Non Classical Congenital Hyperplasia Essay

Superior Essays
Non-classical congenital adrenal hyperplasia or NCAH is a disorder that affects both men and women from late childhood through the rest of their lives. Compared to its sister form, classical congenital adrenal hyperplasia, it is non-life threatening. The Mayo Clinic, a service that gives people medical information and helps set up doctor appointments, defines NCAH as “a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones.” These vital hormones include, but aren’t limited to, estrogen, testosterone, aldosterone, androgens and corticosteroids. Non-classical congenital adrenal hyperplasia is an uncommon disorder affecting only one percent of the population in a 1 to 1000 ratio, according to the National Library of Medicine. From experience, this disorder is rather frustrating, difficult to manage, and painful at times but NCAH is treatable. At the cellular level of this disorder, non-classical congenital adrenal hyperplasia is a 21-hydroxylase deficiency, a common autosomal recessive disorder due to mutations in the CYP21A2 gene, according to Dr. Selma Witchel, a pediatric endocrinologist at Children’s Hospital in …show more content…
The endocrine system is a network of glands that produce and release hormones that help control many important body functions (WebMD). The glands in the endocrine system release specific, yet different, hormones directly into the blood stream. So, as mentioned earlier, women wouldn’t exhibit male traits such as growth of facial and excessive body hair, enlarged genitals, and normal reproductive abilities. The same applies for men. At the cell level, there would be no 21-hydroxylase deficiency, allowing for normal corticosteroid production and no excessive aldosterone and androgen production. Adrenal glands would be of a normal size with no excessive cell

Related Documents

  • Improved Essays

    At a young age of four months, little Aidan had to get a surgery to repair his abdominal muscle. In the surgery the doctors also discovered some distinct facial issues that was the problem that they diagnosed was the reason why Aidan had feeding issues. While time passed by Aidan’s mother and his preschool teacher began to grow more and more concerned. They both noticed that Aidan was far behind with his developmental setbacks. Aidan’s mother decided to bring Aidan to numerous clinical and genetic specialists, they weren’t able to come up with a diagnosis for poor Aidan.…

    • 464 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Adrenzo Movie Analysis

    • 613 Words
    • 3 Pages

    Most of which are portrayed in the film. Adrenoleukodystrophy is passed down from the parents to their children as an X-linked genetic trait. Therefore, it affects mostly males, although some women who are carriers can have milder forms of the disease. Treatment for ALD is simple, Lorenzo's oil can help give the body the longer chain of fatty acids. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.…

    • 613 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Mr Penzey Case Study

    • 685 Words
    • 3 Pages

    What did the genetic results suggest about Mr. Penzey’s condition? The mutation on the agarose gel showed the presence of a chimeric 11-β-hyroxylase gene which caused an overproduction of the enzyme aldosterone synthase. How is this enzyme involved in the function of ACTH, aldosterone and cortisol? How do these hormones affect the homeostasis of blood pressure?…

    • 685 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    Ap Psychology 5.1

    • 1446 Words
    • 6 Pages

    Review Questions # 5 2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and achondroplasia(dwarfism) and this dominant gene is inherited by their child who will also develop the disorder.…

    • 1446 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    Trisomy 21 Research Paper

    • 1600 Words
    • 7 Pages

    Describe trisomy 21. Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21.…

    • 1600 Words
    • 7 Pages
    Improved Essays
  • Improved Essays

    Cushing’s Disease Description Cushing’s Disease is an adrenal gland disease in which there is an excess of the steroid hormone, cortisol, within the body. With Cushing’s Disease the body releases too, much of the adrenocorticotropic hormone (ACTH). This disease is rare as it effects 10 to 15 people per million each year.…

    • 581 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Genetics Involving Pheochromocytomas Jillian Benson Baker University School of Nursing Genetics Involving Pheochromocytomas Pathophysiology Pheochromocytomas and paragangliomas are rare, benign tumors that develop from chromaffin cells, which are located in the neuroectodermal tissues around the spinal column and the adrenal glands (Grouzman et al., 2015 and Santos, 2014). Pheochromocytomas are located inside of the adrenal gland, while paragangliomas are located outside of the adrenal gland. These tumors are known to secrete neurotransmitters such as epinephrine and norepinephrine, as well as catecholamines (VanMeter & Hubert, 2014, p. 423). According to a research article written by Eric Grouzmann (2015), “In chromaffin cells and pheochromocytes, norepinephrine (NE) and epinephrine (E) are stored in vesicles where they sustain a passive leakage into the cytoplasm before being recaptured in the vesicle pool” (p.2). This is important because, the enzyme responsible for transforming norepinephrine into epinephrine is only in the adrenal medulla and is…

    • 832 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    PAI Diagnostic Disorder

    • 567 Words
    • 3 Pages

    Some of these conditions include cardiogenic shock, hyperkalemia, hypovolemia, sepsis, exogenous intoxication. We can differently diagnose by examining the patients’ medical history and the existence of associated disorders [3]. If the adrenal gland is enlarged and calcified on an abdominal CT then adrenoleukodystrophy (ALD), a rare genetic metabolic disorder can be ruled out [3]. Treatment To best manage PAI yearly reviews by an endocrinologist are recommended to look at mineralcorticoid replacement therapy and in order to check for new autoimmune diseases that might have arisen.…

    • 567 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    Addison disease is a rare primary adrenal insufficiency, or progressive anemia, affecting those between the ages of 30-60 years old, but has been known to manifest at any time. There is an autoimmune mechanism that works to destroy adrenal cortical cells. It is characterized by insufficient corticosteroid and mineralocorticoid synthesis with elevated levels of serum ACTH. Idiopathic Addison disease, or organ-specific autoimmune adrenalitis, is an organ specific autoimmune disease that causes adrenal atrophy. It allows for the production of immunocytes against specific antigens within the adrenocortical cells.…

    • 182 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Cushing syndrome is a silent disease that hides behind extreme weight gain and a variety of seemingly random symptoms. Its name can change depending on the origin of the illness. Cushing syndrome refers to all patients with the classic symptoms and signs of the condition regardless of the cause, while Cushing disease is reserved for patients in which the signs and symptoms are caused by an adrenocorticotropic hormone (ACTH) secreting tumor. Of all the patients with spontaneously occurring Cushing syndrome, nearly seventy percent have Cushing disease. Cushing disease occurs when the body's tissues are exposed to high levels of cortisol hormone for too long.…

    • 308 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    It usually occurs from excess production by one or both adrenal glands, or overproduction of the adrenocorticotropic hormone (ACTH), which in turn stimulates the adrenal glands to make more cortisol. When this form of the syndrome develops, it's exclusively called Cushing disease. Although mostly seen in women, Cushing’s disease can affect nearly anyone. (Mayo…

    • 907 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Cushing Syndrome Essay

    • 330 Words
    • 2 Pages

    Cushing syndrome refers to the complex clinical manifestations resulting from chronic exposure to excess cortisol. Cushing disease is overproduction of pituitary ACTH by a pituitary adenoma (McCance, Huether, Brashers, & Rote, 2014, p. 754-755). Cushing’s disease is defined by Adrenocorticotropin hormone (ACTH) hypersecretion, induced by a corticotrophic adenoma, leading to cortisol and androgen hypersecretion. Cushing’s disease may lead to death if untreated; it is responsible for increased morbidity and mortality, due to cardiovascular complications, infections and psychiatric disturbances. Signs and symptoms of hypercortisolism are usually non specific: obesity, signs of protein wasting, increased blood pressure, variable levels of hirsutism,…

    • 330 Words
    • 2 Pages
    Improved Essays
  • Superior Essays

    He was diagnosed with Cushing’s Syndrome. Cushing’s Syndrome is serious condition where there is an excess amount of the hormones secreted by the adrenal cortex including glucocorticoids, mineralocorticoids, and gonadocorticoids circulating in the blood (Timby, 2014). This imbalance can be caused by pituitary tumor secreting too much adrenocorticotrophic hormone (ACTH). When there is an excess amount of ACTH secreted by the…

    • 1820 Words
    • 8 Pages
    Superior Essays
  • Improved Essays

    Addison’s Disease is a disease when adrenal glands don’t produce enough hormones. The adrenal glands also do not produce enough cortisol and aldosterone. Cortisol is a steroid hormone and aldosterone helps regulate blood pressure. There are less than 200,000 cases in the U.S per year, so it is a rare disease. It affects both sexes of all ages, and affects 1 in 100,000 people.…

    • 508 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    1. Research Question a. What is an Endocrine Disruptors, and how does it affect the normal function of the endocrine system? 2. Overview of Topic by the Book a. The endocrine system is responsible for controlling and organizing bodily functions.…

    • 969 Words
    • 4 Pages
    Improved Essays