Congenital Adrenal Hyperplasia
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Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids, and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. It is one of the most common autosomal recessive disorders in humans. Types CAH can occur in various forms. The clinical presentation of each form is different and depends to a large extent on the underlying enzyme defect, its precursor retention, and deficient products. Classical forms appear in infancy, and nonclassical forms appear in late childhood. The presentation in patients with classic CAH can be further subdivided into two forms: salt-wasting and simple-virilizing, depending ...
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Primary Aldosteronism
Primary aldosteronism (PA)'','' also known as primary hyperaldosteronism or Conn's syndrome, refers to the excess production of the hormone aldosterone from the adrenal glands, resulting in low renin levels and high blood pressure. This abnormality is caused by hyperplasia or tumors. Many experience fatigue, potassium deficiency and high blood pressure which may cause poor vision, confusion or headaches. Symptoms may also include: muscular aches and weakness, muscle spasms, low back and flank pain from the kidneys, trembling, tingling sensations, dizziness/vertigo, nocturia and excessive urination. Complications include cardiovascular disease such as stroke, myocardial infarction, kidney failure and abnormal heart rhythms. Primary hyperaldosteronism has a number of causes. About 33% of cases are due to an adrenal adenoma that produces aldosterone, and 66% of cases are due to an enlargement of both adrenal glands. Other uncommon causes include adrenal cancer and an inherited d ...
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Sex Steroid
Sex hormones, also known as sex steroids, gonadocorticoids and gonadal steroids, are steroid hormones that interact with vertebrate steroid hormone receptors. The sex hormones include the androgens, estrogens, and progestogens. Their effects are mediated by slow genomic mechanisms through nuclear receptors as well as by fast nongenomic mechanisms through membrane-associated receptors and signaling cascades. The polypeptide hormones luteinizing hormone, follicle-stimulating hormone and gonadotropin-releasing hormone – each associated with the gonadotropin axis – are usually not regarded as sex hormones, although they play major sex-related roles. Production Natural sex hormones are made by the gonads (ovaries or testes), by adrenal glands, or by conversion from other sex steroids in other tissue such as liver or fat. Image:Steroidogenesis.svg Image:Biosinthesis of steroid hormones (simplified version).jpg Image:Biosinthesis of steroid hormones (extended version).jpg Imag ...
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Ambiguous Genitalia
Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies". Sex assignment at birth usually aligns with a child's anatomical sex and phenotype. The number of births with ambiguous genitals is in the range of 1:2000–1:4500 (0.022%–0.05%). Other conditions involve atypical chromosomes, gonads, or hormones. Some persons may be assigned and raised as a girl or boy but then identify with another gender later in life, while most continue to identify with their assigned sex. The number of births where the baby is intersex has been reported differently depending on who reports and which definition of intersex is used. Anne Fausto-Sterling and her co-authors suggest that the prevalence of "nondimorphic sexual development" might be as high as 1.7%. A study publish ...
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Dehydration
In physiology, dehydration is a lack of total body water, with an accompanying disruption of metabolic processes. It occurs when free water loss exceeds free water intake, usually due to exercise, disease, or high environmental temperature. Mild dehydration can also be caused by immersion diuresis, which may increase risk of decompression sickness in divers. Most people can tolerate a 3-4% decrease in total body water without difficulty or adverse health effects. A 5-8% decrease can cause fatigue and dizziness. Loss of over ten percent of total body water can cause physical and mental deterioration, accompanied by severe thirst. Death occurs at a loss of between fifteen and twenty-five percent of the body water.Ashcroft F, Life Without Water in Life at the Extremes. Berkeley and Los Angeles, 2000, 134-138. Mild dehydration is characterized by thirst and general discomfort and is usually resolved with oral rehydration. Dehydration can cause hypernatremia (high levels of sodium ...
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Natriuresis
Natriuresis is the process of sodium excretion in the urine through the action of the kidneys. It is promoted by ventricular and atrial natriuretic peptides as well as calcitonin, and inhibited by chemicals such as aldosterone. Natriuresis lowers the concentration of sodium in the blood and also tends to lower blood volume because osmotic forces drag water out of the body's blood circulation and into the urine along with the sodium. Many diuretic drugs take advantage of this mechanism to treat medical conditions like hypernatremia and hypertension, which involve excess blood volume. Excess natriuresis can be caused by: *Medullary cystic disease *Bartter syndrome *Diuretic phase of acute tubular necrosis *Some diuretics *Primary renal diseases *Congenital adrenal hyperplasia *Syndrome of inappropriate antidiuretic hormone hypersecretion Endogenous natriuretic hormones include: * Atrial natriuretic peptide * Brain natriuretic peptide * C-type natriuretic peptide Natriuretic peptide ...
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Vomiting
Vomiting (also known as emesis and throwing up) is the involuntary, forceful expulsion of the contents of one's stomach through the mouth and sometimes the Human nose, nose. Vomiting can be the result of ailments like Food-poisoning, food poisoning, gastroenteritis, pregnancy, motion sickness, or hangover; or it can be an after effect of diseases such as brain tumors, elevated intracranial pressure, or overexposure to ionizing radiation. The feeling that one is about to vomit is called nausea; it often precedes, but does not always lead to vomiting. Impairment due to Alcoholic drink, alcohol or anesthesia can cause inhalation of vomit, leading to suffocation. In severe cases, where dehydration develops, intravenous fluid may be required. Antiemetics are sometimes necessary to suppress nausea and vomiting. Self-induced vomiting can be a component of an eating disorder such as bulimia nervosa, bulimia, and is itself now classified as an eating disorder on its own, purging di ...
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Polycystic Ovary Syndrome
Polycystic ovary syndrome, or PCOS, is the most common endocrine disorder in women of reproductive age. The syndrome is named after the characteristic cysts which may form on the ovaries, though it is important to note that this is a sign and not the underlying cause of the disorder. Women with PCOS may experience irregular menstrual periods, heavy periods, excess hair, acne, pelvic pain, difficulty getting pregnant, and patches of thick, darker, velvety skin. The primary characteristics of this syndrome include: hyperandrogenism, anovulation, insulin resistance, and neuroendocrine disruption. A review of the international evidence found that the prevalence of PCOS could be as high as 26% among some populations, though ranges between 4% and 18% are reported for general populations. Despite its high prevalence, the exact cause of PCOS remains uncertain and there is no known cure. Definition Two definitions are commonly used: * NIH : In 1990 a consensus workshop sponsore ...
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Acne
Acne, also known as ''acne vulgaris'', is a long-term Cutaneous condition, skin condition that occurs when Keratinocyte, dead skin cells and Sebum, oil from the skin clog hair follicles. Typical features of the condition include comedo, blackheads or whiteheads, pimples, oily skin, and possible scarring. It primarily affects skin with a relatively high number of sebaceous gland, oil glands, including the face, upper part of the chest, and back. The resulting appearance can lead to anxiety (mood), anxiety, reduced self-esteem, and, in extreme cases, clinical depression, depression or suicidal ideations, thoughts of suicide. Susceptibility to acne is primarily genetic in 80% of cases. The roles of diet and cigarette smoking in the condition are unclear, and neither hygiene, cleanliness nor exposure to sunlight appear to play a part. In both sexes, hormones called androgens appear to be part of the underlying mechanism, by causing increased production of sebum. Another common fac ...
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Virilization
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens. Virilization is most commonly used in three medical and biology of sex contexts: prenatal biological sexual differentiation, the postnatal changes of typical chromosomal male (46, XY) puberty, and excessive androgen effects in typical chromosomal females (46, XX). It is also the intended result of androgen replacement therapy in males with delayed puberty and low testosterone. Prenatal virilization In the prenatal period, virilization refers to closure of the perineum, thinning and wrinkling (rugation) of the scrotum, growth of the penis, and closure of the urethral groove to the tip of the penis. In this context, ''masculinization'' is synonymous with ''virilization.'' Prenatal virilization of genetic females and undervirilization of genetic males are common causes of ambiguous genitalia and inter ...
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Neonatal
An infant or baby is the very young offspring of human beings. ''Infant'' (from the Latin word ''infans'', meaning 'unable to speak' or 'speechless') is a formal or specialised synonym for the common term ''baby''. The terms may also be used to refer to juveniles of other organisms. A newborn is, in colloquial use, an infant who is only hours, days, or up to one month old. In medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after birth; the term applies to premature, full term, and postmature infants. Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, definitions may vary and may include children up to two years of age. When a human child learns to walk, they are called a toddler instead. Other uses In British English, an ''infant school'' is for children aged between four and seven. As a legal term, ''infancy'' is more lik ...
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Hypovolemia
Hypovolemia, also known as volume depletion or volume contraction, is a state of abnormally low extracellular fluid in the body. This may be due to either a loss of both salt and water or a decrease in blood volume. Hypovolemia refers to the loss of extracellular fluid and should not be confused with dehydration. Hypovolemia is caused by a variety of events, but these can be simplified into two categories: those that are associated with kidney function and those that are not. The signs and symptoms of hypovolemia worsen as the amount of fluid lost increases. Immediately or shortly after mild fluid loss (from blood donation, diarrhea, vomiting, bleeding from trauma, etc.), one may experience headache, fatigue, weakness, dizziness, or thirst. Untreated hypovolemia or excessive and rapid losses of volume may lead to hypovolemic shock. Signs and symptoms of hypovolemic shock include increased heart rate, low blood pressure, pale or cold skin, and altered mental status. When these ...
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Aldosterone
Aldosterone is the main mineralocorticoid steroid hormone produced by the zona glomerulosa of the adrenal cortex in the adrenal gland. It is essential for sodium conservation in the kidney, salivary glands, sweat glands, and colon. It plays a central role in the homeostatic regulation of blood pressure, plasma sodium (Na+), and potassium (K+) levels. It does so primarily by acting on the mineralocorticoid receptors in the distal tubules and collecting ducts of the nephron. It influences the reabsorption of sodium and excretion of potassium (from and into the tubular fluids, respectively) of the kidney, thereby indirectly influencing water retention or loss, blood pressure, and blood volume.Marieb Human Anatomy & Physiology 9th edition, chapter:16, page:629, question number:14 When dysregulated, aldosterone is pathogenic and contributes to the development and progression of cardiovascular and kidney disease. Aldosterone has exactly the opposite function of the atrial natriure ...
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