De La Salle University - Dasmarias

COLLEGE OF SCIENCE AND COMPUTER STUDIES

GENETICS
FINAL ELGA

Submitted by:

Lomeda, Rocel Mae M.

Reyes, Ma. Lealyn L.

Submitted to:
Ms. Jonnacar S. San Sebastian
 I. INTRODUCTION
A goiter (GOI-tur) is an abnormal enlargement of your thyroid gland. Your thyroid is a
butterfly-shaped gland located at the base of your neck just below your Adam's apple. Although
goiters are usually painless, a large goiter can cause a cough and make it difficult for you to
swallow or breathe.
The most common cause of goiters worldwide is a lack of iodine in the diet. In the United
States, where the use of iodized salt is common, a goiter is more often due to the over- or
underproduction of thyroid hormones or to nodules that develop in the gland itself. Treatment
depends on the size of the goiter, your symptoms and the underlying cause. Small goiters that aren't
noticeable and don't cause problems usually don't need treatment.

Symptoms
Not all goiters cause signs and symptoms. When signs and symptoms do occur they may
include:
A visible swelling at the base of your neck that may be particularly obvious when
you shave or put on makeup
A tight feeling in your throat
Coughing
Hoarseness
Difficulty swallowing
Difficulty breathing
 Causes

Your thyroid gland produces two main hormones thyroxine (T-4) and triiodothyronine
(T-3). These hormones circulate in your bloodstream and help regulate your metabolism. They
maintain the rate at which your body uses fats and carbohydrates, help control your body
temperature, influence your heart rate, and help regulate the production of proteins.

Your thyroid gland also produces calcitonin a hormone that helps regulate the amount
of calcium in your blood. Your pituitary gland and hypothalamus control the rate at which these
hormones are produced and released.

The process begins when the hypothalamus an area at the base of your brain that acts as
a thermostat for your whole system signals your pituitary gland to make a hormone known as
thyroid-stimulating hormone (TSH). Your pituitary gland also located at the base of your brain
releases a certain amount of TSH, depending on how much thyroxine and T-3 are in your blood.
Your thyroid gland, in turn, regulates its production of hormones based on the amount of TSH it
receives from the pituitary gland.

Having a goiter doesn't necessarily mean that your thyroid gland isn't working normally.
Even when it's enlarged, your thyroid may produce normal amounts of hormones. It might also,
however, produce too much or too little thyroxine and T-3.

A number of factors can cause your thyroid gland to enlarge. Among the most common are:

Iodine deficiency. Iodine, which is essential for the production of thyroid hormones, is found
primarily in seawater and in the soil in coastal areas. In the developing world, people who
live inland or at high elevations are often iodine deficient and can develop goiters when the
thyroid enlarges in an effort to obtain more iodine. The initial iodine deficiency may be made
even worse by a diet high in hormone-inhibiting foods, such as cabbage, broccoli and
cauliflower.

Although a lack of dietary iodine is the main cause of goiters in many parts of the world, this
is not often the case in countries where iodine is routinely added to table salt and other foods.

Hereditary factors - some people inherit a tendency for a thyroid to swell. Risk factors for
the development of a goiter include female sex, age over 40 years, inadequate dietary intake
 of iodine, residence in an endemic area, and a family history of goiter. In particular, it may
swell at times of life when you may make more thyroxine and T3 - for example, when you
are pregnant, or during puberty.

Graves' disease. A goiter can sometimes occur when your thyroid gland produces too much
thyroid hormone (hyperthyroidism). In Graves' disease, antibodies produced by your
immune system mistakenly attack your thyroid gland, causing it to produce excess thyroxine.
This overstimulation causes the thyroid to swell.

Hashimoto's disease. A goiter can also result from an underactive thyroid (hypothyroidism).
Like Graves' disease, Hashimoto's disease is an autoimmune disorder. But instead of causing
your thyroid to produce too much hormone, Hashimoto's damages your thyroid so that it
produces too little.

Sensing a low hormone level, your pituitary gland produces more TSH to stimulate the
thyroid, which then causes the gland to enlarge.

Multinodular goiter. In this condition, several solid or fluid-filled lumps called nodules
develop in both sides of your thyroid, resulting in overall enlargement of the gland.

Solitary thyroid nodules. In this case, a single nodule develops in one part of your thyroid
gland. Most nodules are noncancerous (benign) and don't lead to cancer.

Thyroid cancer. Thyroid cancer is far less common than benign thyroid nodules. A biopsy
of a thyroid nodule is very accurate in determining if it's cancerous.

Pregnancy. A hormone produced during pregnancy, human chorionic gonadotropin (HCG),

may cause your thyroid gland to enlarge slightly.

Inflammation. Thyroiditis is an inflammatory condition that can cause pain and swelling in
the thyroid. It may also cause an over- or underproduction of thyroxine.

Risk factors

Goiters can affect anyone. They may be present at birth and occur at any time throughout
life. Some common risk factors for goiters include:

A lack of dietary iodine. People living in areas where iodine is in short supply and who
don't have access to iodine supplements are at high risk of goiters.
 Being female. Because women are more prone to thyroid disorders, they're also more likely
to develop goiters.

Your age. Goiters are more common after age 40.

Medical history. A personal or family history of autoimmune disease increases your risk.

Pregnancy and menopause. For reasons that aren't entirely clear, thyroid problems are more
likely to occur during pregnancy and menopause.

Certain medications. Some medical treatments, including the heart drug amiodarone
(Cordarone, Pacerone, others) and the psychiatric drug lithium (Lithobid, others), increase
your risk.

Radiation exposure. Your risk increases if you've had radiation treatments to your neck or
chest area or you've been exposed to radiation in a nuclear facility, test or accident.

Complications

Small goiters that don't cause physical or cosmetic problems aren't a concern. But large goiters can
make it hard to breathe or swallow and can cause a cough and hoarseness.

Goiters that result from other conditions, such as hypothyroidism or hyperthyroidism, can be
associated with a number of symptoms, ranging from fatigue and weight gain to unintended weight
loss, irritability and trouble sleeping.

Diagnosis

Your doctor may discover an enlarged thyroid gland simply by feeling your neck and
having you swallow during a routine physical exam. In some cases, your doctor may also be able
to feel the presence of nodules.

Diagnosing a goiter may also involve:

hormone test. Blood tests can determine the amount of hormones produced by your
thyroid and pituitary glands. If your thyroid is underactive, the level of thyroid hormone
will be low. At the same time, the level of thyroid-stimulating hormone (TSH) will be
elevated because your pituitary gland tries to stimulate your thyroid gland to produce more
thyroid hormone.
 A goiter associated with an overactive thyroid usually involves a high level of thyroid
hormone in the blood and a lower than normal TSH level.

An antibody test. Some causes of a goiter involve production of abnormal antibodies. A

blood test may confirm the presence of these antibodies.

Ultrasonography. A wand-like device (transducer) is held over your neck. Sound waves
bounce through your neck and back, forming images on a computer screen. The images
reveal the size of your thyroid gland and whether the gland contains nodules that your
doctor may not have been able to feel.

A thyroid scan. During a thyroid scan, you'll have a radioactive isotope injected into the
vein on the inside of your elbow. You then lie on a table with your head stretched
backward while a special camera produces an image of your thyroid on a computer screen.

The time needed for the procedure may vary, depending on how long it takes the isotope to
reach your thyroid gland. Thyroid scans provide information about the nature and size of
your thyroid, but they're more invasive, time-consuming and expensive than are ultrasound
tests.

A biopsy. During a fine-needle aspiration biopsy, ultrasound is used to guide a needle into
your thyroid to obtain a tissue or fluid sample for testing.

Treatment
Goiter treatment depends on the size of the goiter, your signs and symptoms, and the
underlying cause. Your doctor may recommend:

Observation. If your goiter is small and doesn't cause problems, and your thyroid is
functioning normally, your doctor may suggest a wait-and-see approach.

Medications. If you have hypothyroidism, thyroid hormone replacement with

levothyroxine (Levoxyl, Synthroid, Tirosint) will resolve the symptoms of hypothyroidism
as well as slow the release of thyroid-stimulating hormone from your pituitary gland, often
decreasing the size of the goiter.

For inflammation of your thyroid gland, your doctor may suggest aspirin or a corticosteroid
medication to treat the inflammation. For goiters associated with hyperthyroidism, you may
need medications to normalize hormone levels.
 Surgery. Removing all or part of your thyroid gland (total or partial thyroidectomy) is an
option if you have a large goiter that is uncomfortable or causes difficulty breathing or
swallowing, or in some cases, if you have a nodular goiter causing hyperthyroidism.

Surgery is also the treatment for thyroid cancer.

You may need to take levothyroxine after surgery, depending on the amount of thyroid
removed.

Radioactive iodine. In some cases, radioactive iodine is used to treat an overactive thyroid
gland. The radioactive iodine is taken orally and reaches your thyroid gland through your
bloodstream, destroying thyroid cells. The treatment results in diminished size of the goiter,
but eventually may also cause an underactive thyroid gland.

II. Pattern of Inheritance

III. Prognosis of the Disease

IV. Diagnostic tool to determine the disease

V. Referrences:

Clinic Staff M. Goiter. Mayo Clinic. 2016 Nov 9 [accessed 2017 May 27].
http://www.mayoclinic.org/diseases-conditions/goiter/symptoms-causes/dxc-20264595

Harding DM. Goitre (Thyroid Swelling) | Health. Health | Patient. [accessed 2017 May
27]. https://patient.info/health/goitre-thyroid-swelling
Thyroid Goiter. UCLA Endocrine Center. [accessed 2017 May 27].
https://www.uclahealth.org/endocrine-center/thyroid-goiter