15 results found for "adrenal hyperplasia"
It is important to understand what congenital adrenal hyperplasia (CAH) is before the nature of 11 beta hydroxylase deficiency can be fully explained. CAH refers to any one of the many autosomal recessive illnesses that result from flaws in cortisol synthesis steps done by the adrenal glands. All of the types of CAH have either overproduction or malfunctioning of sex steroids. 11 beta hydroxylase deficiency is just one of the types of CAH and is a result of mutation in the gene called CYP11B1. This type is next only to 21-hydroxylase deficiency when it comes to its prevalence, comprising only 5-8% of the entire number of cases. [read more]
17 Alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids and glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. It is, therefore, an autosomal recessive condition. The absence or deficiency of 17 hydroxylase results into many sexual malformations and illnesses. [read more]
21-hydroxylase deficiency is also called as congenital adrenal hyperplasia and is a disorder that is often inherited. This disorder affects the adrenal glands which are located above the kidneys and these glands produce hormones that are responsible for regulating many important human body functions. The two hormones, cortisol and aldosterone, are produced by an enzyme called the 21-hydroxylase. Patients that have 21-hydroxylase deficiency lack the 21-hydroxylase enzyme which then affects the cholesterol conversion to aldosterone and cortisol. When the precursors of these two hormones are stored excessively in the adrenal glands, they are changed into androgens (which are male sex hormones). Whether the patient is male or female, growth development could be hampered because of this deficiency. [read more]
Congenital adrenal hyperplasia (CAH) generally refers to several autosomal recessive medical conditions that are results from some biochemical pathway of the steroidogenesis of the cortisol from cholesterol by the patient's adrenal glands. Majority of these conditions involve lesser or greater production of sex steroids and can also greatly alter the development of primary and secondary sex characteristics in affected individuals. [read more]
There are four types of congenital adrenal hypoplasia that have been recognized and they are the following: an X-linked type or the OMIM 300200 which is caused by a deletion or mutation of the AHCH gene or the DAX1 gene (found in the X chromosome dosage-receptive sex reversal adrenal hypoplasia congenital vital region). This type is often linked with hypogonadotropic hypogonadism. It might be a component of an adjacent deletion of chromosome (this may include congenital adrenal hypoplasia, OMIM 310200 or the Duchenne muscular dystrophy and OMIM 307030 or glyce3rol kinase deficiency; the second type is the autosomal recessive type and it is caused by a deletion or mutation of the gene which is responsible for coding for SF-1 or steroidogenic factor 1 on OMIM 184757 or chromosome 9q99. This type is also linked with hypogonadotropic hypogonadism; The third type is an autosomal recessive type. This type has a vague etiology (or OMIM 240200); The fourth type of adrenal hypoplasia which is linked with the retardation of intrauterine growths, genital defects, and metaphysical dysplasia is the OMIM 300290 or the IMAGe (intrauterine growth retardation, metaphysical dysplasia, adrenal hypoplasia congenital, genital defects) association. The X-linked type adrenal hypoplasia congenital is a disease which is mainly acquired by males. It usually involves several endocrine tissues of the body most especially the gmall glands above the kidneys or the adrenal glands. The characteristics that often manifest are a reduction in the function of the adrenal gland; hypoglycemia; dehydration, feeding difficulties; and shock. Other male patients might also be sexually underdeveloped. The females who are rarely affected also have adrenal insufficiency and a deficiency of sex hormones. [read more]
There are two classifications for adrenal insufficiency and they are: primary and secondary. The primary adrenal insufficiency happens when the adrenal gland dysfunctions. The secondary adrenal insufficiency which is also named central adrenal insufficiency happens there is a lack of CRH secretion or the corticotrophin-releasing hormone from the hypothalamus; or it could be the lack of ACTH secretion which is the corticotropic hormone from the pituitary. The second type leads to adrenal cortex hypofunction. Further classifications include acquired and congenital. [read more]
The more proper term for adrenogenital syndrome is congenital adrenal hyperplasia or CAH. This refers to numerous other autosomal recessive disor which result from biochemical paths of cortisol setoidogenesis from cholesterol done by the adrenal glands. Most number of these conditions could have lesser or greater sex steroid production and they can alter primary or secondary sex characteristic development among adults, children and infant patients. Only a few cases of people with CAH can be appropriated with intersex condition although this attracted the attention of the American public in the 90's and since then, there have been various accounts that have been circulated. It is estimated that 95% of CAH cases are caused by 21-hydroxylase deficiency. Conditions Caused by CAH The most common conditions that are caused by adrenogenital syndrome are: ambiguous genitals (in some female patients wherein it can be initially hard to know the exact sex of the infant); salt-wasting that causes vomiting (which may lead to dehydration and eventually?death); the early appearance of pubice or the occurrence failure or the delay of puberty (including sexual infantilism); too much facial hair; virilization; irregular menstrual periods during the adolescent stage; infertility caused by anovulation; and hypertension. [read more]
Ambiguous genitalia is a very rare medical condition in which the external genitals of the newborn do not clearly appear if it's a male or female usually because it is not properly formed. This may cause serious social stigma and question to the baby's gender. In most cases, it is important to wait to determine to true gender of the child. [read more]
Anovolution is a medical condition where by there is difficulty in ovulating thereby causing infertility. The ovary in this kind of medical condition fails to release egg which make her unable to conceive. [read more]
Congenital adrenal hyperplasia is characterized by a number of genetic conditions that directly affects the adrenal glands. This medical condition can significantly interfere with normal development and growth among children. This includes the normal development of the patient's genitals, both affecting men and women. [read more]
Cushing's Syndrome is also known by other medical terms such as hyperadrenocorticism and hypercortisolism, which is characterized as an endocrine disorder that is primarily caused by the high levels of cortisol in the patient's blood. There are a number of underlying causes and medical conditions that triggers Cushing's Syndrome such as ectopic adrenocorticotropic hormone, adrenal hyperplasia, and iatrogenic or use of steroid. This disease is also quite common among dogs and horses, often characterized as the deposition of fat in the body. [read more]
Hyperadrenalism, more commonly known as Cushing's Syndrome, is an endocrine abnormality marked by the presence of high cortisol levels in the blood. Hyperadrenalism is also often called hypercortisolism or hyperadrenocorticism. Its more familiar moniker, ?Cushing's Syndrome?, is attributed to Harvey Cushing, an American physician who is credited for its discovery and consequent study. According to the results of Cushing's studies, the disease is characterized by abnormal fat deposition. It also occurs commonly in dogs and domestic horses. In particular, Cushing's syndrome occurs when the adrenal cortex is invaded with a tumor and particularly deficient ACTH levels. [read more]
Hypoaldosteronism is a condition characterized by reduced levels of the hormone aldosterone. This condition may lead to a potentially serious disease called hyperkalemia. It can also led to hyponatremia. [read more]
Lipoid congenital adrenal hyperplasia is a kind of CAH brought about by defects during the first stages of adrenal cortisol synthesis. The disease commonly affects the adrenal glands and result to impaired development of sex characteristics. [read more]
Pseudovaginal perineoscrotal hypospadias (PPSH) is a abnormal configuration of an infant's external genitalia. The genitalia then appears to be a midway between a male's scrotum and a female's vagina. [read more]