Genetic Disorders: Pituitary Dwarfism

Gigantism is abnormally large growth during childhood caused by excess growth hormone secreted by the anterior pituitary gland.

Two pt verifier name/dob confirmed. Informed the pt this a f/u call to address s/p/ pituitary Adenoma. Pt states that is doing much better but he occasional have a headache and stuffy nose. Discuss dc instructions medication, and f/u appt with the pt. Discuss s/s that would warrant the pt to seek medical attention immediately. Encourage the pt f/u with his PCM. During conversation pt request refill on his Synthroid. Informed the pt a courtesy 90 day supply was ordered. Again recommend that he f/u with his provider. Pt refused appt at this time, but states that he will call CAMO to schedule an appt. Pt agrees and verbalized

*Endocrine glands produce – hormones, they work with other hormones to perform many functions including: control water & electrolyte balance, regulating carbohydrate metabolism, working as neurotransmitters, maintaining stress & inflammation, regulate reproductive functions

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will not offend them would be little people, LP, person with short stature, or dwarf. Even though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it? March

Emily Wilson and Robert Fagles both translated Homer’s The Odyssey into their belief of his meaning of the epic poem, but their tones contrast. When Wilson depicts Odysseus and “the pain he suffered in the storms at sea”(Wilson 1.4), she does so with the use alliteration of “s” words to create a more gentle, benevolent tone. However, Fagles describes Odysseus as a “man of twist and turns”(Fagles 1.1). Fagles uses a callous tone as he uses “t” words to create harsh sounds.

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

i.When testing for hypothyroidism, why is the free T4 level an important measurement? Predict what the TSH and T4 test results would indicate in someone with primary hypothyroidism. Explain your answer. (100 – 200 words, 5 marks)

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

It has been found that the symptoms of Achondroplasia contain the most commonly seen ones for people with dwarfism. Such as, a short stature, legs, and arms, limited movements in the area of the elbows, an abnormal head size which contains a significant forehead and a compressed nose bridge, an estimated height of 4 feet, short fingers with a detachment in between the middle and ring finger, a projecting jaw, crowded teeth, and a development of bowed legs. Health experts also uncovered the symptoms of less common types, such as diastrophic dysplasia and spondyloepiphyseal dysplasias. Diastrophic dysplasia may include symptoms such as deformation in hands and feet and restricted movements. On the other hand, Spondyloepiphyseal dysplasias can

Gigantism is a condition characterized by excessive growth and height, particularly targeting the person’s appendages. Gigantism is also known as acromegaly if the condition persists into adulthood. The prefix acro- means extremity while the suffix -megaly means enlargement. Normal amounts of growth hormone are secreted by the pituitary gland using the negative feedback system. Dealing with endocrinology, gigantism is primarily caused by a tumor growth on the pituitary gland (Wisse, 2015). This creates a surplus of the human growth hormone typically secreted during puberty. If left untreated, the persons affected can expect a lowered life span. Despite the abnormal height and elongated appendages, the person’s affected can expect to be self-sufficient.

As per the Mayo Clinic the symptoms that the patient encountered is related to a pituitary adenoma, due to the tumor pressure (www.mayoclinic.org). The visual disturbances and headaches indicate an increase growth, which causes pressure to the surrounding area. The weight gain and increase in shoe size is caused by an increase production in growth hormone. Excess production in growth hormone can cause enlarged hands and feet.

In the 18th century, the Age of Enlightenment began in Europe. The Enlightenment was a philosophical movement that caused many philosophers to think differently. The new goals of these philosophers were liberty, reason, progress, tolerance and the end of the church and state conflicts. During this time, there were many wars between the Catholics and the Protestants which forced the French monarchy to choose in between them. Finally, it was over and the Catholics controlled most of the power and the Protestants were given the freedom and started becoming an important aspect of their

“The only true wisdom is in knowing you know nothing.” - Socrates. I believe that Greece was better than Rome because they impacted the U.S. more through entertainment and gods and religion.