Essay On Acromegaly

This Disorder can occur at any age and affects approximately eight percent of the adult population.

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

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

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

Surgery. This is rarely needed, but it may be considered in adults who are done growing and continue to have symptoms.

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)

Benjamin is a 12-4/12 year old boy with Velocardiofacial syndrome, who has been followed for quite some time. Benjamin presented with concerns of micropenis, as well as growth failure. As you can see from the attached penile growth curve Benjamin does in fact have a micropenis with a measurement that is significantly below the normal curve. With respect to his height, he was monitored and fell from 50% to just above 10% on the growth curve. He subsequently underwent growth hormone stimulation testing which he failed with a peak growth hormone response of 2.4ng/ml. Clearly, the failed growth hormone stimulation test and the micropenis are consistent with diagnosis for growth hormone deficiency.”

beginning with growth failure during the first year of life. Progeria is a rare condition but has come into

The pituitary is stimulated to release growth hormone (GH) by growth hromone releasing hormone (GHRH) produced in the hypothalamus. It is inhibited from releasing growth hormone by growth hormone release-inhibiting hormone(GHRIH), also produced by the hypothalamus.

Outline the causes, incidence and risk factors of the identified condition and how it can impact on the patient and family

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.

The purpose of this paper is to provide the reader with an overview of this condition. A description of the condition will be provided, including: related statistics, predisposing risk factors,

Sotos Syndrome, also known as Cerebral Gigantism, is a rare genetic disorder that can be identified by excessive growth in early childhood and acromegalic facial features. This condition comes along with various health side effects that can cause life to be profoundly hard for one who has it. After watching TLC’s show Tallest Teens, in which they featured 7 feet 8 inches Broc Brown, a now 20 year old man with Sotos syndrome, I became interested in learning about this syndrome. After consequently seeing the show and watching how many health problems and hardships Brown faced daily, I became extremely interested in the syndrome and curious as to if there is any medical research being done about it.

Dear Patient, I'm sorry to inform you but your daughter has Achondroplasia, a growth condition your child has been born with. 1 out of 15,000 births in the United States experience this condition like your daughter ( National Institutes of Health. (n.d.). The reason this happen is actually unknown, the only way we can see this birth defect happiness is when either your husband's sperm or your egg was effected before she was born. ( Mayo Clinic Staff. (2016, April 03). the Symptoms are twisted elbows and feet, a abnormally long or short trunk, and the height under 4 feet 10 inches. ( Mayo Clinic Staff. (2016, April 03). The way we spotted this condition was when you had your ultrasound and found the fetus had shorten bones, we had a Amniocentesis test and it confirmed Achondroplasia. (March of Dimes. (April, 2013). Sadly Achondroplasia is not curable but to take some steps to improve your daughters health are hormone therapies to help increase bone growth or you can have surgery to add gaps in her bones to grow. (Mayo Clinic Staff. (2016, April 03). The best thing in my opinion as a professional is to treat her as a normal person and to help her in time of

of seven. If Gigantism is diagnosed after puberty it’s called Acromegaly, and causes patients to