdomen and difficulty eating because of this feeling.

The cause of adrenal cancer has not yet been determined, but conditions such as Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and multiple endocrine neoplasia can increase a person’s risk of suffering from this disease. A thorough physical examination and a detailed medical history is required to diagnose this disease. The doctor will also need a blood test and urine test. Additional tests that may be required include:

1. Biopsy of the tumor
2. CT scan
3. MRI scan
4. PET scan
5. Adrenal angiography

Adrenal cancer can be cured if diagnosed in its early stages. There are three types of treatment for adrenal cancer; surgery to remove the adrenal gland, chemotherapy and radiation. However, adrenal cancer can recur and hence it is important to schedule and maintain regular check-ups with a doctor.

Adrenal gland is an endocrinal gland located above the kidney which produces hormones that regulate blood sugar, stress and sexual functions. Any problems in the pituitary gland can affect the adrenal gland as the pituitary gland regulates all the endocrine glands.

Here are the different types of adrenal gland disorders-

1. Cushing's disease - This disorder occurs when the adrenal glands produce too much cortisol in the body. Cortisol is a hormone that adrenal glands produce when a body is exposed to stress. The causes of this disease are intake of steroids and tumors present in the pituitary gland. The symptoms are rise in blood pressure, weakness in the muscles and weak bones.
2. Adrenal cancer - Presence of cancerous cells in the adrenal cortex leads to adrenal cancer. The symptoms of this disorder are stomach cramps, blood pressure problems and irregular menstrual cycle.
3. Addison's disease - This disease occurs when the adrenal glands produce less cortisol. This disorder is linked with the immune system as the adrenal glands are attacked by it during this disorder. The symptoms of this disorder are nausea, loss of appetite, constipation and muscle pain.
4. Pheochromocytomas - These are tumors that develop in the adrenal gland which causes excessive production of a hormone called catecholamines. These hormones help in regulating blood pressure. The primary causes of this disorder are genetic factors. Common symptoms of this disorder are headaches, shortness of breath and sweating.
5. Conn's syndrome - This disorder occurs when the hormone aldosterone is produced in excess by the adrenal glands. The symptoms of this disorder are feeling excessively thirsty, muscle weakness and high blood pressure.

Adrenal gland is an endocrinal gland located above the kidney which produces hormones that regulate blood sugar, stress and sexual functions. Any problems in the pituitary gland can affect the adrenal gland as the pituitary gland regulates all the endocrine glands.

Here are the different types of adrenal gland disorders

1. Cushing's disease - This disorder occurs when the adrenal glands produce too much cortisol in the body. Cortisol is a hormone that adrenal glands produce when a body is exposed to stress. The causes of this disease are intake of steroids and tumors present in the pituitary gland. The symptoms are rise in blood pressure, weakness in the muscles and weak bones.
2. Adrenal cancer - Presence of cancerous cells in the adrenal cortex leads to adrenal cancer. The symptoms of this disorder are stomach cramps, blood pressure problems and irregular menstrual cycle.
3. Addison's disease - This disease occurs when the adrenal glands produce less cortisol. This disorder is linked with the immune system as the adrenal glands are attacked by it during this disorder. The symptoms of this disorder are nausea, loss of appetite, constipation and muscle pain.

Small endocrine glands, which are located on top of each kidney are known as Adrenal glands. These Adrenal glands produce hormones that regulate blood sugar, stress and sexual functions. Any problems in the pituitary gland can affect the Adrenal gland as the pituitary gland regulates all endocrine glands.

Different types of Adrenal gland disorders are:

1. Cushing's disease: This disorder occurs when the Adrenal glands produce too much cortisol in the body. Cortisol is a hormone that Adrenal glands produce when a body is exposed to stress. The cause of this disease is the intake of steroids and tumors present in the pituitary gland. Its symptoms are increase in blood pressure, weakness in the muscles and weak bones.
2. Adrenal cancer: Presence of cancerous cells in the Adrenal cortex leads to Adrenal cancer. Symptoms of the disorder are stomach cramps, blood pressure problems and irregular menstrual cycle.
3. Addison's disease - This disease occurs when the Adrenal glands produce less cortisol. This disorder is linked with the immune system as the Adrenal glands are attacked by it during this disorder. Symptoms of this disorder are nausea, loss of appetite, constipation and muscle pain.
4. Pheochromocytoma - It is a tumor that develops in the adrenal gland and causes excessive production of a hormone called catecholamine. These hormones help in regulating blood pressure. The primary causes of this disorder are genetic factors. Common symptoms of this disorder are headaches, shortness of breath and sweating.
5. Conn's syndrome - This disorder occurs when the hormone Aldosterone is produced in excess by the Adrenal glands. Symptoms of this disorder are feeling excessively thirsty, muscle weakness and high blood pressure.

In case you have a concern or query you can always consult an expert & get answers to your questions!