GIGANTISM

What is Gigantism?

Gigantism is a rare condition that causes abnormal growth in children. This

change is most notable in terms of height, but girth is affected as well. It occurs when
your child’s pituitary gland makes too much growth hormone, which is also
known as somatotropin.

A pituitary gland tumor is almost always the cause of gigantism. The pea-

sized pituitary gland is located at the base of your brain. It makes hormones
that control many functions in your body. Some tasks managed by the gland
include:

temperature control
sexual development
growth
metabolism
urine production

When a tumor grows on the pituitary gland, the gland makes far more growth
hormone than the body needs.

There are other less common causes of gigantism:

McCune-Albright syndrome causes abnormal growth in bone tissue,

patches of light-brown skin, and gland abnormalities.

Carney complex is an inherited condition that causes noncancerous

tumors on connective tissue, cancerous or noncancerous endocrine
tumors, and spots of darker skin.
 Multiple endocrine neoplasia type 1 (MEN1) is an inherited disorder that
causes tumors in the pituitary gland, pancreas, or parathyroid glands.

Neurofibromatosis is an inherited disorder that causes tumors in the

nervous system.

Recognizing the signs of Gigantism

If your child has gigantism, you may notice that they’re much larger than
other children of the same age. Also, some parts of their body may be larger
in proportion to other parts. Common symptoms include:

very large hands and feet

thick toes and fingers
a prominent jaw and forehead
coarse facial features

Children with gigantism may also have flat noses and large heads, lips,

or tongues. The symptoms your child has may depend on the size of the
pituitary gland tumor. As the tumor grows, it may press on nerves in the brain.
Many people experience headaches, vision problems, or nausea from tumors
in this area. Other symptoms of gigantism may include:

excessive sweating
severe or recurrent headaches
weakness
insomnia and other sleep disorders
delayed puberty in both boys and girls
irregular menstrual periods in girls
deafness
How is Gigantism diagnosed?

If your child’s doctor suspects gigantism, they may recommend a blood

test to measure levels of growth hormones and insulin-like growth factor 1 (IGF-1),
which is a hormone produced by the liver. The doctor also may recommend an oral
glucose tolerance test. During an oral glucose tolerance test, your child will drink a
special beverage containing glucose, a type of sugar. Blood samples will be taken
before and after your child drinks the beverage.

In a normal body, growth hormone levels will drop after eating or drinking
glucose. If your child’s levels remain the same, it means their body is producing too
much growth hormone.

If the blood tests indicate gigantism, your child will need an MRI scan of the
pituitary gland. Doctors use this scan to find the tumor and see its size and position.

How is Gigantism treated?

Treatments for gigantism aim to stop or slow your child’s production of growth
hormones.

Surgery

Removing the tumor is the preferred treatment for gigantism if it’s the underlying cause.

The surgeon will reach the tumor by making an incision in your child’s nose.
Microscopes or small cameras may be used to help the surgeon see the tumor in the
gland. In most cases, your child should be able to return home from the hospital the day
after the surgery.
Medication

In some cases, surgery may not be an option. For example, if there’s a high risk
of injury to a critical blood vessel or nerve. Your child’s doctor may recommend
medication if surgery is not an option. This treatment is meant to either shrink the tumor
or stop the production of excess growth hormone.

Your doctor may use the drugs octreotide or lanreotide to prevent the growth
hormone’s release. These drugs mimic another hormone that stops growth hormone
production. They’re usually given as an injection about once a month.

Bromocriptine and Cabergoline are drugs that can be used to lower growth

hormone levels. These are typically given in pill form. They may be used with octreotide.
Octreotide is a synthetic hormone that, when injected, can also lower the levels of
growth hormones and IGF-1.

In situations where these drugs are not helpful, daily shots of pegvisomant
might be used as well. Pegvisomant is a drug that blocks the effects of growth
hormones. This lowers the levels of IGF-1 in your child’s body.

Gamma Knife Radiosurgery

Gamma knife radiosurgery is an option if your child’s doctor believes that a

traditional surgery isn’t possible. The “gamma knife” is a collection of highly focused
radiation beams. These beams don’t harm the surrounding tissue, but they’re able to
deliver a powerful dose of radiation at the point where they combine and hit the tumor.
This dose is enough to destroy the tumor.

Gamma knife treatment takes months to years to be fully effective and to return
the levels of growth hormone to normal. It’s performed on an outpatient basis
under general anesthetic.
 DWARFISM

What is Dwarfism?

Dwarfism is a medical or genetic condition that causes someone to be

considerably shorter than an average-sized man or woman. The average height of an
adult with dwarfism is 4 feet, but dwarfism could apply to an adult who is 4’10” or
shorter.

The term “short stature” is often preferred over “dwarfism” or “dwarf.” The term
“little person” or “little people” is often used, too. One of the largest advocacy groups for
people with dwarfism is the Little People of America (LPA). “Midget” isn’t an acceptable
label. Be mindful of the words or label a person with dwarfism uses to describe
themselves. Also be sensitive to the challenges or prejudice they may face in everyday
life.

Types of Dwarfism

Though there are many different causes of dwarfism, there are two main types
of the condition: proportionate and disproportionate.

Proportionate Dwarfism

When the head, trunk, and limbs are all proportionate to each other, but much
smaller than those of an average-sized person, the condition is known as proportionate
dwarfism.

This type of dwarfism is often the result of a hormone deficiency. It can often be
treated with hormone injections while a child is still growing. As a result, someone born
with proportionate dwarfism may be able to reach an average height or get close to it.
Disproportionate dwarfism

This is the most common kind of dwarfism. As the name suggests, it’s

characterized by having body parts that are disproportionate to each other. For
example, a genetic condition called achondroplasia results in arms and legs that are
significantly shorter than those of a person of average size, but the trunk is like that of
someone unaffected by dwarfism. In some cases, the head of a person with
disproportionate dwarfism may be slightly larger than that of a person without dwarfism.

What Causes Dwarfism?

Researchers believe there are more than 300 conditions that cause dwarfism.

Most causes are genetic. The most common causes include:

Achondroplasia

Though achondroplasia is a genetic condition, four out of five people who have it

also have two parents who are average sized. If you have achondroplasia, you have
one mutated gene associated with the condition and one unaffected version of that
gene. This is the most common cause of dwarfism.

Turner syndrome

This condition affects only females. Instead of inheriting two fully functioning X

chromosomes from your parents, you inherit one X chromosome and are missing a
second, or at least part of a second, X chromosome. Males, by comparison, have an X
chromosome and a Y chromosome.
Growth hormone deficiency

The reasons for growth hormone deficiency aren’t always clear. Sometimes it’s

tied to a genetic mutation. In many cases, the reasons for growth hormone deficiency
are never diagnosed.

Hypothyroidism

An underactive thyroid, especially if it develops at a young age, can lead to many

health problems, including limited growth. Other complications include low energy,
cognitive problems, and puffy facial features. A newborn’s thyroid health should be
checked as a matter of routine screenings. If your baby didn’t have their thyroid
checked, discuss it with your pediatrician.

Intrauterine growth retardation

This condition develops while the baby is still in the mother’s womb. The

pregnancy may go to full term, but the baby is usually much smaller than average. The
result is typically proportional dwarfism.

Genetics and other Risk factors

Dwarfism is usually the result of a genetic mutation. But having a gene or genes
responsible for dwarfism can occur in a couple of ways.

In some cases, it can happen spontaneously. You may not be born with mutated
genes inherited from a parent. Instead, a mutation of your genes happens on its own
usually without a cause doctors can discover.
 Inherited genetic disorders can take two forms. One is recessive, which means
you inherit two mutated genes (one from each parent) to have the condition. The other
is dominant. You only need one mutated gene from either parent to have the disorder.

Other risk factors for dwarfism include a hormone deficiency or malnutrition.

There usually aren’t any risk factors for a hormone deficiency, but it can often be
successfully treated. Serious malnutrition, which leads to weak bones and muscles, can
also be overcome in many cases with a healthy, more nutrient-rich diet.

How is Dwarfism Diagnosed?

At birth, sometimes the appearance of a newborn may be enough to make a

diagnosis of dwarfism. As part of baby wellness exams, your child should be measured
and weighed to see how they compare to the population averages for a child their age.
Consistently measuring in the lowest quartiles on the standard growth chart is another
sign a pediatrician can use to diagnose dwarfism.

Making a tentative prenatal diagnosis while the baby is still in the womb can be
done with an ultrasound. If the baby’s appearance suggests dwarfism, or if the parents
know they carry a gene for dwarfism, a doctor may recommend amniocentesis. This is a
lab test of amniotic fluid from the womb.

Genetic testing may be helpful in some cases. This is particularly true when
distinguishing one potential cause of dwarfism from another. A blood test to check for
growth hormone levels may also help confirm a diagnosis of dwarfism caused by
hormone deficiency.
Possible Complications

Dwarfism is often accompanied by health complications. These range from leg

and back problems to brain and lung function issues.

The most common complications associated with disproportionate dwarfism are:

bowed legs
arthritis
progressive hunching of the back
narrowed channel in the lower spine, resulting in pressure on the spinal cord
(spinal stenosis)
spinal pressure at the base of the skull
excess brain fluid (hydrocephalus
sleep apnea
delays in motor skills development as a baby
weight gain that can place more strain on the spine and joints

Pregnancy in those with dwarfism can present its own set of potential complications,
including respiratory problems. A cesarean delivery is usually necessary, because the
size of the pelvic region won’t allow for a vaginal delivery.

For some people with proportionate dwarfism, poor development of the organs can
lead to significant health problems.

Condition Management

Dwarfism, regardless of the cause, can’t be cured or “corrected.” However, there

are certain therapies that may help reduce the risk of complications.
Hormone Therapy

For people with growth hormone deficiency, injections of synthetic human growth
hormone may be helpful. Children receiving this treatment don’t always reach an
average height, but they can get close.

The treatment includes daily injections when a child is young, though injections
may continue into a person’s 20s. This may be done if there are concerns about full
adult maturation and sufficient muscle and fat.

Girls with Turner’s syndrome need estrogen therapy and other hormones to help

trigger puberty and appropriate female development. Estrogen therapy may be
necessary until a woman reaches the age of menopause.

Surgical options

For others with dwarfism, surgical treatments may be necessary and helpful to
living a longer, healthier life.

Surgical treatments include those that can help:

correct the direction of bone growth

stabilize the spine
increase the channel in the vertebrae surrounding the spinal cord to relieve
pressure on the spinal cord

Another surgical procedure for people with excess fluid around the brain is to
place a type of tube, called a shunt, in the brain. This can relieve some of that fluid and
reduce pressure on the brain.
Physical Therapy and Orthotics

Physical therapy and orthotics are noninvasive solutions to some complications

of dwarfism. Physical therapy is often prescribed after limb or back surgery to help you
regain or improve your range of motion and strength. Physical therapy may also be
advised if dwarfism is affecting the way you walk or is causing you pain that doesn’t
require surgery.

Orthotics are custom-made devices that fit into your shoes to help improve your
foot health and function. If dwarfism is affecting your balance, how you walk, or other
aspects of foot function, talk with a podiatrist about how orthotics may help you.

Is Dwarfism Hereditary?

When it comes to having a family, there are some important considerations.

When both parents have dwarfism, the odds of a child being born with dwarfism are
higher than in the general population.

If you have achondroplasia, for example, you have one dwarfism gene and one
unaffected gene. This means when both parents have achondroplasia, there is a 25
percent chance their child will inherit the unaffected gene and grow to at least an
average height.

There is a 50 percent chance of the child inheriting one of each type of gene, but
a 25 percent chance that the baby will have two dwarfism genes. Babies born with what
is called a “double-dominant syndrome” often die at birth or soon afterward.
 CRETINISM

Congenital hypothyroidism, previously known as cretinism, is a severe

deficiency of thyroid hormone in newborns. It causes impaired neurological function,
stunted growth, and physical deformities. The condition may occur because of a
problem with the baby’s thyroid gland, or a lack of iodine in the mother’s body during
pregnancy. A baby’s body needs iodine to make thyroid hormones. These hormones
are essential for healthy growth, brain, and nervous system development.

Between 1 in 2,000 and 1 in 4,000 babies are born with congenital

hypothyroidism. The introduction of iodized salt in the early 20 th century made
congenital hypothyroidism very rare in the United States and the rest of the Western
world. However, severe iodine deficiency is still common in developing nations.

Symptoms

Signs of cretinism or congenital hypothyroidism in a newborn include:

lack of weight gain

stunted growth
fatigue, lethargy
poor feeding
thickened facial features
abnormal bone growth
mental retardation
very little crying
excessive sleep
constipation
yellowing of the skin and whites of the eyes
floppiness, low muscle tone
 hoarse voice
unusually large tongue
swelling near the navel
cool, dry skin
pale skin
swelling of the skin (myxedema)
swelling in the neck from an enlarged thyroid gland (goiter)

Causes

Congenital hypothyroidism in newborns can be caused by:

a missing, poorly formed, or abnormally small thyroid gland

a genetic defect that affects thyroid hormone production
too little iodine in the mother’s diet during pregnancy
radioactive iodine or antithyroid treatment for thyroid cancer during pregnancy
use of medicines that disrupt thyroid hormone production such as antithyroid
drugs, sulfonamides, or lithium during pregnancy

Iodine deficiency is no longer considered a health risk in the United States due to
the introduction of iodized salt. However, it’s still the most common preventable
cause of impaired neurological function in the world. Because our bodies don’t make
iodine, we need to get it from food. Iodine gets into food through soil. In some parts of
the world, the soil is lacking in iodine.

Treatment options

Newborns are routinely screened for thyroid hormone levels. The test involves
taking a small blood sample from the baby’s heel. A laboratory checks the baby’s blood
levels of thyroid hormone (T4) and thyroid-stimulating hormone (TSH).
 Doctors called pediatric endocrinologists treat congenital hypothyroidism. The
main treatment is to give the baby thyroid hormone (levothyroxine). This condition must
be treated within the first four weeks after birth or the intellectual disability may be
permanent. Thyroid hormone comes in a pill that parents can crush up into their baby’s
breast milk, formula, or water. Parents need to be cautious about using some formulas.
Soy protein and concentrated iron formulas can interfere with the absorption of thyroid
hormone.

Once babies are on thyroid hormone medication, they will need to have blood
tests every few months. These tests will check that their TSH and T4 levels are within a
normal range.

Prevention

Congenital hypothyroidism is typically seen in developing countries where iodine

deficiency is common. Adults can prevent iodine deficiency by getting the Institute of
Medicine’s recommended dietary allowance (RDA) of 150 micrograms of iodine per day.
One teaspoon of iodized salt contains about 400 micrograms of iodine.

Because an iodine deficiency in pregnancy can be dangerous to the growing

baby, pregnant women are advised to get 220 micrograms of iodine daily.
The American Thyroid Association recommends that all women who are pregnant or
breastfeeding take a prenatal vitamin containing at least 150 micrograms of iodine each
day.

Associated Conditions and Complications

Children who are born with a severely underactive thyroid gland can develop
intellectual disability if the condition isn’t treated quickly. A child’s IQ can drop several
points for every few months that treatment is delayed. Growth and bone strength can
also be affected.

Other complications of congenital hypothyroidism include:

an abnormal walk
muscle spasticity
an inability to speak (mutism)
autistic behavior
vision and hearing problems
problems with memory and attention

Even with treatment, some children with congenital hypothyroidism may be

slower to learn than other kids their age.
 DIABETES INSIPIDUS

Diabetes insipidus is a rare condition that causes your body to make a lot
of urine that is "insipid," or colorless and odorless. Most people pee out 1 to 2 quarts a day.
People with diabetes insipidus can pass between 3 and 20 quarts a day. It's also called
central DI, pituitary DI, hypothalamic DI, neurohypophyseal DI, or neurogenic DI.

Symptoms of Diabetes Insipidus

Symptoms include:

Severe thirst
Peeing more than 3 liters a day
Getting up to go a lot at night
Peeing during sleep (bed-wetting)
Pale, colorless urine
Low measured concentration of urine
Preference for cold drinks
Dehydration
Weakness
Muscle pains
Crankiness

With dehydration, you might notice:

Extreme thirst: often drinking more than 1 gallon of liquid per day
Fatigue
Feeling sluggish
Dizziness
Confusion
Nausea
Loss of consciousness

 
Symptoms in Infants and Children

Many of the symptoms are similar in younger people. In infants, watch for:

Crankiness
Slow growth
Poor feeding
Weight loss
Fever
Vomiting

In children, signs include:

Drinking a lot of water

Peeing often, sometimes every hour
New bed-wetting or waking during the night to pee
Dehydration
Low energy

Diabetes Insipidus Causes

Your body makes a hormone called vasopressin in a part of your brain called

the hypothalamus. It’s stored in your pituitary gland. Vasopressin tells your kidneys to
hold on to water, which makes your urine more concentrated. (Vasopressin is also
called antidiuretic hormone or ADH.)

When you’re thirsty or a little dehydrated, your vasopressin levels go up. Your
kidneys absorb more water and put out concentrated urine. If you’ve had enough to
drink, vasopressin levels fall, and what comes out is clear and diluted.

When your body doesn’t make enough vasopressin, the condition is

called central diabetes insipidus. Anyone can get central DI, but it's not common. Only
about 1 in every 25,000 people gets it. If you make enough but your kidneys don’t
respond to it the way they should, you have nephrogenic diabetes insipidus. In either
form, the result is the same. Your kidneys can't keep water, so even if you’re
dehydrated, they'll put out a lot of pale urine.
Diabetes Insipidus Risk Factors

Changes in the genes that you inherit from your parents can make you more
likely to get diabetes insipidus. This happens in 1% to 2% of cases.

Types of Diabetes Insipidus

 Central Diabetes Insipidus. 

You get this when damage to your hypothalamus or pituitary gland affects
how your body makes or puts out vasopressin. Your kidneys remove too much
fluid from your body, and you pee more. This damage can result from:

A tumor

A head injury

A blocked or bulging artery (aneurysm)

Diseases such as Langerhans cell histiocytosis

Infection

Inflammation

Surgery

 Nephrogenic Diabetes Insipidus. 

You get this when your kidneys don’t respond to vasopressin and take too
much fluid from your bloodstream. Doctors don’t always know why it happens,
but some causes include:

A blocked urinary tract

Chronic kidney disease

High levels of calcium in your blood

Low levels of potassium in your blood

Some medications, like lithium

  Dipsogenic Diabetes Insipidus. 

This type, also known as primary polydipsia, happens when your body has
trouble controlling thirst. When you drink, the liquid lowers the amount of
vasopressin that your body makes, while making you pee more. Causes include
damage to your hypothalamus or pituitary glands from:

A tumor

A head injury

Infection

Inflammation

Surgery

 Some medications or mental health problems could make you more likely to get
dipsogenic diabetes insipidus.

 Gestational Diabetes Insipidus. 

You get this type only during pregnancy. Sometimes, a

woman’s placenta -- the organ that gives oxygen and nutrients to your baby
makes an enzyme that breaks down vasopressin. Other pregnant women make
more prostaglandin, a hormone-like chemical that makes their kidneys less
sensitive to vasopressin. Most cases of gestational diabetes insipidus are mild
and don’t cause clear symptoms. The condition usually goes away after birth, but
it might come back in another pregnancy.

How Is Diabetes Insipidus Diagnosed?

Your doctor will do a physical exam. A checkup may not show any signs of
central DI, except maybe an enlarged bladder or symptoms of dehydration.

They’ll ask questions about your health history, including your family’s health.
You might get a series of tests that include:

Urinalysis 

You’ll give a sample of your pee, and your doctor will send it to a lab to
see whether it’s dilute or concentrated. They can also check for glucose, which
 can help them decide if you have diabetes insipidus or diabetes mellitus. You
might need to collect your pee over a 24-hour period to see how much you’re
putting out.

Blood test

This will measure the electrolytes and glucose in your blood. This lets your
doctor know if you have diabetes mellitus or diabetes insipidus. It may help them
figure out which type.

Fluid deprivation test

This measures the changes in your body weight, blood sodium, and urine
concentration after you don’t drink anything for a while. There are two types:

Short-form fluid deprivation test

 You stop drinking for a short time. You collect a sample and take it
back to your doctor, who sends it to a lab.

Formal fluid deprivation test 

You’ll have this done in a hospital so doctors can make sure you
don’t get dehydrated. You’ll be weighed and give a sample every hour or
two until:

 Your blood pressure drops too low or you have a rapid heartbeat

when you stand

 You lose 5% or more of your starting body weight

 Your urine concentration goes up a little bit over two or three

measurements

MRI 

This test takes detailed pictures of your internal organs and soft tissues.
The doctor uses it to see if there’s a problem with your hypothalamus or pituitary
gland.

Genetic screening 

Your doctor may suggest this test if your family members have had
problems with making too much urine.

 
Complications of Diabetes Insipidus

Diabetes insipidus that isn’t under control can make you more likely to have
complications like:

Dehydration.

Diabetes insipidus makes it hard for your body to hold on to water. It’s
easy to get dehydrated.

Electrolyte imbalance. 

Electrolytes are minerals in your body with a tiny electric charge. When

you lose too much water, your electrolyte levels can go up. This might cause:

A headache

Feeling tired all the time (fatigue)

Irritability

Muscle pain

Less sleep. 

Diabetes insipidus can lead to nocturia, a medical name for waking up in

the night to pee. The result: a less restful night.

Diabetes Insipidus Treatment

First, your doctor will tell you to drink plenty of fluids. That will replace the
constant loss of water. Other treatments depend on which type you have:

Central Diabetes Insipidus. 

You’ll take medications like desmopressin (DDAVP) or vasopressin
(Pitressin). Desmopressin controls urine output, maintains fluid balance, and
prevents dehydration. You take it two or three times a day. It usually comes as a
nasal spray, tablets, or injections. There are also treatments to help these drugs
work better.

Nephrogenic diabetes insipidus can be harder to treat.

If it’s caused by a drug, stopping the medicine helps. Other medicines may
ease symptoms. These include indomethacin (Indocin) and diuretics
like amiloride (Moduretic 5-50) or hydrochlorothiazide (Microzide). Though
diuretics typically make you pee more, in this case, they help you make less
urine. Sometimes, this condition goes away if you treat the cause.

Dipsogenic Diabetes Insipidus. 

There’s no treatment for this condition. But a few things can ease
symptoms. Suck on ice chips or sour candy to help moisten your mouth,
boost saliva flow, and lower your desire to drink. If you wake up to pee several
times a night, a small dose of desmopressin at bedtime might help.

Gestational Diabetes Insipidus. 

You can take desmopressin while you’re pregnant. Your problems should
go away after you have the baby.