Kallman Syndrome
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Kallman Syndrome
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis. A range of other physical symptoms affecting the face, hands and skeletal system can also occur. The underlying cause is a failure in the correct production or activity of gonadotropin-releasing hormone by the hypothalamus. This results in low levels of the sex hormones testosterone in males or oestrogen and progesterone in females. Diagnosis normally occurs during teenage years when puberty fails ...
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Endocrinology
Endocrinology (from '' endocrine'' + '' -ology'') is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones. It is also concerned with the integration of developmental events proliferation, growth, and differentiation, and the psychological or behavioral activities of metabolism, growth and development, tissue function, sleep, digestion, respiration, excretion, mood, stress, lactation, movement, reproduction, and sensory perception caused by hormones. Specializations include behavioral endocrinology and comparative endocrinology. The endocrine system consists of several glands, all in different parts of the body, that secrete hormones directly into the blood rather than into a duct system. Therefore, endocrine glands are regarded as ductless glands. Hormones have many different functions and modes of action; one hormone may have several effects on different target organs, and, conversely, one target orga ...
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Testosterone
Testosterone is the primary sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testes and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of androgenic hair, body hair. In addition, testosterone in both sexes is involved in health and well-being, including moods, behaviour, and in the prevention of osteoporosis. Insufficient levels of testosterone in men may lead to abnormalities including frailty and bone loss. Testosterone is a steroid from the androstane class containing a ketone and a hydroxyl group at positions three and seventeen respectively. It is Biosynthesis, biosynthesized in several steps from cholesterol and is converted in the liver to inactive metabolites. It exerts its action through binding to and activation of the androgen receptor. In humans and most other vertebrates, testost ...
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Cryptorchidism
Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional. Cryptorchidism is distinct from monorchism, the condition of having only one testicle. Though the condition may occur on one or both sides, it more commonly affects the right testis. A testis absent from the normal scrotal position may be: # Anywhere along the "path of descent" from high in the posterior (retroperitoneal) abdomen, just below the kidney, to the inguinal ring ...
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Menstruation
Menstruation (also known as a period, among other colloquial terms) is the regular discharge of blood and mucosal tissue from the inner lining of the uterus through the vagina. The menstrual cycle is characterized by the rise and fall of hormones. Menstruation is triggered by falling progesterone levels and is a sign that pregnancy has not occurred. The first period, a point in time known as menarche, usually begins between the ages of 12 and 15. Menstruation starting as young as 8 years would still be considered normal. The average age of the first period is generally later in the developing world, and earlier in the developed world. The typical length of time between the first day of one period and the first day of the next is 21 to 45 days in young women. In adults, the range is between 21 and 31 days with the average being 28 days. Bleeding usually lasts around 2 to 7 days. Periods stop during pregnancy and typically do not resume during the initial months of breastfeed ...
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Amenorrhoea
Amenorrhea is the absence of a menstrual period in a woman of reproductive age. Physiological states of amenorrhoea are seen, most commonly, during pregnancy and lactation (breastfeeding). Outside the reproductive years, there is absence of menses during childhood and after menopause. Amenorrhoea is a symptom with many potential causes. Primary amenorrhea is defined as an absence of secondary sexual characteristics by age 13 with no menarche or normal secondary sexual characteristics but no menarche by 15 years of age. It may be caused by developmental problems, such as the congenital absence of the uterus, failure of the ovary to receive or maintain egg cells, or delay in pubertal development. Secondary amenorrhoea, ceasing of menstrual cycles after menarche, is defined as the absence of menses for three months in a woman with previously normal menstruation, or six months for women with a history of oligomenorrhoea. It is often caused by hormonal disturbances from the hypothalamu ...
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Reproductive Endocrinologist
Reproductive endocrinology and infertility (REI) is a surgical subspecialty of obstetrics and gynecology that trains physicians in reproductive medicine addressing hormonal functioning as it pertains to reproduction as well as the issue of infertility. While most REI specialists primarily focus on the treatment of infertility, reproductive endocrinologists are trained to also test and treat hormonal dysfunctions in females and males outside infertility. Reproductive endocrinologists have specialty training (residency) in obstetrics and gynecology (ob-gyn) before they undergo sub-specialty training (fellowship) in REI. Reproductive surgery is a related specialty, where a physician in ob-gyn or urology further specializes to operate on anatomical disorders that affect fertility. Certification In a number of countries, the pathway to become a subspecialist in REI is regulated. Thus, in the United States, for instance, the American Board of Obstetrics and Gynecology (ABOG) and Americ ...
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Jimmy Scott
James Victor Scott (July 17, 1925 – June 12, 2014), known professionally as Little Jimmy Scott or Jimmy Scott, was an American jazz vocalist known for his high natural contralto voice and his sensitivity on ballads and love songs. After success in the 1940s and 1950s, Scott's career faltered in the early 1960s. He slid into obscurity before a comeback in the 1990s. His unusual singing voice was due to Kallmann syndrome, a rare genetic disorder that limited his height to until the age of 37, when he grew by . The syndrome prevented him from reaching classic puberty and left him with a high voice and unusual timbre. Early life James Victor Scott was born on July 17, 1925, in Cleveland, Ohio, United States. The son of Arthur Claude Scott (born Chester Stewart) and Justine Hazel Stanard Scott, he was the third child in a family of 10. As a child he got his first singing experience by his mother's side at the family piano and later in church choir. At 13, he was orphaned when ...
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19 Year Old Kallmann Syndrome Patient, Pre-diagnosis
Nineteen or 19 may refer to: * 19 (number), the natural number following 18 and preceding 20 * one of the years 19 BC, AD 19, 1919, 2019 Films * ''19'' (film), a 2001 Japanese film * ''Nineteen'' (film), a 1987 science fiction film Music * 19 (band), a Japanese pop music duo Albums * ''19'' (Adele album), 2008 * ''19'', a 2003 album by Alsou * ''19'', a 2006 album by Evan Yo * ''19'', a 2018 album by MHD * ''19'', one half of the double album ''63/19'' by Kool A.D. * ''Number Nineteen'', a 1971 album by American jazz pianist Mal Waldron * ''XIX'' (EP), a 2019 EP by 1the9 Songs * "19" (song), a 1985 song by British musician Paul Hardcastle. * "Nineteen", a song by Bad4Good from the 1992 album ''Refugee'' * "Nineteen", a song by Karma to Burn from the 2001 album ''Almost Heathen''. * "Nineteen" (song), a 2007 song by American singer Billy Ray Cyrus. * "Nineteen", a song by Tegan and Sara from the 2007 album '' The Con''. * "XIX" (song), a 2014 song by Slipknot. ...
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Aureliano Maestre De San Juan
Aureliano Maestre de San Juan ( October 17, 1828 - June 1, 1890) was a Spanish scientist, histologist, physician and anatomist. He is credited as being one of the first scientists to recognize the disorder known as Kallmann syndrome. He died in 1890, having been blinded in a laboratory accident involving caustic soda two years earlier. See also * Kallmann syndrome Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypog ... References {{DEFAULTSORT:Maestre de San Juan, Aureliano 1828 births 1890 deaths Spanish anatomists Complutense University of Madrid alumni 19th-century Spanish physicians 19th-century Spanish scientists ...
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Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ...
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United States
The United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country primarily located in North America. It consists of 50 states, a federal district, five major unincorporated territories, nine Minor Outlying Islands, and 326 Indian reservations. The United States is also in free association with three Pacific Island sovereign states: the Federated States of Micronesia, the Marshall Islands, and the Republic of Palau. It is the world's third-largest country by both land and total area. It shares land borders with Canada to its north and with Mexico to its south and has maritime borders with the Bahamas, Cuba, Russia, and other nations. With a population of over 333 million, it is the most populous country in the Americas and the third most populous in the world. The national capital of the United States is Washington, D.C. and its most populous city and principal financial center is New York City. Paleo-Americ ...
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Germany
Germany,, officially the Federal Republic of Germany, is a country in Central Europe. It is the second most populous country in Europe after Russia, and the most populous member state of the European Union. Germany is situated between the Baltic and North seas to the north, and the Alps to the south; it covers an area of , with a population of almost 84 million within its 16 constituent states. Germany borders Denmark to the north, Poland and the Czech Republic to the east, Austria and Switzerland to the south, and France, Luxembourg, Belgium, and the Netherlands to the west. The nation's capital and most populous city is Berlin and its financial centre is Frankfurt; the largest urban area is the Ruhr. Various Germanic tribes have inhabited the northern parts of modern Germany since classical antiquity. A region named Germania was documented before AD 100. In 962, the Kingdom of Germany formed the bulk of the Holy Roman Empire. During the 16th ce ...
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