congenital adrenal hyperplasia symptoms
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What are the symptoms of congenital adrenal hyperplasia (CAH)? Symptoms of classic CAH due to 11-hydroxylase deficiency (5% of classic CAH cases) are similar to those of simple virilizing CAH. About two-thirds of people with classic 11-hydroxylase deficiency also have high blood pressure (hypertension). Salt-wasting CAH is the severe form of classic 21-hydroxylase deficiency.
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What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls. People with CAH cannot properly make cortisol and in some cases, are unable to produce aldosterone. They also produce too much of some androgens, such as testosterone and 17-hydroxyprogesterone.
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QVAR The medical term adrenal insufficiency (Addison's disease) refers to inadequate production of one or more of these hormones as a result of an underlying disease. Signs and symptoms of adrenal insufficiency may include: 1  Fatigue. 2  Body aches. 3  Unexplained weight loss. 4  Low blood pressure. 5  Lightheadedness. 6  Loss of body hair.
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Symptoms of Cushing's syndrome Symptoms may also include acne, emotional changes, and an increase in body hair. Complications of untreated Cushing's syndrome can be serious and include diabetes, hypertension, osteoporosis, kidney stones, and frequent infections. They may also include depression, anxiety, male impotence, and infertility.
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Dexamethasone: uses, dosage, side effects, warnings Returning hormone levels to normal in a disorder of the adrenal glands called congenital adrenal hyperplasia. Diagnosing the cause of Cushing's syndrome (dexamethasone suppression test). Reducing swelling in the brain or raised pressure inside the skull associated with brain tumours.
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Congenital Adrenal Hyperplasia Symptoms of congenital adrenal hyperplasia. CAH symptoms vary based on the degree of your condition. Severe cases usually show up before or at birth. Females can be born with unclear genitals. This means that their genitals may look more male than female. As they get older, girls could develop facial hair and a deep voice.
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Congenital Adrenal Hyperplasia: Symptoms and Treatment Congenital Adrenal Hyperplasia: Symptoms and Treatment Congenital adrenal hyperplasia is a health condition that refers to a group of multiple autosomal recessive diseases. The diseases are triggered by gene mutations that affect the biochemical breakdown of cholesterol into cortisol. The trigger factor is adrenal gland abnormality or steroidogenesis.
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Congenital Adrenal Hyperplasia (CAH) Congenital Adrenal Hyperplasia (CAH): Overview. Congenital adrenal hyperplasia (pronounced kuhn-JEN-i-tl uh-DREEN-uhl hahy-per-PLEY-zhuh), or CAH, refers to a group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function.
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Primary hyperaldosteronism overview Patients with Conn's syndrome due to primary hyperaldosteronism may have an aldosterone producing adrenocortical adenoma (APA); classically referred to as Conn's syndrome, a unilateral hyperplasia, idiopathic hyperaldosteronism (IHA, also known as bilateral adrenal hyperplasia), familial forms (familial hyperaldosteronism types I, II, and III) have also been described, ectopic secretion of aldosterone (the ovaries and kidneys are the 2 organs described in the literature that, in the setting ...
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- Congenital adrenal hyperplasia. Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands.
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Adrenal Insufficiency (Addison's Disease) Type I occurs in children, and adrenal insufficiency may be accompanied by underactive parathyroid glands, slow sexual development, pernicious anemia, chronic candida infections, chronic active hepatitis, and, in very rare cases, hair loss. Type II, often called Schmidts syndrome, usually afflicts young adults.
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Congenital Heart Disease In some cases, the symptoms of a congenital heart defect may not appear until shortly after birth. Newborns with heart defects may experience: 1  bluish lips, skin, fingers, and toes.  breathlessness or trouble breathing.
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Signs & Symptoms of Cushing's Disease in Dogs Early Symptoms. The most common early signs of Cushing's disease include increased appetite, water consumption and urination. High cortisol levels stimulate the appetite. Dogs with Cushing's disease often seem to be constantly ravenous, leading them to steal food from the garbage and constantly beg for treats.
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Cushing Disease Back to Top Symptoms. Symptoms of Cushing disease include: 1  Upper body obesity (above the waist) and thin arms and legs. 2  Round, red, full face (moon face). 3  Slow growth rate in children.
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What is glucokinase congenital hyperinsulinism? Congenital hyperinsulinism causes low blood sugar (hypoglycemia).The symptoms of hypoglycemia in infants are often difficult to identify, as they can be similar to normal infant activities. More severe symptoms, such as seizures and coma, can occur with a prolonged low blood sugar or an extremely low blood sugar.
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Symptoms of Cushing's disease Symptoms of Cushing's disease. The list of signs and symptoms mentioned in various sources for Cushing's disease includes the 74 symptoms listed below: 1  Specific childhood or adolescent Cushing's symptoms: 2  Extreme weight gain. 3  Growth retardation. 4  Missed periods-in teenage girls. 5  Excess hair growth.
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Syndrome of Inappropriate Antidiuretic Hormone Secretion Patients may have symptoms that suggest increased secretion of ADH, such as chronic pain, symptoms from central nervous system or pulmonary tumors or head injury, or drug use.
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- Some common symptoms of skeletal dysplasias include: 1  Shortening in the bones of the legs and/or arms. 2  Bowed or fractured bones. 3  A small thorax. 4  Abnormal ribs.
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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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Congenital Adrenal Hyperplasia (Adrenogenital syndromes) Statistics on Congenital Adrenal Hyperplasia (Adrenogenital syndromes) 21-hydroxylase deficiency presents in 1 in 15000 births and accounts for 90% of cases of congenital adrenal hyperplasia. 11-hydroxylase deficiency occurs in 1 in 200000 births and 17-hydroxylase, 3-hyroxysteroid dehydrogenase and 20,22 desmolase deficiencies are rare.
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Symptoms of Cushing's syndrome Common symptoms of Cushing’s syndrome (due to an adrenal, pituitary, or ectopic tumor) can include: 1  Upper body obesity, round face and neck, and thinning arms and legs. 2  Skin problems, such as acne or reddish-blue streaks on the abdomen or underarm area.  High blood pressure.
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- Elevated levels of ACTH cause. overproduction of the hormone cortisol from. the adrenal gland. Cushing’s disease is associated with a slow. onset of clinical signs that may include. development of a long and curly hair coat, increased water consumption and urination, excessive sweating, and lactation. Hair coat. changes usually develop years after the. beginning of pituitary dysfunction.
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Adrenoleukodystrophy Signs and symptoms. ALD can present in different ways. The different presentations are complicated by the pattern of X-linked recessive inheritance. There have been seven phenotypes described in males with ABCD1 mutations and five in females. Initial symptoms in boys affected with the childhood cerebral form of ALD include emotional instability, hyperactivity and disruptive behavior at school.
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Addisonâs Disease Sometimes, however, the signs and symptoms of Addison's disease may appear suddenly. In acute adrenal failure (addisonian crisis), the signs and symptoms may also include: 1  Pain in your lower back, abdomen or legs.  Severe vomiting and diarrhea, leading to dehydration.