what is congenital adrenal hyperplasia
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Overview Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above your kidneys. A person with CAH lacks one of the enzymes the adrenal glands use to produce hormones that help regulate metabolism, the immune system, blood pressure and other essential functions.
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- Hyperplasia is increased cell production in a normal tissue or organ. Hyperplasia may be a sign of abnormal or precancerous changes. This is called pathologic hyperplasia. It can also be due to the growth of completely normal cells.
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- cre·tin·ism. n. A congenital condition due to thyroid hormone deficiency during fetal development and marked in childhood by dwarfed stature, mental retardation, dystrophy of the bones, and a low basal metabolism. Also called congenital myxedema, cretinoid dysplasia.
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Patent Ductus Arteriosus Patent ductus arteriosus is a common condition of prematurely born children, but it is not considered a congenital defect in those children; rather it is typically a transient effect of their early birth and lung immaturity. Most of the time no cause for the PDA can be identified.
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What is CDH? CDH is the abbreviated name for Congenital Diaphragmatic Hernia. ‘Congenital’ means born with, ‘Diaphragmatic’ means of or affecting the diaphragm; which is a thin sheet of muscle that helps us to breath and keeps our chest and stomach contents separate.DH is the abbreviated name for Congenital Diaphragmatic Hernia. ‘Congenital’ means born with, ‘Diaphragmatic’ means of or affecting the diaphragm; which is a thin sheet of muscle that helps us to breath and keeps our chest and stomach contents separate.
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Congenital Hyperinsulinism Congenital Hyperinsulinism. Author: Robert S Gillespie, MD, MPH; Chief Editor: Stephen Kemp, MD, PhD more... Background. Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) represents the most common cause of hyperinsulinism in neonates; currently, many authors prefer the term congenital hyperinsulinism (CHI).
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What is congenital adrenal hyperplasia? There are two forms of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. 1  Classical CAH: This is the most severe form of the disease and is less common.  Nonclassical CAH: This is the most common form of CAH and is mild in presentation.
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- A congenital disorder, also known as a congenital disease, deformity, birth defect, or anomaly, is a condition existing at or before birth regardless of cause. Of these disorders, those characterized by structural deformities are termed congenital anomalies and involve defects in a developing fetus.
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- Gestational Hypertension: Pregnancy Induced Hypertension (PIH) Gestational hypertension, also referred to as pregnancy induced hypertension (PIH) is a condition characterized by high blood pressure during pregnancy. Gestational hypertension can lead to a serious condition called preeclampsia, also referred to as toxemia.
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- Congenital disorder, also known as congenital disease, birth defect or anomaly, is a condition existing at or before birth regardless of cause. Of these diseases, those characterized by structural deformities are termed congenital anomalies and involve defects in a developing fetus.Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as a teratogen.ongenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis .. Congenital anomalies of the kidney and urinary tract (CAKUT) include renal parenchyma, kidneys, and urinary collecting system.
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- Congenital diaphragmatic hernia. Congenital diaphragmatic hernia (CDH) is a congenital malformation (birth defect) of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm.
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Critical congenital heart disease Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development.
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- Cushing's Disease (hyperadrenocorticism) is a common condition in older dogs, often mistaken for the aging process itself. Dogs gain weight, lose hair, urinate in the house, and make owners begin to prematurely consider euthanasia. Yet Cushing's disease is treatable and that treatment can result in a longer, more comfortable life for the dog and its owner. Thus, it is important for the regular pet owner to learn the basic facts about Cushing's disease.
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Adrenal Disorders Adrenal insufficiency is treated with hormones that replace the hormones your body is lacking. A genetic condition called congenital adrenal hyperplasia also causes the adrenal glands to make too little cortisol and/or aldosterone, and too much androgen.
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Adrenal Disorders Two of the most important adrenal hormones are cortisol and aldosterone. The adrenal glands also produce adrenaline and small amounts of sex hormones called androgens, among other hormones. Adrenal disorders can be caused by too much or too little of a particular hormone... The adrenal glands, located at the top of each kidney, produce hormones that help the body control blood sugar, burn protein and fat, react to stressors like a major illness or injury, and regulate blood pressure.drenal insufficiency is treated with hormones that replace the hormones your body is lacking. A genetic condition called congenital adrenal hyperplasia also causes the adrenal glands to make too little cortisol and/or aldosterone, and too much androgen.
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- Endometrial hyperplasia is an abnormal thickening or growth of the lining of the uterus. There are several varieties: Simple hyperplasia. Complex hyperplasia without atypia-this type is a little thicker than simple hyperplasia, and has more crowding and abnormal architecture to the glands.Without treatment, about 10% of patients will progress to endometrial cancer.omplex hyperplasia without atypia-this type is a little thicker than simple hyperplasia, and has more crowding and abnormal architecture to the glands.
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Adrenal gland disorder Adrenal disorders may cause hyperfunction or hypofunction, and may be congenital or acquired.
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Congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 1  21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene. 2  3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene.
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Obamaâs Master George Soros: Supporting Americaâs Enemies at Home and Abroad Top Secret America is a project nearly two years in the making that describes the huge national security buildup in the United States after the Sept. 11, 2001, attacks. | Read More ». More than a dozen Washington Post journalists spent two years developing Top Secret America.
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Pituitary ACTH hypersecretion [edit on Wikidata] Pituitary ACTH hypersecretion (or Cushing disease) is a form of hyperpituitarism characterized by an abnormally high level of ACTH produced by the anterior pituitary. It is one of the causes of Cushing's syndrome. (However, Cushing's syndrome can be caused by many other causes, including exogenous administration.) ^ Drouin J, Bilodeau S, Vallette S (September 2007). Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency.
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Patent Ductus Arteriosus Patent ductus arteriosus (PDA) is a relatively common congenital heart defect in the United States. The condition occurs more often in premature infants (on average, occurring in about 8 of every 1,000 births).
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Carrollton, Texas Introduction to Carrollton, Texas. The Texas city of Carrollton is located on Interstate Highway I-35 about 18 miles north of Dallas. Situated within parts of three Texas counties (Denton, Dallas, and Collin), the city is surrounded by the Texas communities of Addison (to the east), Farmer's Branch (to the south), and Coppell (to the west). Other major roads serving Carrollton include Texas State Highways 190 and 121.
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Adrenal gland A number of endocrine diseases involve dysfunctions of the adrenal gland. Overproduction of cortisol leads to Cushing's syndrome, whereas insufficient production is associated with Addison's disease. Congenital adrenal hyperplasia is a genetic disease produced by dysregulation of endocrine control mechanisms.
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- Reference Range Interpretive Information • Congenital adrenal hyperplasia • Adrenal carcinoma • Virilizing tumors of the adrenals • Cushing’s disease, pituitary dependent • Addison’s disease • Adrenal hypoplasia Clinical Background Dehydroepiandrosterone sulfate (DHEA-S), which is synthesized almost exclusively by the adrenals, is a weak androgen, the most abundant C19 plasma steroid, and the major source of urinary 17-ketosteroids. Measuring serum DHEA-S, therefore, can replace older urinary 17-ketosteroid deter-minations. DHEA-S levels are markedly increased in patients with congenital adrenal
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Congenital Adrenal Hyperplasia These glands make hormones, cortisol and aldosterone, that are essential for life. People with congenital adrenal hyperplasia lack an enzyme the adrenal gland needs to make the hormones. At the same time, the body produces more androgen, a type of male sex hormone.
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Congenital anomalies Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies can be defined as structural or functional anomalies (e.g. metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth or later in life. The most common severe congenital anomalies are heart defects, neural tube defects and Down syndrome. 2  Although congenital anomalies may be genetic, infectious, nutritional or environmental in origin, most often it is difficult to identify the exact causes.