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Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a group of Genetic disorder#Autosomal recessive, autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the Biosynthesis, 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 sex characteristic, 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 fu ...
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Primary Aldosteronism
Primary aldosteronism (PA)'','' also known as primary hyperaldosteronism, 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 a paraneoplastic syndrome (i.e. caused by hyperplasia or tumors). About 35% of the cases are caused by a single aldosterone-secreting adenoma, a condition known as Conn's syndrome. Many patients experience fatigue, Hypokalemia, potassium deficiency and arterial hypertension, 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, paresthesia, tingling sensations, dizziness/vertigo, nocturia and excessive urination. Complications include cardiovascular disease such as stroke, myocardial infarction, kidney failure and Heart arrhythmia, abnormal heart rhythms. Primary hyperaldosteronism has a number of causes. Ab ...
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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. Certain polypeptide hormones including the 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 testicles), 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 ...
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Clitoromegaly
Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital; it is otherwise acquired through deliberately induced clitoral enlargement, a form of body modification, by use of anabolic steroids, in particular testosterone. It can happen as part of a gender transition. It is clinically distinguishable from normal enlargement of the clitoris seen during sexual arousal. Presentation Degree of genital ambiguity is commonly measured by the Prader classification, which ranges, in ascending order of masculinisation, from 1: ''female external genitalia with clitoromegaly'' through 5: ''pseudo-phallus looking like normal male external genitalia''. Causes Clitoromegaly is a rare condition and can be either present by birth or acquired later in life. If present at birth, congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is a group of Genetic disorder#Autosomal recessive, autosomal recessive disorders characterized by impaired ...
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Dehydration
In physiology, dehydration is a lack of total body water that disrupts metabolic processes. It occurs when free water loss exceeds intake, often resulting from excessive sweating, health conditions, or inadequate consumption of water. 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 10% of total body water can cause physical and mental deterioration, accompanied by severe thirst. Death occurs with a 15 and 25% loss of body water.Ashcroft F, Life Without Water in Life at the Extremes. Berkeley and Los Angeles, 2000, 134-138. Mild dehydration usually resolves with oral rehydration, but severe cases may need intravenous fluids. Dehydration can cause hypernatremia (high levels of sodium ions in the blood). This is distinct from hypovolemia ...
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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 Brain natriuretic peptide, 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 osmosis, osmotic forces drag water out of the body's systemic circulation, blood circulation and into the urine along with the sodium. Many diuretic medications, 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 ...
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Vomiting
Vomiting (also known as emesis, puking and throwing up) is the forceful expulsion of the contents of one's stomach through the mouth and sometimes the nose. Vomiting can be the result of ailments like 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 alcohol or anesthesia can cause inhalation of vomit. 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, and is itself now classified as an eating disorder on its own, purging disorder. Complications Aspiration Vomiting is dangerous if gastric content e ...
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Polycystic Ovary Syndrome
Polycystic ovary syndrome, or polycystic ovarian syndrome, (PCOS) is the most common endocrine disorder in women of reproductive age. The name is a misnomer, as not all women with this condition develop cysts on their ovaries. The name originated from the observation of cysts which form on the ovaries of some women with this condition. However, this is not a universal symptom and is not the underlying cause of the disorder. The primary characteristics of PCOS include hyperandrogenism, anovulation, insulin resistance, and neuroendocrinology, neuroendocrine disruption. Women may also experience Abnormal uterine bleeding, irregular menstrual periods, Menorrhagia, heavy periods, hirsutism, excess hair, acne, pelvic pain, infertility, difficulty getting pregnant, and patches of acanthosis nigricans, darker skin. Beyond its reproductive implications, PCOS is increasingly recognized as a multifactorial metabolic condition with significant long-term health consequences, including an ...
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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 lack of confidence, 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 are associated with acne. In both sexes, hormones called androgens appear to be part of the underlying mechanism, by causing increased production ...
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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 a medical term 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 XX fetuses and undervirilization of XY fetuses are common causes of ambiguous genitalia suc ...
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Neonatal
In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to Juvenile (organism), juveniles of other organisms. A newborn is, in colloquial use, a baby who is only hours, days, or weeks old; while in medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after Human birth, birth (the term applies to Preterm birth, premature, Pregnancy#Term, full term, and Postterm pregnancy, postmature infants). Infants born prior to 37 weeks of gestation are called "premature", those born between 39 and 40 weeks are "full term", those born through 41 weeks are "late term", and anything beyond 42 weeks is considered "post term". Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, defini ...
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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 Renal physiology, 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 Tachycardia, increased heart rate, Hypotension, low blood pressure, Pallor, pale or c ...
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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 nat ...
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