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Macroorchidism
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. The condition is also a rare sign of the McCune-Albright syndrome. The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes. Macroorchidism is related to IGFS1 deficiency which causes an increase in the secretion of follicle stimulating hormone (FSH). There are other causes for macroorchidism such as hypothyroidism, local tumors, and aromatase deficiency. Macroorchidism can be diagnosed by measuring the testicular volume using a prader orchidometer. There is no cure for macroorchidism, however, medications are currently being tested and used to control the disorder to promote quality living. Signs and symptoms The most distinguishing physical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females. This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the ''FMR1'' (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing ( methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. Diagno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IGSF1
Immunoglobulin superfamily, member 1 is a plasma membrane glycoprotein encoded by the ''IGSF1'' gene, which maps to the X chromosome in humans and other mammalian species. Function IGSF1's function in normal cells is unresolved. The protein is a member of the immunoglobulin (Ig) superfamily. It was predicted to contain 12 Ig loops, a transmembrane domain, and a short cytoplasmic tail. However, during translation of the protein, it is cleaved into amino- and carboxy-terminal domains (NTD and CTD, respectively). Only the CTD is trafficked to the plasma membrane. The NTD is trapped within the endoplasmic reticulum (ER). Pathogenic mutations in the ''IGSF1'' gene block the transport of the CTD to the plasma membrane. Clinical relevance Mutations in ''IGSF1'' cause a condition called IGSF1 deficiency syndrome or central hypothyroidism/testicular enlargement (CHTE). The condition, which affects an estimated 1:100,000 people, is more common in males than females. Most affected ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microorchidism
Microorchidism is a genetic disorder found in males, characterized by abnormally small testes; it is the opposite of macroorchidism, which is characterized by abnormally large testes. The condition is associated with (and often secondary to) a number of other genetic disorders, including Klinefelter's Syndrome and Prader-Willi syndrome, as well as other multiple malformation disorders. The degree of abnormality (or otherwise) of the testes can be determined by the use of an orchidometer. In addition, Microorchidism may also occur as a result of shrinkage or atrophy of the testis due to infections like mumps. It is distinct from testicular atrophy caused as a result of hormone therapy or injury. See also * Endocrine system * Orchitis Orchitis is inflammation of the testes. It can also involve swelling, pains and frequent infection, particularly of the epididymis, as in epididymitis. The term is from the Ancient Greek ὄρχις meaning "testicle"; same root as ''orchid''. S . ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orchidometer
An orchidometer (or orchiometer) is a medical instrument used to measure the volume of the testicles. The orchidometer was introduced in 1966 by Swiss pediatric endocrinologist Andrea Prader of the University of Zurich. It consists of a string of twelve numbered wooden or plastic beads of increasing size from about 1 to 25 millilitres. Doctors sometimes informally refer to them as "Prader's balls", "the medical worry beads", or the "endocrine rosary". The beads are compared with the testicles of the patient, and the volume is read off the bead which matches most closely in size. Prepubertal sizes are 1–3 ml, pubertal sizes are considered 4 ml and up and adult sizes are 15-25 ml. The orchidometer can be used to accurately determine size of testes. Discrepancy of testicular size with other parameters of maturation can be an important clue to various diseases. Small testes can indicate either primary or secondary hypogonadism. Testicular size can help distinguish between differen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medication
A medication (also called medicament, medicine, pharmaceutical drug, medicinal drug or simply drug) is a drug used to diagnose, cure, treat, or prevent disease. Drug therapy (pharmacotherapy) is an important part of the medical field and relies on the science of pharmacology for continual advancement and on pharmacy for appropriate management. Drugs are classified in multiple ways. One of the key divisions is by level of control, which distinguishes prescription drugs (those that a pharmacist dispenses only on the order of a physician, physician assistant, or qualified nurse) from over-the-counter drugs (those that consumers can order for themselves). Another key distinction is between traditional small molecule drugs, usually derived from chemical synthesis, and biopharmaceuticals, which include recombinant proteins, vaccines, blood products used therapeutically (such as IVIG), gene therapy, monoclonal antibodies and cell therapy (for instance, stem cell therapies) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Quality Of Life
Quality of life (QOL) is defined by the World Health Organization as "an individual's perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards and concerns". Standard indicators of the quality of life include wealth, employment, the environment, physical and mental health, education, recreation and leisure time, social belonging, religious beliefs, safety, security and freedom. QOL has a wide range of contexts, including the fields of international development, healthcare, politics and employment. Health related QOL (HRQOL) is an evaluation of QOL and its relationship with health. Engaged theory One approach, called engaged theory, outlined in the journal of ''Applied Research in the Quality of Life'', posits four domains in assessing quality of life: ecology, economics, politics and culture. In the domain of culture, for example, it includes the following subdomains of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Signs And Symptoms
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pain or pains in the body. Signs and symptoms Signs A medical sign is an objective observable indication of a disease, injury, or abnormal physiological state that may be detected during a physical examination, examining the patient history, or diagnostic procedure. These signs are visible or otherwise detectable such as a rash or bruise. Medical signs, along with symptoms, assist in formulating diagnostic hypothesis. Examples of signs include elevated blood pressure, nail clubbing of the fingernails or toenails, staggering gait, and arcus senilis and arcus juvenilis of the eyes. Indicati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Percentile
In statistics, a ''k''-th percentile (percentile score or centile) is a score ''below which'' a given percentage ''k'' of scores in its frequency distribution falls (exclusive definition) or a score ''at or below which'' a given percentage falls (inclusive definition). For example, the 50th percentile (the median) is the score below which 50% of the scores in the distribution are found (by the "exclusive" definition), or at or below which 50% of the scores are found (by the "inclusive" definition). Percentiles are expressed in the same unit of measurement as the input scores; for example, if the scores refer to human weight, the corresponding percentiles will be expressed in kilograms or pounds. The percentile score and the '' percentile rank'' are related terms. The percentile rank of a score is the percentage of scores in its distribution that are less than it, an exclusive definition, and one that can be expressed with a single, simple formula. Percentile scores and perce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Confidence Interval
In frequentist statistics, a confidence interval (CI) is a range of estimates for an unknown parameter. A confidence interval is computed at a designated ''confidence level''; the 95% confidence level is most common, but other levels, such as 90% or 99%, are sometimes used. The confidence level represents the long-run proportion of corresponding CIs that contain the true value of the parameter. For example, out of all intervals computed at the 95% level, 95% of them should contain the parameter's true value. Factors affecting the width of the CI include the sample size, the variability in the sample, and the confidence level. All else being the same, a larger sample produces a narrower confidence interval, greater variability in the sample produces a wider confidence interval, and a higher confidence level produces a wider confidence interval. Definition Let be a random sample from a probability distribution with statistical parameter , which is a quantity to be estimate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urology
Urology (from Greek οὖρον ''ouron'' "urine" and '' -logia'' "study of"), also known as genitourinary surgery, is the branch of medicine that focuses on surgical and medical diseases of the urinary-tract system and the reproductive organs. Organs under the domain of urology include the kidneys, adrenal glands, ureters, urinary bladder, urethra, and the male reproductive organs (testes, epididymis, vas deferens, seminal vesicles, prostate, and penis). The urinary and reproductive tracts are closely linked, and disorders of one often affect the other. Thus a major spectrum of the conditions managed in urology exists under the domain of genitourinary disorders. Urology combines the management of medical (i.e., non-surgical) conditions, such as urinary-tract infections and benign prostatic hyperplasia, with the management of surgical conditions such as bladder or prostate cancer, kidney stones, congenital abnormalities, traumatic injury, and stress incontinence. Urologi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Puberty
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction. It is initiated by hormonal signals from the brain to the gonads: the ovaries in a girl, the testes in a boy. In response to the signals, the gonads produce hormones that stimulate libido and the growth, function, and transformation of the brain, bones, muscle, blood, skin, hair, breasts, and sex organs. Physical growth—height and weight—accelerates in the first half of puberty and is completed when an adult body has been developed. Before puberty, the external sex organs, known as primary sexual characteristics, are sex characteristics that distinguish boys and girls. Puberty leads to sexual dimorphism through the development of the secondary sex characteristics, which further distinguish the sexes. On average, girls begin puberty at ages 10–11 and complete puberty at ages 15–17; boys generally begin puberty at ages 11–12 and complete ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Preadolescence
Preadolescence is a stage of Human development (biology), human development following Child#Developmental_stages_of_childhood, middle childhood and preceding adolescence.New Oxford American Dictionary. 2nd Edition. 2005. Oxford University Press. It commonly ends with the beginning of puberty. Preadolescence is commonly defined as ages 9–12 ending with the major onset of puberty. It may also be defined as simply the 2-year period before the major onset of puberty. Preadolescence can bring its own challenges and anxiety, anxieties. Terminology A term used to refer to the preadolescent stage in everyday speech is tween and its perhaps older variants tweenie, tweeny, tweenager, and tweener. It's a blend (portmanteau) of the words "teen" and "between" in the sense of "between childhood and adolescence" and refers to 8-, 9-, or 10- to 12-year-olds. Sometimes the terms ''tweenie'' and ''tweenager'' are used to differentiate between older (10 to 15) and younger (7 to 11) age groups, r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
