Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders caused by impairment of biosynthesis of cortisol, aldosterone, and androgens. More than 85-90% of CAH is due to 21-hydroxylase deficiency. This is due to the defect in 2 genes-CYP21P and CYP21. 90% of the mutated forms causing 21-hydroxylase deficiency and they all recombination between CYP21 and CYP21P. Clinically they all are divided into two forms deficiency are described- the classical form, which is subdivided into simple virilising form and salt-wasting form and non-classical form. Treatment includes the glut corticoid treatment with mineral corticoid or without mineralocorticoid and salt replacement. This review will focus on the basic etiology, epidemiology, pathogenesis, clinical manifestations, laboratory findings, treatment and prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Introduction
Congenital Adrenal Hyperplasia (CAH), a group of autosomal recessive disorders characterized by enzyme defects in the pathways of steroid biosynthesis involved in the formation of cortisol, aldosterone and androgens. 21-Hydroxylase (21-OH) is the most common of the enzymatic deficicient being found in 94% of cases, which is formed due to mutation of 21-hydroxylase gene CYP21A2. Categorizations lead to two forms severe form or
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17-hydroxyprogesterone levels should not be maintained in one way of treatment, since the doses of glucocorticoid that may cause Cushing’s syndrome. Rather, 17- hydroxyprogesterone levels should be partially suppressed to the range of 90 to 1000 mg per deciliter (4 to 33 nmol per liter). only in Androstenedione and testosterone levels are very important in prepubertal children Pubertal development should be monitored by regular periodic charts, Radiographs shows skeletal maturations of the hand and wrist for bone
The other hormone that can be affected if diagnosed with Addison 's disease is aldosterone. Aldosterone belongs to a class of hormones known as mineralocorticoids. Aldosterone is used to maintain blood pressure and water and salt balance in the body by helping the kidney retain salt or release potassium (MedicineNet, 2011). If the aldosterone levels fall too low the kidneys are unable to regulate sodium and water levels that result in a drop of blood volume and blood pressure.
Cortisol plays a major role in the development of this disorder. It is secreted by the adrenal gland, located above the kidneys, in a precise sequence of events. The hypothalamus directs corticotropin-releasing hormone(CRH) to the pituitary gland.1 CRH causes the pituitary to release adrenocorticotropin hormone(ACTH) activate the adrenal glands.1 The adrenal glands pick up the ACTH, they reciprocate by releasing cortisol in the bloodstream.1 Cortisol helps with quite a few of your body functions. Some of these functions are stress response, balancing the effects of insulin, reducing the immune system’s inflammatory response, regulating
Cushing 's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion (Yaneva, 2010). Cushing 's disease occurs infrequently in an inherited setting in both of these conditions (Yaneva, 2010).
Within the human body, many functions are regulated by the endocrine glands, which secrete hormones. Abnormal levels of any of these hormones can lead to a number of disease states. One of these hormones is cortisol which is produced by the adrenal gland. Excess levels of cortisol can manifest in Cushing disease and Cushing syndrome, with a variety of symptoms, test methods and treatments.
1. Cushing's disease is a hormonal disorder which is caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. It is sometimes referred to as hypercortisolism, it is fairly rare and it most commonly affects adults between the ages of 20 to 50. There is an estimated 10 to 15 of every million people who are affected every year.
Alongside with organs, bones, and tissues, the human body also functions through hormones. Some of these hormones are produced by the adrenal glands which are located right above the kidneys. Adrenal glands produce hormones that give vital instructions to almost every organ and every tissue in your body. When someone’s adrenal glands do not produce enough amounts of certain hormones such as cortisol and aldosterone, this often leads to Addison’s Disease.
Primary Adrenal insufficiency (PAI) or Addison’s Disease, as it is more commonly known as, is defined as an insufficient production of glucocorticoids (cortisol). Cortisol is a regulatory hormone which is secreted and synthesised by the adrenal cortex of the adrenal glands (1).
According to http://www.webmd.com/, “the adrenal glands don't make enough of a hormone called cortisol, or less often, a related hormone called aldosterone.” That's why doctors sometimes call the illness ''chronic adrenal insufficiency,'' or hypocortisolism. “most important function is to help the body respond to stress. It also helps regulate your body's use of protein, carbohydrates, and fat; helps maintain blood pressure and cardiovascular function; and controls inflammation.” Aldosterone helps your kidneys regulate the amount of salt and water in your body -- the main way you regulate blood volume and keep your blood pressure under control. When aldosterone levels drop too low, your kidneys cannot keep your salt and water levels in balance. This makes your blood pressure drop. “There are two forms of Addison's disease. If the problem is with the adrenal glands themselves, it's called primary adrenal insufficiency. If the adrenal glands are affected by a problem starting somewhere else -- such as the pituitary gland -- it's called secondary adrenal
CT of the abdomen and pelvis with contrast is a tool to identify pathology in a large number of conditions. In patients with endocrinopathies, pancreatic and adrenal lesions may be identified that could relate to their condition. In this patient, it is theoretically possible for the Cushing syndrome to be caused by a cortisol-secreting adrenal tumor. However, Cushing syndrome is much more commonly secondary to exogenous glucocorticoids rather than endogenous glucocorticoids; therefore, stopping the patient’s prednisone use should be the first step. If the symptoms of steroid excess persist, then a CT of the abdomen with a three-phase adrenal protocol could be performed to identify a potential adrenal
Addison disease effects the Endocrine system because the adrenal glands doesn’t produce enough of the hormone cortisol which the brain sends to the adrenal instructing them to make cortisol called secondary adrenal insufficiency
70% of the patients that are diagnosed with Addison’s suffer from an autoimmune disease like HIV (Renz, 2012). Very rarely will it be a genetic mutation they are born with but it does happen. Another cause is malignancy. Tumors metastasize from another organ and start disrupting the hormone flow of the adrenal glands, like lymphoma (Renz, 2012). Another cause is long lasting infections like tuberculosis (Lovas & Husebye, 2005). This is how Addison’s disease was originally diagnosed. Over time, tuberculosis evolves and starts causing a hormone mix-up. On occasion, Addison’s may be caused by trauma. This is the case when it comes to the author’s father. The pituitary gland can be damaged based on the high mechanism of injury to the brain. The pituitary controls all the glands in the human body including the adrenal glands. To put it all in perspective, Addison’s disease basically creates an all-out warfare between your anti-bodies and your adrenal
Addison’s disease, also known as hypocortisolism or hypoadrenalism is a chronic life threatening adrenal insufficiency. This rare disease occurs when the adrenal glands do not produce enough cortisol. This disease can happen if your adrenal or pituitary gland is damaged. The body’s immune system can also attack the adrenal system causing damage to the glands. Addison was harmed in 1849 by thomas addison's the doctor who first diagnosed the condition. Approximately 9000 men and women of all ages each year in the united states are diagnosed with addisons.
A disorder that takes place when your body produces an insufficient amount of certain hormones that are produced by the adrenal glands is called Addison’s disease. With Addison’s disease, the adrenal glands do not produce enough cortisol and often times an insufficient amount of aldosterone as well. Doctors sometimes refer to Addison’s disease as the illness of chronic adrenal insufficiency, or also called hypocortisolism.
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
ACTH-independent Cushings Syndrome typically originates from abnormalities of the adrenal gland. Adrenal adenoma and adrenal carcinoma occur when there is a benign or cancerous tumor on the adrenal gland. These tumors can cause over production of cortisol, disrupting homeostasis. Other diseases like Carney complex and McCune Albright syndrome have also been associated with abnormalities of the adrenal gland, causing overproduction of cortisol. A final form of cushings syndrome is exogenous glucocorticoid administration.