PITUITARY DWARFISM SYNDROME
-ACHONDROPLASIA: GROWTH
HORMONE DEFICIENCY
Ashley Waldo
4th Period Biology Honors
February 23, 2015

WHAT IS PITUITARY DWARFISM
SYNDROME?

• Dwarfism is a condition in which the growth of a human is delayed.
There are many types of dwarfism, but the word pituitary refers to the pituitary gland at the base of the brain. This gland regulates specific chemicals (hormones) in the body. Therefore, pituitary dwarfism is decreased growth and development of a body due to hormonal irregularities. The product of this is a proportionate small person. They are proportionate because the height and all other bodily structures have stimulated growth.

LOGISTICS-INHERITANCE & CAUSE
• Pituitary Dwarfism Syndrome is an autosomal disorder that is caused by mutations in the GHR gene. GHR gene is a growth hormone receptor gene that generates growth hormone binding proteins to continue growth and development, and it’s located on chromosomes 3 and 7.

• Pituitary dwarfism has been shown to run in families, and it is a dominant trait.
As we know, a human cell has 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are identical or almost identical.

• However, with dwarfism, there’s disruption on different areas of chromosome number 3 and 7. Studies have isolated defects for the production of pituitary hormones to the short arm of chromosome 3 at 3p11. Studies have also found changes on the short arm of chromosome 7, but it is very difficult to pinpoint an exact location here.

DESCRIPTION-SYMPTOMS, EFFECTS, & LOCATION
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Physical/Physiological Symptoms & Bodily Effects

The most common symptom is lack of height. A child with pituitary dwarfism is often small with an immature face and chubby body build. The person looks younger than they are, though body structures are proportional.
It is recognizable as young as a toddler. It is a rarity for puberty to be completed.
The person also has a common symptom of double vision and sleep disturbances. Depression is also common. The brain functions properly and the person isn’t mentally

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Location

This problem is centered in the pituitary gland (of the endocrine system), which is located in the base of the brain below the cerebrum. The pituitary gland secretes many hormones, and in this case, the growth hormone is the one with the issue.

CHARACTERISTICS OF EVERYDAY LIFEGOOD AND BAD
• Overall bodily functions are normal, but there are multiple disadvantages. It’s difficult to run, walk, drive, reach countertops and high objects, and many more daily tasks. It’s hard, but manageable.

• People with dwarfism can legally drive and they can reproduce. They also have a strong sense of balance. They can be healthy and independent just as often as any human.
People with dwarfism have the same rights as regular citizens, though their physical limitations offer a setback. There are also many negative stereotypes that some people with dwarfism are set to conquer.

• The life expectancy is not drastically different than any other person, but those with pituitary dwarfism averagely live 14 years less than a person without dwarfism. The oldest person to live with dwarfism died when he was 79.

DIAGNOSTIC
TESTING
• Pituitary dwarfism is most often congenital; which means the child was born with the genetic disorder. Or can be acquired during or right after birth. It tends to run in families.

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When or if parents notice dysfunction or irregularity in the height of their child at any age, there is one easy test done for confirmation.

• It can be acquired by a tumor (in rare cases) and results in headaches, vomiting, and excessive thirst. •

In this test, an x-ray is taken of a child’s hand and the bone age is discovered and recorded. If the bone age is different than the child’s chronological age, then the immediate assumption is that the child has pituitary dwarfism. • Pituitary dwarfism can usually be detected in the womb by testing using a