Materiały źródłowe

• #1 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes responsible for producing glucocorticoids, mineralocorticoids, and sex steroids from cholesterol in the adrenal glands. […] Gene mutations that cause defects in steroidogenesis are classified as CAH and involve the following enzymes and proteins: 21-Hydroxylase (21-OH), 11-Hydroxylase (11-OH), 3-Hydroxysteroid dehydrogenase type-2 (3-HSD-2), 17-Hydroxylase/17,20-lyase (17-OH), P450 oxidoreductase (POR), Steroidogenic acute regulatory protein (StAR), Cholesterol side-chain cleavage enzyme (SCC). […] Defects in the CYP21A2 gene, which causes 21-OH deficiency, account for approximately 95% of cases. […] CAH can be divided into 2 types: classic and nonclassic depending on the severity of the variant and the degree of enzyme function loss. Classic (severe) CAH may present as simple virilizing CAH or salt-wasting CAH, typically diagnosed in infancy. In contrast, patients with nonclassic CAH, which presents with milder symptoms, may be asymptomatic, show mild virilization postnatally, or lead to features of polycystic ovary syndrome (PCOS) and infertility in adolescents and adult females.

• #2 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect your adrenal glands. […] The shortage or absence of an enzyme called 21-hydroxylase is the most common cause of CAH. Genetic mutations affect your levels of this enzyme. Less commonly, the absence of an enzyme called 11-hydroxylase causes CAH. […] CAH is an autosomal recessive disorder. You receive two copies of every gene in your body one from each parent. CAH occurs when you inherit a mutated copy of the gene that causes the deficiency from both of your parents.

• #3 Congenital adrenal hyperplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

  Congenital adrenal hyperplasia (CAH) is the medical name for a group of genetic conditions that affect the adrenal glands. […] The most common cause of CAH is the lack of the enzyme protein known as 21-hydroxylase. Sometimes, CAH is called 21-hydroxylase deficiency. The body needs this enzyme to make proper amounts of hormones. Very rarely, a lack of other much rarer enzymes also can cause CAH. […] CAH is a genetic condition. That means it’s passed from parents to children. It’s present at birth. Children with the condition have two parents who both carry the genetic change that causes CAH. Or they have two parents who have CAH themselves. This is known as the autosomal recessive inheritance pattern.

• #4 Congenital Adrenal Hyperplasia | Endocrine Society

  https://www.endocrine.org/patient-engagement/endocrine-library/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a genetic disorder in which the two adrenal glands (located at the top of the kidneys) do not function properly. CAH is caused by genetic defects in the proteins and enzymes involved in cortisol biosynthesis. The most common mutation is in the gene encoding the adrenal steroid 21-hydroxylase, which is an enzyme responsible for converting cholesterol to cortisol within the adrenal glands. Without this enzyme, the adrenal glands may produce too little cortisol and/or aldosterone and too much androgen. […] CAH is a type of inherited disorder, meaning a disorder that can be passed from parents to their children. It is an autosomal recessive disorder, meaning that affected children must inherit an abnormal copy of the gene from each of their parents in order for the child to have the disorder. Therefore, for a child to have CAH, each parent must either have CAH or carry an abnormal gene. One abnormal copy of the gene (a carrier) does not cause CAH. If two parents have the gene for CAH but not the disorder, then their children have a 25 percent chance of being born with CAH. Each sibling without CAH has two chances in three of being a carrier. Tests can be done to find out if someone is a carrier of CAH.

• #5 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes responsible for producing glucocorticoids, mineralocorticoids, and sex steroids from cholesterol in the adrenal glands. […] Gene mutations that cause defects in steroidogenesis are classified as CAH and involve the following enzymes and proteins: 21-Hydroxylase (21-OH), 11-Hydroxylase (11-OH), 3-Hydroxysteroid dehydrogenase type-2 (3-HSD-2), 17-Hydroxylase/17,20-lyase (17-OH), P450 oxidoreductase (POR), Steroidogenic acute regulatory protein (StAR), Cholesterol side-chain cleavage enzyme (SCC). […] Defects in the CYP21A2 gene, which causes 21-OH deficiency, account for approximately 95% of cases. […] CAH can be divided into 2 types: classic and nonclassic depending on the severity of the variant and the degree of enzyme function loss. Classic (severe) CAH may present as simple virilizing CAH or salt-wasting CAH, typically diagnosed in infancy. In contrast, patients with nonclassic CAH, which presents with milder symptoms, may be asymptomatic, show mild virilization postnatally, or lead to features of polycystic ovary syndrome (PCOS) and infertility in adolescents and adult females.

• #6 Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/919218-overview

  The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of congenital adrenal hyperplasia, accounting for more than 90% of cases. […] A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. […] The phenotype depends on the degree or type of gene deletion or mutation and the resultant deficiency of the steroidogenic enzyme. […] Two copies of an abnormal gene are required for disease to occur, and not all mutations and partial deletions result in disease.

• #7 Congenital adrenal hyperplasia – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

  Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. […] CAH results from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids, or sex steroids from cholesterol by the adrenal glands (steroidogenesis). […] Each form of CAH is associated with a specific defective gene. The most common type (95% of cases) involves the gene for 21-hydroxylase, which is found on 6p21.3 as part of the HLA complex; 21-hydroxylase deficiency results from a unique mutation with two highly homologous near-copies in series consisting of an active gene (CYP21A2) and an inactive pseudogene (CYP21A1P).

• #8 Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/919218-clinical

  The defects that cause congenital adrenal hyperplasia are autosomal recessive disorders that lead to deficient activity of a protein involved in cortisol synthesis, aldosterone synthesis, or both. […] In most cases, this disorder is due to a mutation or deletion of the gene that codes for the involved protein. […] Many of the genes involved in cortisol and aldosterone synthesis code for CYP proteins. […] The best-studied gene is the 21-hydroxylase gene (CYP21, CYP21A). […] The 21-hydroxylase gene is located on chromosomal band 6p21.3 among genes that code for proteins that determine human leukocyte antigen (HLA) types. […] Other defects occur because of gene deletions or mutations. […] Among abnormalities of CYP21A, approximately 95% are thought to be due to recombinations with CYP21P, 20% are thought to represent deletions, and 70% are point mutations.

• #9 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000411.htm

  Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. Inherited means the traits are passed down from parent to child. […] Most people with congenital adrenal hyperplasia (CAH) lack an enzyme called 21-hydroxylase. The adrenal glands need this enzyme to make enough cortisol and aldosterone. Because of low cortisol levels, the body stimulates the adrenal gland, which then produces more androgen. This results in an imbalance of these hormones. […] There are two main types of CAH that make up most of all cases: classic CAH and nonclassic CAH. […] Classic CAH is rarer and more serious. It is often found at birth or early infancy. The body makes too little aldosterone and cortisol and too much androgen. […] Nonclassic CAH is the mildest and most common form. The body produces enough aldosterone and cortisol, but too much androgen. It often is not diagnosed until later in childhood or adulthood. The person may not have any or only mild symptoms. […] Because this is a genetic condition, there is no way to prevent it. However, parents with a family history of CAH (of any type) or a child who has the condition should consider genetic counseling.

• #10

  https://step2.medbullets.com/endocrine/121784/congenital-adrenal-hyperplasia-cah

  refers to several disorders characterized by genetic defects in the proteins and enzymes involved in cortisol biosynthesis […] 21-hydroxylase deficiency is the most common form (over 95% of cases) […] decreased cortisol production (due to defective proteins/enzymes) releases the feedback inhibition of cortisol on the pituitary and increases the production of corticotropin (ACTH) […] high levels of ACTH causes adrenal hyperplasia, excessive accumulation of cortisol precursors, and/or overproduction of ACTH-dependent adrenal steroids within other pathways […] Defect of the CYP17A1 gene, leading to defective CYP17A1 enzyme, which catalyzes both the 17-hydroxylase and the 17,20-lyase reaction […] Leads to accumulation of cortisol precursor with mineralocorticoid activity […] Defects of the CYP21A2 gene leads to defective 21-hydroxylase enzyme, which is responsible for the conversion of 17-hydroxyprogesterone (17OHP) to 11-deoxycortisol

• #11 Congenital adrenal hyperplasia | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/congenital-adrenal-hyperplasia/

  In patients with congenital adrenal hyperplasia, the body recognises the lack of cortisol and therefore the pituitary gland in the brain sends chemical messengers to try to stimulate the adrenal glands to produce sufficient levels. However, because there is an enzyme defect, the adrenal glands cannot produce cortisol. This results in a blockage in the normal steroid production pathway and other steroids which are normally converted into cortisol accumulate. Several of these other steroids are similar to the male hormone, testosterone. An excess of male hormones leads to development of male characteristics (such as facial hair) and precocious (early) puberty. […] Congenital adrenal hyperplasia is an inherited condition through mutations in the genes that code for adrenal enzymes. It is a recessive disorder, which means that you need to inherit a mutation from both parents. Most parents who have a single gene mutation will not be affected by the condition; it is only when you inherit a mutation from both your mother and father that you develop the condition. There are a variety of mutations, some of which severely affect enzyme activity and others that have only a minor effect. Therefore, there is a variety of severities for the condition.

• #12 Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/919218-clinical

  The defects that cause congenital adrenal hyperplasia are autosomal recessive disorders that lead to deficient activity of a protein involved in cortisol synthesis, aldosterone synthesis, or both. […] In most cases, this disorder is due to a mutation or deletion of the gene that codes for the involved protein. […] Many of the genes involved in cortisol and aldosterone synthesis code for CYP proteins. […] The best-studied gene is the 21-hydroxylase gene (CYP21, CYP21A). […] The 21-hydroxylase gene is located on chromosomal band 6p21.3 among genes that code for proteins that determine human leukocyte antigen (HLA) types. […] Other defects occur because of gene deletions or mutations. […] Among abnormalities of CYP21A, approximately 95% are thought to be due to recombinations with CYP21P, 20% are thought to represent deletions, and 70% are point mutations.

• #13 Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/919218-clinical

  The defects that cause congenital adrenal hyperplasia are autosomal recessive disorders that lead to deficient activity of a protein involved in cortisol synthesis, aldosterone synthesis, or both. […] In most cases, this disorder is due to a mutation or deletion of the gene that codes for the involved protein. […] Many of the genes involved in cortisol and aldosterone synthesis code for CYP proteins. […] The best-studied gene is the 21-hydroxylase gene (CYP21, CYP21A). […] The 21-hydroxylase gene is located on chromosomal band 6p21.3 among genes that code for proteins that determine human leukocyte antigen (HLA) types. […] Other defects occur because of gene deletions or mutations. […] Among abnormalities of CYP21A, approximately 95% are thought to be due to recombinations with CYP21P, 20% are thought to represent deletions, and 70% are point mutations.

• #14 Congenital Adrenal Hyperplasia Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/919218-clinical

  The defects that cause congenital adrenal hyperplasia are autosomal recessive disorders that lead to deficient activity of a protein involved in cortisol synthesis, aldosterone synthesis, or both. […] In most cases, this disorder is due to a mutation or deletion of the gene that codes for the involved protein. […] Many of the genes involved in cortisol and aldosterone synthesis code for CYP proteins. […] The best-studied gene is the 21-hydroxylase gene (CYP21, CYP21A). […] The 21-hydroxylase gene is located on chromosomal band 6p21.3 among genes that code for proteins that determine human leukocyte antigen (HLA) types. […] Other defects occur because of gene deletions or mutations. […] Among abnormalities of CYP21A, approximately 95% are thought to be due to recombinations with CYP21P, 20% are thought to represent deletions, and 70% are point mutations.

• #15 Congenital Adrenal Hyperplasia | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816256/all/Congenital_Adrenal_Hyperplasia

  In simple virilizing CAH, there is a partial enzyme deficiency resulting in reduced cortisol and aldosterone production. […] In nonclassical CAH, there is a mild enzyme deficiency with normal cortisol and aldosterone levels, but there is a mild increase in adrenal androgen production. […] Mutations that result in large deletions or splicing that ablate enzyme activity result in salt-wasting CAH. […] Missense mutations with 12% enzyme activity correlate with simple virilizing CAH. […] Point mutations with 2060% enzyme activity correlate with the nonclassical disorder.

• #16 Congenital Adrenal Hyperplasia | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/816256/all/Congenital_Adrenal_Hyperplasia

  In simple virilizing CAH, there is a partial enzyme deficiency resulting in reduced cortisol and aldosterone production. […] In nonclassical CAH, there is a mild enzyme deficiency with normal cortisol and aldosterone levels, but there is a mild increase in adrenal androgen production. […] Mutations that result in large deletions or splicing that ablate enzyme activity result in salt-wasting CAH. […] Missense mutations with 12% enzyme activity correlate with simple virilizing CAH. […] Point mutations with 2060% enzyme activity correlate with the nonclassical disorder.

• #17 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes responsible for producing glucocorticoids, mineralocorticoids, and sex steroids from cholesterol in the adrenal glands. […] Gene mutations that cause defects in steroidogenesis are classified as CAH and involve the following enzymes and proteins: 21-Hydroxylase (21-OH), 11-Hydroxylase (11-OH), 3-Hydroxysteroid dehydrogenase type-2 (3-HSD-2), 17-Hydroxylase/17,20-lyase (17-OH), P450 oxidoreductase (POR), Steroidogenic acute regulatory protein (StAR), Cholesterol side-chain cleavage enzyme (SCC). […] Defects in the CYP21A2 gene, which causes 21-OH deficiency, account for approximately 95% of cases. […] CAH can be divided into 2 types: classic and nonclassic depending on the severity of the variant and the degree of enzyme function loss. Classic (severe) CAH may present as simple virilizing CAH or salt-wasting CAH, typically diagnosed in infancy. In contrast, patients with nonclassic CAH, which presents with milder symptoms, may be asymptomatic, show mild virilization postnatally, or lead to features of polycystic ovary syndrome (PCOS) and infertility in adolescents and adult females.

• #18 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls. […] Congenital adrenal hyperplasia is a genetic disorder. In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly. In order for a child to be born with CAH, both parents must be carriers of the mutated gene and pass it on to their baby. […] CAH caused by 21-hydroxylase deficiency can affect both boys and girls equally. One in 10,000 to 18,000 children are born with classical CAH, while the nonclassical form is much more common.

• #19 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000411.htm

  Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. Inherited means the traits are passed down from parent to child. […] Most people with congenital adrenal hyperplasia (CAH) lack an enzyme called 21-hydroxylase. The adrenal glands need this enzyme to make enough cortisol and aldosterone. Because of low cortisol levels, the body stimulates the adrenal gland, which then produces more androgen. This results in an imbalance of these hormones. […] There are two main types of CAH that make up most of all cases: classic CAH and nonclassic CAH. […] Classic CAH is rarer and more serious. It is often found at birth or early infancy. The body makes too little aldosterone and cortisol and too much androgen. […] Nonclassic CAH is the mildest and most common form. The body produces enough aldosterone and cortisol, but too much androgen. It often is not diagnosed until later in childhood or adulthood. The person may not have any or only mild symptoms. […] Because this is a genetic condition, there is no way to prevent it. However, parents with a family history of CAH (of any type) or a child who has the condition should consider genetic counseling.

• #20 Classic Congenital Adrenal Hyperplasia: Causes, Symptoms, Treatments

  https://www.webmd.com/children/classic-congenital-adrenal-hyperplasia-causes-symptoms-treatments

  CAH is a condition in which a gene that tells the body how to make an enzyme called 21-hydroxylase, which helps make cortisol and aldosterone, doesn’t work properly. For you to have CAH, both of your parents need to carry the faulty gene and pass it on to you. […] There are different types of congenital adrenal hyperplasia, including one called classic CAH. While its less common than the other types, its more serious and can be deadly if left untreated. […] Salt-wasting CAH. With this most serious form of CAH, the adrenal glands dont make enough aldosterone. Low levels of the hormone throw off your bodys sodium (salt) levels, causing you to lose too much sodium when you pee. This can lead to dehydration and even death. […] Simple virilizing CAH. This form of CAH also affects aldosterone, cortisol, and androgen, but the hormone imbalance is more moderate than with salt-wasting CAH.

• #21 Congenital Adrenal Hyperplasia – National Adrenal Diseases Foundation

  https://www.nadf.us/congenital-adrenal-hyperplasia-cah.html

  There are two types of CAH classic, which can be life threatening, and nonclassic, a milder form of the disorder. […] Classic CAH, usually first found in infancy or early childhood, is the most severe type of CAH. […] If not found and treated, classic CAH can cause shock, coma, and death. […] In many cases, female infants are diagnosed at birth because they have atypical or ambiguous genitalia (external sex organs that resemble male genitals). […] Any infant, boy or girl, who is not diagnosed and treated appropriately at birth, may have vomiting, weight loss, dehydration, shock, and even death. […] The goals of treatment are to help maintain balanced hormone levels and promote normal growth in children. […] People with classic CAH need medicines called glucocorticoids to replace the cortisol their bodies cant make.

• #22 Classic Congenital Adrenal Hyperplasia: Causes, Symptoms, Treatments

  https://www.webmd.com/children/classic-congenital-adrenal-hyperplasia-causes-symptoms-treatments

  CAH is a condition in which a gene that tells the body how to make an enzyme called 21-hydroxylase, which helps make cortisol and aldosterone, doesn’t work properly. For you to have CAH, both of your parents need to carry the faulty gene and pass it on to you. […] There are different types of congenital adrenal hyperplasia, including one called classic CAH. While its less common than the other types, its more serious and can be deadly if left untreated. […] Salt-wasting CAH. With this most serious form of CAH, the adrenal glands dont make enough aldosterone. Low levels of the hormone throw off your bodys sodium (salt) levels, causing you to lose too much sodium when you pee. This can lead to dehydration and even death. […] Simple virilizing CAH. This form of CAH also affects aldosterone, cortisol, and androgen, but the hormone imbalance is more moderate than with salt-wasting CAH.

• #23 Congenital Adrenal Hyperplasia – National Adrenal Diseases Foundation

  https://www.nadf.us/congenital-adrenal-hyperplasia-cah.html

  Nonclassic CAH is mild and not life threatening. Signs and symptoms might not appear until childhood or adulthood. […] Some patients have no symptoms and require no treatment. Others need low-dose glucocorticoids but might not need life-long treatment. Nonclassic CAH is not associated with genital abnormalities at birth and is not detected in most newborn screening programs. […] With proper care, people with either type of CAH can live long and healthy lives.

• #24 Congenital Adrenal Hyperplasia: Not Really a Zebra | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0301/p1190.html

  Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis. Both classic and nonclassic forms of the disease are caused by deficiencies in the adrenal enzymes that are used to synthesize glucocorticoids. […] The condition is caused by a deficient synthesis of cortisol; most cases are related to 21-hydroxylase or 11-hydroxylase deficiency. […] The hallmark of congenital adrenal hyperplasia is inadequate production of glucocorticoids. […] Ninety percent of patients with congenital adrenal hyperplasia have 21-hydroxylase deficiency. […] Deficiency of 11-hydroxylase is found in 8 to 9 percent of patients with congenital adrenal hyperplasia.

• #25 Congenital adrenal hyperplasia – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

  About 5% of cases of CAH are due to defects in the gene encoding 11-hydroxylase and consequent 11-hydroxylase deficiency. Other, more rare forms of CAH are caused by mutations in genes, including HSD3B2 (3-hydroxysteroid dehydrogenase 2), CYP17A1 (17-hydroxylase/17,20-lyase), CYP11A1 (P450scc; cholesterol side-chain cleavage enzyme), STAR (steroidogenic acute regulatory protein; StAR), CYB5A (cytochrome b5), and CYPOR (cytochrome P450 oxidoreductase; POR).

• #26 Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/rare-types-of-congenital-adrenal-hyperplasias-other-than-21-hydroxylase-deficiency/doi/jcrpe.galenos.2024.2024-6-21-S

  Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), other rare causes of CAH such as 11-beta-hydroxylase deficiency (11-OHD), 3-beta-hydroxy steroid dehydrogenase (3-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. […] 11-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. […] 3-HSD deficiency, with an incidence of less than 1/1,000,000 live births, is characterized by impairment of both adrenal and gonadal steroid biosynthesis very early in life, with inadequate virilization in boys and varying degrees of virilization in girls.

• #27 Congenital adrenal hyperplasia | Causes, Symptoms & Treatment | Britannica

  https://www.britannica.com/science/congenital-adrenal-hyperplasia

  The most common type of congenital adrenal hyperplasia is deficiency of 21-hydroxylase, an enzyme that catalyzes the next-to-last step in the synthesis of cortisol. […] Other, rarer forms of congenital adrenal hyperplasia result in varying degrees of hypertension or lack of sexual development, depending on the particular enzyme that is defective. Deficiency of 11-hydroxylase, an enzyme that catalyzes the last step in the synthesis of cortisol, leads to virilization and hypertension, the latter of which is caused by excess production of deoxycorticosterone, a mineralocorticoid similar to aldosterone. Deficiency of 17-hydroxylase leads to deficiency of estrogens and androgens and to excess deoxycorticosterone, causing sexual infantilism and hypertension. […] Congenital adrenal hyperplasia also occurs in adolescents and adults, in which case it is referred to as late-onset congenital adrenal hyperplasia.

• #28 Congenital Adrenal Hyperplasia: Not Really a Zebra | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0301/p1190.html

  Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis. Both classic and nonclassic forms of the disease are caused by deficiencies in the adrenal enzymes that are used to synthesize glucocorticoids. […] The condition is caused by a deficient synthesis of cortisol; most cases are related to 21-hydroxylase or 11-hydroxylase deficiency. […] The hallmark of congenital adrenal hyperplasia is inadequate production of glucocorticoids. […] Ninety percent of patients with congenital adrenal hyperplasia have 21-hydroxylase deficiency. […] Deficiency of 11-hydroxylase is found in 8 to 9 percent of patients with congenital adrenal hyperplasia.

• #29 Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/rare-types-of-congenital-adrenal-hyperplasias-other-than-21-hydroxylase-deficiency/doi/jcrpe.galenos.2024.2024-6-21-S

  Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), other rare causes of CAH such as 11-beta-hydroxylase deficiency (11-OHD), 3-beta-hydroxy steroid dehydrogenase (3-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. […] 11-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. […] 3-HSD deficiency, with an incidence of less than 1/1,000,000 live births, is characterized by impairment of both adrenal and gonadal steroid biosynthesis very early in life, with inadequate virilization in boys and varying degrees of virilization in girls.

• #30 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Defects in StAR impair the synthesis of all steroids due to its role at the proximal site in steroidogenesis. […] Similarly, mutations in SCC are indistinguishable from StAR defects because they occur near the site of StAR’s action. […] Defects in 3-HSD-2 impair the conversion of pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA) to progesterone, 17-OHP, and androstenedione, respectively, leading to defective synthesis of cortisol, aldosterone, and androgens. […] Additionally, deficiencies in 11-OH and 17-OH result in the accumulation of mineralocorticoid precursors, causing hypertension and cortisol deficiency in affected individuals. […] Cytochrome P450 oxidoreductase (POR) defects lead to variable clinical presentations, as cytochrome P450 has a role in 21-hydroxylation, 17-hydroxylation, and the aromatization of androgens to estrogens.

• #31 Congenital adrenal hyperplasia | Causes, Symptoms & Treatment | Britannica

  https://www.britannica.com/science/congenital-adrenal-hyperplasia

  The most common type of congenital adrenal hyperplasia is deficiency of 21-hydroxylase, an enzyme that catalyzes the next-to-last step in the synthesis of cortisol. […] Other, rarer forms of congenital adrenal hyperplasia result in varying degrees of hypertension or lack of sexual development, depending on the particular enzyme that is defective. Deficiency of 11-hydroxylase, an enzyme that catalyzes the last step in the synthesis of cortisol, leads to virilization and hypertension, the latter of which is caused by excess production of deoxycorticosterone, a mineralocorticoid similar to aldosterone. Deficiency of 17-hydroxylase leads to deficiency of estrogens and androgens and to excess deoxycorticosterone, causing sexual infantilism and hypertension. […] Congenital adrenal hyperplasia also occurs in adolescents and adults, in which case it is referred to as late-onset congenital adrenal hyperplasia.

• #32 Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/rare-types-of-congenital-adrenal-hyperplasias-other-than-21-hydroxylase-deficiency/doi/jcrpe.galenos.2024.2024-6-21-S

  Patients with LCAH, which develops due to steroidogenic acute regulatory protein deficiency, typically present with salt wasting in the first year of life. It is characterized by complete or near-complete deficiency of adrenal and gonadal steroid hormones and progressive accumulation of cholesterol esters in the adrenal gland. […] 17-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare autosomal recessive form of CAH caused by biallelic mutations in the CYP17A1 gene, and accounts for 1% of all CAH forms. […] LCAH is characterized by adrenal hyperplasia marked by complete or almost complete deficiency of adrenal and gonadal steroid hormones, increased ACTH secretion, and progressive cholesterol ester accumulation.

• #33 Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/rare-types-of-congenital-adrenal-hyperplasias-other-than-21-hydroxylase-deficiency/doi/jcrpe.galenos.2024.2024-6-21-S

  Patients with LCAH, which develops due to steroidogenic acute regulatory protein deficiency, typically present with salt wasting in the first year of life. It is characterized by complete or near-complete deficiency of adrenal and gonadal steroid hormones and progressive accumulation of cholesterol esters in the adrenal gland. […] 17-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare autosomal recessive form of CAH caused by biallelic mutations in the CYP17A1 gene, and accounts for 1% of all CAH forms. […] LCAH is characterized by adrenal hyperplasia marked by complete or almost complete deficiency of adrenal and gonadal steroid hormones, increased ACTH secretion, and progressive cholesterol ester accumulation.

• #34 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Defects in StAR impair the synthesis of all steroids due to its role at the proximal site in steroidogenesis. […] Similarly, mutations in SCC are indistinguishable from StAR defects because they occur near the site of StAR’s action. […] Defects in 3-HSD-2 impair the conversion of pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA) to progesterone, 17-OHP, and androstenedione, respectively, leading to defective synthesis of cortisol, aldosterone, and androgens. […] Additionally, deficiencies in 11-OH and 17-OH result in the accumulation of mineralocorticoid precursors, causing hypertension and cortisol deficiency in affected individuals. […] Cytochrome P450 oxidoreductase (POR) defects lead to variable clinical presentations, as cytochrome P450 has a role in 21-hydroxylation, 17-hydroxylation, and the aromatization of androgens to estrogens.

• #35 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Defects in StAR impair the synthesis of all steroids due to its role at the proximal site in steroidogenesis. […] Similarly, mutations in SCC are indistinguishable from StAR defects because they occur near the site of StAR’s action. […] Defects in 3-HSD-2 impair the conversion of pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA) to progesterone, 17-OHP, and androstenedione, respectively, leading to defective synthesis of cortisol, aldosterone, and androgens. […] Additionally, deficiencies in 11-OH and 17-OH result in the accumulation of mineralocorticoid precursors, causing hypertension and cortisol deficiency in affected individuals. […] Cytochrome P450 oxidoreductase (POR) defects lead to variable clinical presentations, as cytochrome P450 has a role in 21-hydroxylation, 17-hydroxylation, and the aromatization of androgens to estrogens.

• #36 What causes congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/causes

  CAH is caused by changes (mutations) in one of several genes. These changes lead to deficiencies in 21-hydroxylase or, less commonly, 11-hydroxylase. […] The genes for CAH are passed down from parents to their children. In general, people have two copies of every gene in their bodies. They receive one copy from each parent. For an infant to have CAH, both copies must have an error that affects an adrenal-gland enzyme. […] If both parents have CAH, all of their children will also have it. If each parent carries one affected gene and one normal gene (called a „carrier”), there is a one-in-four chance of their child having CAH.

• #37 Congenital adrenal hyperplasia | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/congenital-adrenal-hyperplasia

  Without a working CYP21A2 gene, 21-hydroxylase cannot make enough cortisol and aldosterone in your baby’s body. Androgens build up in their body. This hormone imbalance can damage the body and change the way it develops. […] CAH is a genetic condition. Babies inherit it from their biological (birth) parents. […] CAH is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking CYP21A2 gene to their baby. Only babies with two nonworking CYP21A2 genes—one from the mom and one from the dad—have this condition.

• #38 Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/919218-overview

  The most common form of congenital adrenal hyperplasia is due to mutations or deletions of CYP21A, resulting in 21-hydroxylase deficiency. This deficiency accounts for more than 90% of adrenal hyperplasia cases. […] Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations and deletions is particularly common among the Yupik Eskimos.

• #39 Congenital Adrenal Hyperplasia: Not Really a Zebra | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0301/p1190.html

  Classic congenital adrenal hyperplasia is rare, affecting only one in 14,000 patients, but mild forms of the disease may occur in one of every 100 to 1,000 persons. […] The incidence of classic congenital adrenal hyperplasia is especially high in Madagascar and certain areas of Alaska. Mild congenital adrenal hyperplasia occurs more frequently in Ashkenazi Jews, and in Hispanic, Slavic and Italian populations. […] When mild congenital adrenal hyperplasia is suspected, elevated serum levels of 17-hydroxyprogesterone suggest 21-hydroxylase deficiency, and elevated deoxycorticosterone/11-deoxycortisol levels suggest 11-hydroxylase deficiency. […] If one child in a family is already affected by congenital adrenal hyperplasia, the HLA haplotypes of the parents and the affected child should be determined. Subsequent pregnancies can then be accurately evaluated for congenital adrenal hyperplasia by HLA haplotype analysis of chorionic villus or amniotic cells.

• #40 Congenital Adrenal Hyperplasia (CAH) | Texas Children’s

  https://www.texaschildrens.org/content/conditions/congenital-adrenal-hyperplasia-cah

  Congenital adrenal hyperplasia is caused by a genetic defect that prevents the body’s adrenal glands from working properly. As a result, the body may produce too much of a male sex hormone known as androgen. […] If both parents have congenital adrenal hyperplasia or both are carriers of the genetic mutation that causes the disease, the child is at increased risk of having the condition. […] Ashkenazi Jews, Hispanics, Yugoslavs and Eskimos are also more likely to develop this disorder.

• #41 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes responsible for producing glucocorticoids, mineralocorticoids, and sex steroids from cholesterol in the adrenal glands. […] Gene mutations that cause defects in steroidogenesis are classified as CAH and involve the following enzymes and proteins: 21-Hydroxylase (21-OH), 11-Hydroxylase (11-OH), 3-Hydroxysteroid dehydrogenase type-2 (3-HSD-2), 17-Hydroxylase/17,20-lyase (17-OH), P450 oxidoreductase (POR), Steroidogenic acute regulatory protein (StAR), Cholesterol side-chain cleavage enzyme (SCC). […] Defects in the CYP21A2 gene, which causes 21-OH deficiency, account for approximately 95% of cases. […] CAH can be divided into 2 types: classic and nonclassic depending on the severity of the variant and the degree of enzyme function loss. Classic (severe) CAH may present as simple virilizing CAH or salt-wasting CAH, typically diagnosed in infancy. In contrast, patients with nonclassic CAH, which presents with milder symptoms, may be asymptomatic, show mild virilization postnatally, or lead to features of polycystic ovary syndrome (PCOS) and infertility in adolescents and adult females.

• #42 Congenital Adrenal Hyperplasia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-adrenal-hyperplasia

  Congenital Adrenal Hyperplasia (CAH) is a condition of the adrenal glands that people are born with. […] CAH results when the adrenal glands cannot make one or more of these hormones. Most commonly, the adrenal glands cannot make enough cortisol and aldosterone and make too much androgen. […] People with CAH are born with an enzyme that is missing or not working properly. Enzymes are proteins that cause chemical changes. The adrenal glands need enzymes to make hormones from their building blocks. In the most common type of CAH, the enzyme 21-hydroxylase is missing or not working. […] If the enzyme is missing or not working at all, the adrenal gland cannot make cortisol or aldosterone from their building blocks. […] If the enzyme cannot change the building blocks into cortisol and aldosterone, they get changed into more androgen instead.

• #43 Congenital Adrenal Hyperplasia (CAH): Causes and Symptoms

  https://www.massgeneral.org/children/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a genetic condition that affects the adrenal glands. […] Congenital adrenal hyperplasia (CAH) is an inherited (genetic) condition that affects the adrenal glands. […] In CAH, the adrenal glands are missing part of or all an enzyme (typically 21-hydroxylase). This enzyme helps make cortisol. […] Because of the missing enzyme and the low cortisol level, the pituitary gland in the brain makes higher amounts of another hormone called ACTH, which tries to push the adrenal gland to make more cortisol. […] The high androgen levels can cause changes in the genital area.

• #44 Congenital Adrenal Hyperplasia: Causes and Treatment

  https://patient.info/hormones/congenital-adrenal-hyperplasia-leaflet

  Congenital adrenal hyperplasia is an inherited (genetic) condition causing swelling of the adrenal glands. The condition is associated with a decrease in the blood level of a hormone called cortisol and an increase in the level of male sex hormones (androgens) in both sexes. […] In CAH there is a blockage in the assembly line that makes cortisol from the precursors. So, the blood level of cortisol is low, and there is never enough cortisol produced to slow the release of ACTH. This means the adrenal glands are constantly stimulated, causing an overgrowth of the adrenal gland (hence, the term hyperplasia). […] The blockage may also cause aldosterone production to be reduced. A drop in the level of this hormone can have an effect on the salt level in the bloodstream.

• #45 Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia | Scientific Reports

  https://www.nature.com/articles/s41598-021-95642-y

  Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. […] A novel nonsense variant (c.265CT) was identified in the NR0B1 gene, which caused the premature termination of DAX-1 at residue 89 (p.G89*). […] Specific variants of the NR0B1 gene (the coding gene for the DAX-1 [dosage sensitive sex-reversal, adrenal hypoplasia locus on the X-chromosome, gene 1] protein), including point variants and delete variants, have been shown to cause X-linked CAH. […] In the present study, we clinically examined a 24-year-old male affected with CAH from a three-generation family and identified a novel nonsense variant of the NR0B1 gene via next-generation sequencing (NGS).

• #46 Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia | Scientific Reports

  https://www.nature.com/articles/s41598-021-95642-y

  Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. […] A novel nonsense variant (c.265CT) was identified in the NR0B1 gene, which caused the premature termination of DAX-1 at residue 89 (p.G89*). […] Specific variants of the NR0B1 gene (the coding gene for the DAX-1 [dosage sensitive sex-reversal, adrenal hypoplasia locus on the X-chromosome, gene 1] protein), including point variants and delete variants, have been shown to cause X-linked CAH. […] In the present study, we clinically examined a 24-year-old male affected with CAH from a three-generation family and identified a novel nonsense variant of the NR0B1 gene via next-generation sequencing (NGS).

• #47 Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia | Scientific Reports

  https://www.nature.com/articles/s41598-021-95642-y

  This novel variant was not reported in other studies. Additionally, this mutation was evaluated to be causative for CAH formation. […] The loss of DAX-1 function triggered by this NR0B1 variant caused disordered expression of genes involved in energy homeostasis and steroidogenesis, which may lead to abnormal adrenal development and finally CAH. […] Our data provide novel insights into the potential mechanism of CAH formation caused by this nonsense variant.

• #48 UNDERSTANDING CONGENITAL ADRENAL HYPERPLASIA: CAUSES, SYMPTOMS, AND MANAGEMENT | Mya Care

  https://myacare.com/blog/understanding-congenital-adrenal-hyperplasia-causes-symptoms-and-management

  Gene therapy involves modifying the genetic material within cells to correct the underlying genetic mutations responsible for CAH. Scientists are developing strategies to introduce functional copies of the affected genes into the cells, enabling them to produce the necessary enzymes to regulate hormone production.

• #49 Newborn screening information for congenital adrenal hyperplasia | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a collection of inherited conditions that affect the body’s adrenal glands, which are the cone-shaped organs that sit on top of the kidneys. […] The enzyme 21-hydroxylase (21-OH) helps the adrenal glands make cortisol and aldosterone. In 95% of congenital adrenal hyperplasia (CAH) cases, the body does not make enough 21-OH enzymes. […] CAH is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for CAH, one from each parent, in order to have the condition.

• #50 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000411.htm

  Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. Inherited means the traits are passed down from parent to child. […] Most people with congenital adrenal hyperplasia (CAH) lack an enzyme called 21-hydroxylase. The adrenal glands need this enzyme to make enough cortisol and aldosterone. Because of low cortisol levels, the body stimulates the adrenal gland, which then produces more androgen. This results in an imbalance of these hormones. […] There are two main types of CAH that make up most of all cases: classic CAH and nonclassic CAH. […] Classic CAH is rarer and more serious. It is often found at birth or early infancy. The body makes too little aldosterone and cortisol and too much androgen. […] Nonclassic CAH is the mildest and most common form. The body produces enough aldosterone and cortisol, but too much androgen. It often is not diagnosed until later in childhood or adulthood. The person may not have any or only mild symptoms. […] Because this is a genetic condition, there is no way to prevent it. However, parents with a family history of CAH (of any type) or a child who has the condition should consider genetic counseling.

• #51 Congenital Adrenal Hyperplasia: Not Really a Zebra | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0301/p1190.html

  Classic congenital adrenal hyperplasia is rare, affecting only one in 14,000 patients, but mild forms of the disease may occur in one of every 100 to 1,000 persons. […] The incidence of classic congenital adrenal hyperplasia is especially high in Madagascar and certain areas of Alaska. Mild congenital adrenal hyperplasia occurs more frequently in Ashkenazi Jews, and in Hispanic, Slavic and Italian populations. […] When mild congenital adrenal hyperplasia is suspected, elevated serum levels of 17-hydroxyprogesterone suggest 21-hydroxylase deficiency, and elevated deoxycorticosterone/11-deoxycortisol levels suggest 11-hydroxylase deficiency. […] If one child in a family is already affected by congenital adrenal hyperplasia, the HLA haplotypes of the parents and the affected child should be determined. Subsequent pregnancies can then be accurately evaluated for congenital adrenal hyperplasia by HLA haplotype analysis of chorionic villus or amniotic cells.

• #52 Gene Therapy for Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/congenital-adrenal-hyperplasia-program/gene-therapy-congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal glands that causes a deficiency of or overabundance of three types of hormones: cortisol (which regulates energy, blood pressure and blood sugar and helps us recover from a sudden illness) aldosterone (which governs the amount of salt and water in the body) androgens (which control the development of male characteristics) […] Children with classic congenital adrenal hyperplasia have mutations in the CYP21A2 gene. This causes a deficiency of 21-hydroxylase, an enzyme essential for making cortisol and aldosterone. […] Gene therapy for classic CAH uses a viral vector to deliver functional copies of the CYP21A2 gene, so the adrenal glands can properly make 21-hydroxylase. This restores the ability to make cortisol and aldosterone. […] The ultimate goal of the gene therapy is to restore the adrenal glands normal function: responding to the bodys natural signals by releasing the right amount of hormones to react to stress, illness and daily living without additional medication.

• #53 Gene Therapy for Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/congenital-adrenal-hyperplasia-program/gene-therapy-congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal glands that causes a deficiency of or overabundance of three types of hormones: cortisol (which regulates energy, blood pressure and blood sugar and helps us recover from a sudden illness) aldosterone (which governs the amount of salt and water in the body) androgens (which control the development of male characteristics) […] Children with classic congenital adrenal hyperplasia have mutations in the CYP21A2 gene. This causes a deficiency of 21-hydroxylase, an enzyme essential for making cortisol and aldosterone. […] Gene therapy for classic CAH uses a viral vector to deliver functional copies of the CYP21A2 gene, so the adrenal glands can properly make 21-hydroxylase. This restores the ability to make cortisol and aldosterone. […] The ultimate goal of the gene therapy is to restore the adrenal glands normal function: responding to the bodys natural signals by releasing the right amount of hormones to react to stress, illness and daily living without additional medication.

• #54 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes responsible for producing glucocorticoids, mineralocorticoids, and sex steroids from cholesterol in the adrenal glands. […] Gene mutations that cause defects in steroidogenesis are classified as CAH and involve the following enzymes and proteins: 21-Hydroxylase (21-OH), 11-Hydroxylase (11-OH), 3-Hydroxysteroid dehydrogenase type-2 (3-HSD-2), 17-Hydroxylase/17,20-lyase (17-OH), P450 oxidoreductase (POR), Steroidogenic acute regulatory protein (StAR), Cholesterol side-chain cleavage enzyme (SCC). […] Defects in the CYP21A2 gene, which causes 21-OH deficiency, account for approximately 95% of cases. […] CAH can be divided into 2 types: classic and nonclassic depending on the severity of the variant and the degree of enzyme function loss. Classic (severe) CAH may present as simple virilizing CAH or salt-wasting CAH, typically diagnosed in infancy. In contrast, patients with nonclassic CAH, which presents with milder symptoms, may be asymptomatic, show mild virilization postnatally, or lead to features of polycystic ovary syndrome (PCOS) and infertility in adolescents and adult females.

• #55 Congenital adrenal hyperplasia – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

  About 5% of cases of CAH are due to defects in the gene encoding 11-hydroxylase and consequent 11-hydroxylase deficiency. Other, more rare forms of CAH are caused by mutations in genes, including HSD3B2 (3-hydroxysteroid dehydrogenase 2), CYP17A1 (17-hydroxylase/17,20-lyase), CYP11A1 (P450scc; cholesterol side-chain cleavage enzyme), STAR (steroidogenic acute regulatory protein; StAR), CYB5A (cytochrome b5), and CYPOR (cytochrome P450 oxidoreductase; POR).

• #56 Congenital adrenal hyperplasia — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia is an inherited condition where the adrenal gland is larger than usual. Over 90% of cases are caused by a pathogenic variant in the CYP21A2 gene. […] Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition caused by single gene anomalies in the enzymes involved in cortisol biosynthesis, most commonly 21-hydroxylase. […] The most common form of CAH, responsible for over 90% of cases, is caused by a pathogenic variant in the gene encoding the 21-hydroxylase enzyme (CYP21A2). […] 21-hydroxylase deficient CAH is caused by pathogenic variants in both copies (biallelic) of the CYP21A2 gene, which either inactivate or significantly impair its function. […] While there are over 200 disease-causing CYP21A2 variants, the 10 most common variants account for around 70% of cases. […] CAH is an autosomal recessive condition that affects males and females in equal numbers. The parents of most affected individuals are carriers for the condition and therefore have a 25% (1-in-4) chance of another child being affected.

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