quora
Nobody downloaded yet

Congenital Adrenal Hyperplasia - Term Paper Example

Comments (0) Cite this document
Summary
Pattern of inheritance Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that result enzyme denaturation and subsequently to deficiency in cortisol, aldosterone or both (Haldeman-Englert n.pag.; Wilson n. pag.). This means that a person with CAH can only be born from allele-carrying patients and/or clinically-presenting CAH individuals…
Download full paperFile format: .doc, available for editing
GRAB THE BEST PAPER91.3% of users find it useful
Congenital Adrenal Hyperplasia
Read TextPreview

Extract of sample
"Congenital Adrenal Hyperplasia"

Download file to see previous pages pag,). In humans, the gene coding for 21-hydroxylase is located at the major histocompatibility complex on chromosome 6p21.3. Partial deletions, as well as point missense and nonsense mutations, have been found to cause such chromosomal aberrations (Riepe, et al. 2563). Clinical Presentation Early diagnosis is more difficult in cases of CAH because no physical symptoms are present at birth. Thus, the presence of the condition is missed until the age of puberty is reached, when the expected physical changes are not met. As an individual with CAH ages, ambiguous genitalia, accelerated growth, and premature skeletal maturation are seen, due to excessive adrenal androgen production. In males, enlarged penises are noticed even during pre-puberty. On the other hand, such genital enlargement is seen in females as clitoromegaly. In addition, females with CAH present with oligomenorrhea, hirsutism, absence of secondary sexual characteristics, and/or fertility. Because of these features, females with undiagnosed CAH are nurtured as males. Among males, severe cases cause severe symptoms such as failure to thrive, recurrent vomiting, dehydration, hypotension, hyponatremia, hyperkalemia, and shock. However, 11-hydroxylase and 17-alpha-hydroxylase-deficient patients may be hypokalemic, and Electrolyte imbalance is caused by adrenal insufficiency, while hypoglycemia and hypotension results from cortisol deficiency (Haldeman-Englert n. pag.; Wilson n. pag.). Treatment In managing patients with CAH, a comprehensive approach on treatment is needed, since the condition does not only affect the physical, but the emotional and psychological aspects of the patient as well. It should, thus, involve medical therapy, surgical intervention and lifestyle modifications. Medical intervention Primarily, the role of medical intervention is to replace glucocorticoids and mineralocorticoids, as well as to decrease the serum levels of virilizing precursor hormones. However, certain medications are necessary to avoid fatal consequences resulting from the symptoms of adrenal insufficiency (Wilson n. pag.). 1.) Corticoids Physiologically, glucocorticoids and mineralocorticoids released by adrenal glands in response to increased levels of adrenocorticotropin hormone (ACTH) are important in regulating normal glucose and electrolyte levels, respectively. In CAH therapy, glucocorticoids are given to suppress the perpetually elevated ACTH levels and adrenal androgen production, while mineralocorticoid therapy reduces angiotensin II levels that regulate blood pressure. All healthcare providers or caretakers of CAH patients should always have an injectable glucocorticoid at hand in case of rapid decline. These medications are safe, since they are normal products of the body, they do not have contraindications, and they only have minimal drug-drug interactions (Wilson n. pag.). Normally, increased levels of cortisol are apparent among individuals who experience stress or illness. However, as mentioned above, such response is absent among CAH patients due to lack of enzymes needed to produce cortisol. Thus, among CAH individuals, in cases of stress or illnesses, stress dosages of hydrocortisone (50-100 mg/m2 or 1-2 ...Download file to see next pagesRead More
Cite this document
  • APA
  • MLA
  • CHICAGO
(“Congenital Adrenal Hyperplasia Term Paper Example | Topics and Well Written Essays - 1250 words”, n.d.)
Retrieved from https://studentshare.org/biology/1448118-congenital-adrenal-hyperplasia
(Congenital Adrenal Hyperplasia Term Paper Example | Topics and Well Written Essays - 1250 Words)
https://studentshare.org/biology/1448118-congenital-adrenal-hyperplasia.
“Congenital Adrenal Hyperplasia Term Paper Example | Topics and Well Written Essays - 1250 Words”, n.d. https://studentshare.org/biology/1448118-congenital-adrenal-hyperplasia.
  • Cited: 0 times
Comments (0)
Click to create a comment or rate a document
CHECK THESE SAMPLES - THEY ALSO FIT YOUR TOPIC
Breast Cancer Literature Review
Among Canadian women, breast cancer accounts for 28 percent of cancer cases. According to Canadian Breast Cancer Foundation (2011), "in 2011, an estimated 23,400 women in Canada will be diagnosed with breast cancer, an increase of 200 from 2010. On average, 450 Canadian women will be diagnosed with breast cancer every week." The rise in public awareness has improved screening and has facilitated earlier diagnosis, at stages when curative therapies and complete surgical resection is possible.
4 Pages(1000 words)Term Paper
Respiratory Synovial Virus (RSV)
As of now, there is no vaccine for RSV infection and the vaccine is under the development stage (Krilov, 2011). Epidemiology Peak incidence occurs between 2-8 years of age (Fryzek et al, 2011). In the United States, more than 4 million children ages less than 4 years of age acquire this infection and more than 125, 000 children get hospitalized because of this infection (Krilov, 2011).
6 Pages(1500 words)Term Paper
Endocrine Disorders
The main function of these hormones is to control the metabolic rate of the body. The production and secretion of these hormones from thyroid gland are regulated by another hormone thyroid stimulating hormone (TSH) which is released from the anterior lobe of the pituitary gland.
3 Pages(750 words)Term Paper
Congenital Hypothyroidism
It is also known that the CHT caused by organification defects is often recessively inherited. Genes associated with CHT are known to form two main groups: Genes associated with the former include the TSH receptor in nonsyndromic congenital hypothyroidism, and Gsa and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8).
4 Pages(1000 words)Essay
Color and Congenital Blindness
The absence of vision and myopic sensitivity at the time of birth means that a person shall never be able to recover from unsighted ness. This particular state is known as congenital blindness. Astonishingly, blindness hardly ever means total deficiency of light perception.
4 Pages(1000 words)Essay
Toxoplasmosis
In the United States, it was analyzed that 5 to 10% of people in the different areas of the country had antibodies against the organism. The protozoa itself is also found in many birds as well as animals but the cats and the
5 Pages(1250 words)Term Paper
Benign prostatic hyperplasia (BPH)
The disease has a number of symptoms including weak stream, urinary frequency, hesitance during urination, nocturia, terminal dribbling, urge inconsistence and incomplete emptying. This paper therefore provides a comprehensive discussion of benign
6 Pages(1500 words)Term Paper
The Effects of Metformin on Polycystic Ovarian Syndrome
The main theme of the paper is the identification of the effects of the use of Metformin in the treatment of Polycystic Ovarian Syndrome in women. Polycystic Ovarian Syndrome is the leading cause of infertility in women, which causes an increase in the level of insulin in the body thus necessitating the use of drugs such as Metformin which helps in the management of insulin and sugar.
36 Pages(9000 words)Term Paper
Family Systems Paper
However, he decided to pursue freelancing by forming first a currency exchange business and then a transportation business. His wife Nighat Mahmood was born and raised in Pakistan where she earned her MBA (Masters in Business Administration) from Kotli University after which she was married off to Mahmood.
8 Pages(2000 words)Term Paper
Strengths and Weaknesses of Genetic Testing
Strengths and Weaknesses of Genetic Testing Genetic testing examines the DNA molecule for any genetic disease or any illness present in the molecule. Chemical test including the product of gene such as enzymes and proteins also include in the genetic testing.
6 Pages(1500 words)Term Paper
sponsored ads
We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.
Let us find you another Term Paper on topic Congenital Adrenal Hyperplasia for FREE!
logo footer
Contact us:
+16312120006
Contact Us Now
FREE Mobile Apps:
  • StudentShare App Store
  • StudentShare Google play
  • About StudentShare
  • Testimonials
  • FAQ
  • Blog
  • Free Essays
  • New Essays
  • Essays
  • Miscellaneous
  • The Newest Essay Topics
  • Index samples by all dates
Join us:
Contact Us