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Laron Dwarfism
Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin). It is usually caused by inherited growth hormone receptor (GHR) mutations. Affected individuals classically present with short stature between −4 and −10 standard deviations below median height, obesity, craniofacial abnormalities, micropenis, low blood sugar, and low serum IGF-1 despite elevated basal serum GH. LS is a very rare condition with a total of 250 known individuals worldwide. The genetic origins of these individuals have been traced back to Mediterranean, South Asian, and Semitic ancestors, with the latter group comprising the majority of cases. Molecular genetic testing for growth hormone receptor gene mutations confirms the diagnosis of LS, but clinical evaluation may include ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Hormone
Growth hormone (GH) or somatotropin, also known as human growth hormone (hGH or HGH) in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in human development. GH also stimulates production of insulin-like growth factor 1 (IGF-1) and increases the concentration of glucose and free fatty acids. It is a type of mitogen which is specific only to the receptors on certain types of cells. GH is a 191-amino acid, single-chain polypeptide that is synthesized, stored and secreted by somatotropic cells within the lateral wings of the anterior pituitary gland. A recombinant form of HGH called somatropin ( INN) is used as a prescription drug to treat children's growth disorders and adult growth hormone deficiency. In the United States, it is only available legally from pharmacies by prescription from a licensed health care provider. In recent years in the United States, some health ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypogonadism
Hypogonadism means diminished functional activity of the human gonad, gonads—the testicles or the ovary, ovaries—that may result in diminished biosynthesis, production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms in both males and females. Hypogonadism, commonly referred to by the symptom "low testosterone" or "low T", can also decrease other hormones secreted by the gonads including progesterone, dehydroepiandrosterone, DHEA, anti-Müllerian hormone, activin, and inhibin. Spermatogenesis, Sperm development (spermatogenesis) and ovulation, release of the egg from the ovaries (ovulation) may be impaired by hypogonadism, which, depending on the degree of severity, may result in partial or complete infertility. In January 2020, the American College of Physicians issued clinical guidelines for testosterone (medication), ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obesity
Obesity is a medical condition, considered by multiple organizations to be a disease, in which excess Adipose tissue, body fat has accumulated to such an extent that it can potentially have negative effects on health. People are classified as obese when their body mass index (BMI)—a person's weight divided by the square of the person's height—is over ; the range is defined as overweight. Some East Asian countries use lower values to calculate obesity. Obesity is a major cause of disability and is Obesity-associated morbidity, correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis. Obesity has individual, socioeconomic, and environmental causes. Some known causes are Western pattern diet, diet, low physical activity, automation, urbanization, quantitative trait locus, genetic susceptibility, medications, mental disorders, Economic policy, economic pol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mandible
In jawed vertebrates, the mandible (from the Latin ''mandibula'', 'for chewing'), lower jaw, or jawbone is a bone that makes up the lowerand typically more mobilecomponent of the mouth (the upper jaw being known as the maxilla). The jawbone is the skull's only movable, posable bone, sharing Temporomandibular joint, joints with the cranium's temporal bones. The mandible hosts the lower Human tooth, teeth (their depth delineated by the alveolar process). Many muscles attach to the bone, which also hosts nerves (some connecting to the teeth) and blood vessels. Amongst other functions, the jawbone is essential for chewing food. Owing to the Neolithic Revolution, Neolithic advent of agriculture (), human jaws evolved to be Human jaw shrinkage, smaller. Although it is the strongest bone of the facial skeleton, the mandible tends to deform in old age; it is also subject to Mandibular fracture, fracturing. Surgery allows for the removal of jawbone fragments (or its entirety) as well a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Bridge
The nasal bridge is the upper part of the nose, where the nasal bones and surrounding soft tissues provide structural support. While commonly discussed in human anatomy, nasal bridges exist in various forms across many vertebrates, particularly mammals. The shape, size, and function of the nasal bridge are influenced by evolutionary adaptations, playing a key role in Respiration (physiology), respiration, sense of smell, and thermoregulation. Anatomy Humans In humans, the nasal bridge is the elevated region of the human nose, nose between the eyes. It is primarily formed by the two small, oblong nasal bones, which meet at the midline to form the internasal suture. The nasal bridge extends from the nasal root, where the nose meets the forehead, to the lower edge of the nasal bones. Laterally, it reaches the inner canthi, the medial corners of the eyes, creating a saddle-shaped contour across the upper nose. The height and shape of the nasal bridge vary among individuals and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tall Stature
Human height or stature is the distance from the bottom of the feet to the top of the head in a human body, standing erect. It is measured using a stadiometer, in centimetres when using the metric system or SI system, or feet and inches when using United States customary units or the imperial system. In the early phase of anthropometric research history, questions about height measuring techniques for measuring nutritional status often concerned genetic differences. Height is also important because it is closely correlated with other health components, such as life expectancy. Studies show that there is a correlation between small stature and a longer life expectancy. Individuals of small stature are also more likely to have lower blood pressure and are less likely to acquire cancer. The University of Hawaii has found that the "longevity gene" FOXO3 that reduces the effects of aging is more commonly found in individuals of small body size. Short stature decreases the risk of Ch ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, and its behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gigantism
Gigantism (, ''gígas'', "wiktionary:giant, giant", plural γίγαντες, ''gígantes''), also known as giantism, is a condition characterized by excessive growth and height significantly above average height, average. In humans, this condition is caused by over-production of growth hormone in childhood. It is a rare disorder resulting from increased levels of growth hormone before the fusion of the Epiphyseal plate, growth plate which usually occurs at some point soon after puberty. This increase is most often due to abnormal tumor growths on the pituitary gland. Gigantism should not be confused with acromegaly, the adult form of the disorder, characterized by Somatic (biology), somatic enlargement specifically in the extremities and face. Cause Gigantism is characterized by an excess of growth hormone (GH). The excess of growth hormone that brings about gigantism is virtually always caused by pituitary growths (adenomas). These adenomas are on the Anterior pituitary, anteri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acromegaly
Acromegaly is a disorder that results in excess growth of certain parts of the human body. It is caused by excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There may also be an enlargement of the forehead, jaw, and nose. Other symptoms may include joint pain, thicker skin, deepening of the voice, headaches, and Visual impairment, problems with vision. Complications of the disease may include type 2 diabetes, sleep apnea, and high blood pressure. Signs and symptoms Features that may result from a high level of GH or expanding tumor include: * Headaches * Enlargement of the hands, feet, nose, lips, and ears, and a general thickening of the skin * Soft tissue swelling of internal organs, notably the heart with the attendant weakening of its muscularity, and the kidneys, also the vocal cords resulting in a characteristic thick, deep voice and slowing of speech * Generalized expansion of the skull at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Hormone Deficiency
Growth hormone deficiency (GHD), or hyposomatotropism, is a medical condition resulting from not enough growth hormone (GH). Generally the most noticeable symptom is that an individual attains a short height. Newborns may also present low blood sugar or a small penis size. In adults there may be decreased muscle mass, high cholesterol levels, or poor bone density. GHD can be present at birth or develop later in life. Causes may include genetics, trauma, infections, tumors, or radiation therapy. Genes that may be involved include '' GH1'', '' GHRHR'', or '' BTK''. In a third of cases no cause is apparent. The underlying mechanism generally involves problems with the pituitary gland. Some cases are associated with a lack of other pituitary hormones, in which case it is known as combined pituitary hormone deficiency. Diagnosis involves blood tests to measure growth hormone levels. Treatment is by growth hormone replacement using synthetic human growth hormone. The frequen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypothalamic–pituitary–somatotropic Axis
The hypothalamic–pituitary–somatotropic axis (HPS axis), or hypothalamic–pituitary–somatic axis, also known as the hypothalamic–pituitary–growth axis, is a hypothalamic–pituitary axis which includes the secretion of growth hormone (GH; somatotropin) from the somatotropes of the pituitary gland into the circulatory system, circulation and the subsequent stimulation of insulin-like growth factor 1 (IGF-1; somatomedin-1) biosynthesis, production by GH in tissue (biology), tissues such as, namely, the liver. Other hypothalamic–pituitary hormones such as growth hormone-releasing hormone (GHRH; somatocrinin), growth hormone-inhibiting hormone (GHIH; somatostatin), and ghrelin () are involved in the control of GH secretion from the pituitary gland. The HPS axis is involved in postnatal human development (biology), human growth. Individuals with growth hormone deficiency or Laron syndrome ( insensitivity) show symptoms like short stature, dwarfism and obesity, but are also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
