Genetic Disorders: Pituitary Dwarfism

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

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

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

*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

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

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

This symptom is usually more noticeable around the ages of five and six, with an average adulthood height of 6 feet, 3 inches. (NORD). Other physical symptoms consist of hypotonia or weak muscle tone, delayed motor skills, hypogonadism or low testosterone levels, delayed or absent puberty, and weak bones. (Healthline)

The provider is correct that short stature is not necessary for the diagnosis of growth hormone deficiency if the member is short for expected height; however, this member’s height has never clearly been outside the expected range for family. It also can be argued that delay in growth velocity can be masked by the pubertal growth spurt. However, review of the growth charts provided by the member’s primary care physician and endocrinologist does not clearly demonstrate abnormal growth velocity. While he did have one point that dipped down to the 10th percentile, overall his points are between the 10th and 25th percentiles and generally follow the same curve, indicating that one point is likely aberrant or perhaps consistent with normal prepubertal slowing in growth. After puberty started, the member grew at the upper end of the normal range, which is generally not seen in growth hormone

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.

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

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.

Achondroplasia is one type of short-limbed dwarfism where arms and legs are smaller in length but the head and torso look as if there is no deficiency. The word achondroplasia is derived from the phase "lacking cartilage development." Cartilage is hard and durable but is also a flexible tissue that makes up most of the bone structure during the early stages of development. Nonetheless, in achondroplasia there is no problem with developing cartilage, but instead the problem comes in converting it to bone, a development known as ossification, predominantly in the longer bones of the arms, such as the humerus, ulna and radius, and legs, which include the femur, tibia and fibula. Achondroplasia is comparable to additional skeletal syndromes known as hypochondroplasia, but the structures of achondroplasia have a tendency to be more intense. All people suffering with the genetic disorder achondroplasia are very short in physique. The typical height of a mature male with achondroplasia is 131 centimeters, or 4 feet 4 inches, and the typical height for mature females is 124 centimeters, or 4 feet 1 inch. It occurs in every 1 in 40,000 newborns making it the most known category of short limbed dwarfism.

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

Living with a genetic or rare disease can impact the daily lives of patients and families. Hypokalemic Periodic Paralysis is one of the many rare diseases that usually occur in approximately 1 in 100,000 people (Smart Engage, 2011). This disease is usually higher in Asian men whom also have thyroid problems. Just a note about why I chose this disease, was because I like watching a show named Hawthorne; and in one of the episodes an Asian mother and son had a disease that no one could figure out what it was. When I found out it was a genetic disease and had to do this paper I started to do some research. HOKPP is an autosomal dominant inheritance. This means that having a mutation in only one copy of one of the responsible genes in each cell