|
Familial Male-limited Precocious Puberty
Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. Signs of puberty can develop as early as an age of 1 year. The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant condition with a mutation of the luteinizing hormone (LH) receptor. As FMPP is a gonadotropin-independent form of precocious puberty, gonadotropin-releasing hormone agonists (GnRH agonists) are ineffective. Treatment is with drugs that suppress or block the effects of gonadal steroidogenesis, such as cyproterone acetate, ketoconazole, spironolactone, and testolactone. Alternatively, the combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used. Robert King Stone, personal physician to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the decedent, deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anastrozole
Anastrozole, sold under the brand name Arimidex among others, is a medication used in addition to other treatments for breast cancer. Specifically it is used for hormone receptor-positive breast cancer. It has also been used to prevent breast cancer in those at high risk. It is taken by mouth. Common side effects of anastrozole include hot flashes, altered mood, joint pain, and nausea. Severe side effects include an increased risk of heart disease and osteoporosis. Use during pregnancy may harm the baby. Anastrozole is in the aromatase-inhibiting family of medications. It works by blocking the production of estrogens in the body, and hence has antiestrogenic effects. Anastrozole was patented in 1987 and was approved for medical use in 1995. It is on the World Health Organization's List of Essential Medicines. Anastrozole is available as a generic medication. In 2020, it was the 180th most commonly prescribed medication in the United States, with more than 3million prescript ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leydig Cell Hypoplasia
Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 genetic males. It is characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testosterone and other androgen sex hormones. The condition manifests itself as pseudohermaphroditism (partially or fully underdeveloped genitalia), hypergonadotropic hypogonadism (decreased or lack of production of sex steroids by the gonads despite high circulating levels of gonadotropins), reduced or absent puberty (lack of development of secondary sexual characteristics, resulting in sexual infantilism if left untreated), and infertility. Leydig cell hypoplasia does not occur in biological females as they do not have either Leydig cells or testicles. However, the cause of the condition in males, l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Errors Of Steroid Metabolism
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism. Types A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include: Generalized * 20,22-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol * 3β-Hydroxysteroid dehydrogenase 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females * Combined 17α-hydroxylase/17,20-lyase deficiency: impairs progestogen metabolism; prevents androgen, estrogen, and glucocorticoid synthesis; causes mineralocorticoid excess * Cytochrome P450 oxidoreductase deficiency: prevents production of numerous but not all sex steroids, as well as other metabolic reactions Androgen- and estrogen-specific * Isolated 17,20-lyase ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperandrogenism
Hyperandrogenism is a medical condition characterized by high levels of androgens. It is more common in women than men. Symptoms of hyperandrogenism may include acne, seborrhea (inflamed skin), hair loss on the scalp, increased body or facial hair, and infrequent or absent menstruation. Complications may include high blood cholesterol and diabetes. It occurs in approximately 5% of women of reproductive age. Polycystic ovary syndrome accounts for about 70% of hyperandrogenism cases. Other causes include adrenal hyperplasia, hirsutism, insulin resistance, hyperprolactinemia, Cushing's disease, certain types of cancers, and certain medications. Diagnosis often involves blood tests for testosterone, 17-hydroxyprogesterone, and prolactin, as well as a pelvic ultrasound. Treatment depends on the underlying cause. Symptoms of hyperandrogenism can be treated with birth control pills or antiandrogens, such as cyproterone acetate or spironolactone. Other palliative measures may inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypergonadism
Hypergonadism is a condition where there is a hyperfunction of the gonads. It can manifest as precocious puberty, and is caused by abnormally high levels of testosterone or estrogen, crucial hormones for sexual development. In some cases, it may be caused by a tumor, which can be malignant, but is more commonly benign. Anabolic steroids may also be a major cause of high androgen and estrogen functional activity. Other possible causes include head injuries and brain inflammatory diseases. Hypergonadism may contribute to symptoms such as precocious puberty and abnormal facial hair growth in females. Symptoms Men and women exhibit different symptoms for hypergonadism. A few of the symptoms that men can experience are increased sex drive, early balding, excessive muscle mass, and acne. Women can have symptoms such as, increased growth of facial hair, deepened voice, coarse body hair, and an irregular menstrual cycle. See also * Hypergonadotropic hypergonadism * Hyperandrogenism and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonadotropin-releasing Hormone Insensitivity
Gonadotropin-releasing hormone (GnRH) insensitivity also known as Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare autosomal recessive genetic and endocrine syndrome which is characterized by inactivating mutations of the gonadotropin-releasing hormone receptor (GnRHR) and thus an insensitivity of the receptor to gonadotropin-releasing hormone (GnRH), resulting in a partial or complete loss of the ability of the gonads to synthesize the sex hormones. The condition manifests itself as isolated hypogonadotropic hypogonadism (IHH), presenting with symptoms such as delayed, reduced, or absent puberty, low or complete lack of libido, and infertility, and is the predominant cause of IHH when it does not present alongside anosmia. Signs and Symptoms There is a relatively broad spectrum of clinical signs and symptoms that can occur in, ranging from complete absence of sexual development to partial completion of puberty that does not subsequently progress. O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Follicle-stimulating Hormone Insensitivity
Follicle-stimulating hormone (FSH) insensitivity, or ovarian insensitivity to FSH in females, also referable to as ovarian follicle hypoplasia or granulosa cell hypoplasia in females, is a rare autosomal recessive genetic and endocrine syndrome affecting both females and males, with the former presenting with much greater severity of symptomatology. It is characterized by a resistance or complete insensitivity to the effects of follicle-stimulating hormone (FSH), a gonadotropin which is normally responsible for the stimulation of estrogen production by the ovaries in females and maintenance of fertility in both sexes. The condition manifests itself as hypergonadotropic hypogonadism (decreased or lack of production of sex steroids by the gonads despite high circulating levels of gonadotropins), reduced or absent puberty (lack of development of secondary sexual characteristics, resulting in sexual infantilism if left untreated), amenorrhea (lack of menstruation), and infertility in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elsevier
Elsevier () is a Dutch academic publishing company specializing in scientific, technical, and medical content. Its products include journals such as ''The Lancet'', ''Cell'', the ScienceDirect collection of electronic journals, '' Trends'', the '' Current Opinion'' series, the online citation database Scopus, the SciVal tool for measuring research performance, the ClinicalKey search engine for clinicians, and the ClinicalPath evidence-based cancer care service. Elsevier's products and services also include digital tools for data management, instruction, research analytics and assessment. Elsevier is part of the RELX Group (known until 2015 as Reed Elsevier), a publicly traded company. According to RELX reports, in 2021 Elsevier published more than 600,000 articles annually in over 2,700 journals; as of 2018 its archives contained over 17 million documents and 40,000 e-books, with over one billion annual downloads. Researchers have criticized Elsevier for its high profit marg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
