An autosomal recessive condition known as congenital adrenal hyperplasia (CAH) is caused by abnormalities in the genes for the enzymes needed for the manufacture of mineralocorticoids, sex steroids, or glucocorticoids from lipoprotein by the adrenal cortex.
Most of these illnesses include the overproduction or underproduction of sex hormones, which can influence how some infants, kids, or adults develop their secondary or primary sexual identity.
Deficient mineralocorticoid production can occasionally cause severe salt loss, rising newborns, mortality, and morbidity. It is advised that all newborns be screened for CAH, as is done in the United States and many other industrialized nations, to make an early diagnosis and start treatment.
Epidemiology
Yupik Eskimos and Native Americans are more likely to have CAH in the U.S. The incidence is roughly 1 per 15,000 among White people. Two sexes are equally impacted by CAH because all varieties have a recessive inheritance mode. However, the phenotypic expression may vary between the sexes due to the accumulation of testosterone or precursor substances.
Two sexes are equally impacted by CAH because all varieties have a recessive inheritance mode. However, the phenotypic expression may vary between the sexes due to the accumulation of precursor substances or testosterone.
Because of the ambiguous genitalia, salt loss, or premature virilization, CAH is typically visible at birth or shortly thereafter. With the appearance of oligomenorrhea or virilizing symptoms in females, atypical instances might be identified during puberty.
Anatomy
Pathophysiology
The adrenal gland is the location of steroidogenesis & generates 3 important steroids: the sex hormones, adrenal androgens that control sexual characteristics traits in females; aldosterone, the mineralocorticoid, which also modulates blood pressure, and electrolytes; glucocorticoids and vasculature volume in the form of cortisol, that further regulates the immune reaction and metabolism. The precursor for the production of steroids is cholesterol obtained from dietary components, endogenous production, or both.
Several enzymes, including 21-hydroxylase, 11-beta-hydroxylase, and 17-alpha-hydroxylase, mediate the pathway for steroid production. The transition of 17 hydroxyprogesterone (17OHP) into 11-deoxycortisol (the precursor for cortisol) and the transition of progesterone into 11-deoxycorticosterone (the precursor of aldosterone) by the enzyme 21-hydroxylase is crucial in the pathway leading to the production of all steroids, whereas the production of the androgen and cortisol dehydroepiandrosterone by the enzyme 11-beta-hydroxy (DHEA).
When one or both of these enzymes are deficient, the generation of the main steroids is hampered, which stimulates corticotropin-mediated storage of cortisol precursors and shifts the pathophysiology of steroid production forward into androgen release. There are different levels of virilization at birth as a result of fetal hyperandrogenism.
A gene deficiency is connected to CAH. The biological leukocyte antigenic (HLA) complex’s 6p21.3 CYP21A2 gene, which codes for the enzyme 21-hydroxylase, is the most frequently defective gene, accounting for 95 percent of instances. Variability is introduced by the inefficiency caused by the particular alleles present within every patient. Excess reproductive hormones effects during adolescence or childhood are caused by milder levels of inefficiency.
Etiology
The most frequent cause of CAH is CYP21A mutations or deletions. In 90 percent to 95 percent of cases of adrenal enlargement, this mutation results in a 21–hydroxylase deficit. Alterations to CYP21A are frequently triggered by mutations or incomplete deletions. In the overall population, the incidence rate is one incidence per sixty people, but in a few genetically isolated populations with such a small genetic pool, that number rises to 1 in 3.
All groups are affected by CAH, which is brought on by a 21-hydroxylase shortage, although people of Iranian, Moroccan, or Jewish ancestry are more likely to have 11-beta-hydroxylase insufficiency. The location and extent of gene deletions or mutations, which result in complex allelic differences, affect disease phenotypic and severity presentation.
For example, genotyping these people is difficult due to the nearly 300 CYP21A2 variants that have recently been discovered. Individuals with nonclassic congenital adrenal hyperplasia could be asymptomatic or appear with a weaker form of virilization postnatally, whereas individuals who have classic congenital adrenal hyperplasia may appear as salt-wasting or simple virilizing congenital adrenal hyperplasia and are typically diagnosed in childhood.
Genetics
Prognostic Factors
The majority of individuals have a positive prognosis if the condition is quickly identified and treated. Although the physical limitations can be resolved, the majority of people experience lifelong emotional problems as a result of ambiguous genitalia.
These patients may also experience the following issues:
Infertility
Difficulties with female sexual identity
Short height
Female virilization concerns
Early death in individuals undergoing severe surgeries, trauma, or disease who do not get stress dosages of corticosteroids or glucocorticoids
An autosomal recessive condition known as congenital adrenal hyperplasia (CAH) is caused by abnormalities in the genes for the enzymes needed for the manufacture of mineralocorticoids, sex steroids, or glucocorticoids from lipoprotein by the adrenal cortex.
Most of these illnesses include the overproduction or underproduction of sex hormones, which can influence how some infants, kids, or adults develop their secondary or primary sexual identity.
Deficient mineralocorticoid production can occasionally cause severe salt loss, rising newborns, mortality, and morbidity. It is advised that all newborns be screened for CAH, as is done in the United States and many other industrialized nations, to make an early diagnosis and start treatment.
Yupik Eskimos and Native Americans are more likely to have CAH in the U.S. The incidence is roughly 1 per 15,000 among White people. Two sexes are equally impacted by CAH because all varieties have a recessive inheritance mode. However, the phenotypic expression may vary between the sexes due to the accumulation of testosterone or precursor substances.
Two sexes are equally impacted by CAH because all varieties have a recessive inheritance mode. However, the phenotypic expression may vary between the sexes due to the accumulation of precursor substances or testosterone.
Because of the ambiguous genitalia, salt loss, or premature virilization, CAH is typically visible at birth or shortly thereafter. With the appearance of oligomenorrhea or virilizing symptoms in females, atypical instances might be identified during puberty.
The adrenal gland is the location of steroidogenesis & generates 3 important steroids: the sex hormones, adrenal androgens that control sexual characteristics traits in females; aldosterone, the mineralocorticoid, which also modulates blood pressure, and electrolytes; glucocorticoids and vasculature volume in the form of cortisol, that further regulates the immune reaction and metabolism. The precursor for the production of steroids is cholesterol obtained from dietary components, endogenous production, or both.
Several enzymes, including 21-hydroxylase, 11-beta-hydroxylase, and 17-alpha-hydroxylase, mediate the pathway for steroid production. The transition of 17 hydroxyprogesterone (17OHP) into 11-deoxycortisol (the precursor for cortisol) and the transition of progesterone into 11-deoxycorticosterone (the precursor of aldosterone) by the enzyme 21-hydroxylase is crucial in the pathway leading to the production of all steroids, whereas the production of the androgen and cortisol dehydroepiandrosterone by the enzyme 11-beta-hydroxy (DHEA).
When one or both of these enzymes are deficient, the generation of the main steroids is hampered, which stimulates corticotropin-mediated storage of cortisol precursors and shifts the pathophysiology of steroid production forward into androgen release. There are different levels of virilization at birth as a result of fetal hyperandrogenism.
A gene deficiency is connected to CAH. The biological leukocyte antigenic (HLA) complex’s 6p21.3 CYP21A2 gene, which codes for the enzyme 21-hydroxylase, is the most frequently defective gene, accounting for 95 percent of instances. Variability is introduced by the inefficiency caused by the particular alleles present within every patient. Excess reproductive hormones effects during adolescence or childhood are caused by milder levels of inefficiency.
The most frequent cause of CAH is CYP21A mutations or deletions. In 90 percent to 95 percent of cases of adrenal enlargement, this mutation results in a 21–hydroxylase deficit. Alterations to CYP21A are frequently triggered by mutations or incomplete deletions. In the overall population, the incidence rate is one incidence per sixty people, but in a few genetically isolated populations with such a small genetic pool, that number rises to 1 in 3.
All groups are affected by CAH, which is brought on by a 21-hydroxylase shortage, although people of Iranian, Moroccan, or Jewish ancestry are more likely to have 11-beta-hydroxylase insufficiency. The location and extent of gene deletions or mutations, which result in complex allelic differences, affect disease phenotypic and severity presentation.
For example, genotyping these people is difficult due to the nearly 300 CYP21A2 variants that have recently been discovered. Individuals with nonclassic congenital adrenal hyperplasia could be asymptomatic or appear with a weaker form of virilization postnatally, whereas individuals who have classic congenital adrenal hyperplasia may appear as salt-wasting or simple virilizing congenital adrenal hyperplasia and are typically diagnosed in childhood.
The majority of individuals have a positive prognosis if the condition is quickly identified and treated. Although the physical limitations can be resolved, the majority of people experience lifelong emotional problems as a result of ambiguous genitalia.
These patients may also experience the following issues:
Infertility
Difficulties with female sexual identity
Short height
Female virilization concerns
Early death in individuals undergoing severe surgeries, trauma, or disease who do not get stress dosages of corticosteroids or glucocorticoids
An autosomal recessive condition known as congenital adrenal hyperplasia (CAH) is caused by abnormalities in the genes for the enzymes needed for the manufacture of mineralocorticoids, sex steroids, or glucocorticoids from lipoprotein by the adrenal cortex.
Most of these illnesses include the overproduction or underproduction of sex hormones, which can influence how some infants, kids, or adults develop their secondary or primary sexual identity.
Deficient mineralocorticoid production can occasionally cause severe salt loss, rising newborns, mortality, and morbidity. It is advised that all newborns be screened for CAH, as is done in the United States and many other industrialized nations, to make an early diagnosis and start treatment.
Yupik Eskimos and Native Americans are more likely to have CAH in the U.S. The incidence is roughly 1 per 15,000 among White people. Two sexes are equally impacted by CAH because all varieties have a recessive inheritance mode. However, the phenotypic expression may vary between the sexes due to the accumulation of testosterone or precursor substances.
Two sexes are equally impacted by CAH because all varieties have a recessive inheritance mode. However, the phenotypic expression may vary between the sexes due to the accumulation of precursor substances or testosterone.
Because of the ambiguous genitalia, salt loss, or premature virilization, CAH is typically visible at birth or shortly thereafter. With the appearance of oligomenorrhea or virilizing symptoms in females, atypical instances might be identified during puberty.
The adrenal gland is the location of steroidogenesis & generates 3 important steroids: the sex hormones, adrenal androgens that control sexual characteristics traits in females; aldosterone, the mineralocorticoid, which also modulates blood pressure, and electrolytes; glucocorticoids and vasculature volume in the form of cortisol, that further regulates the immune reaction and metabolism. The precursor for the production of steroids is cholesterol obtained from dietary components, endogenous production, or both.
Several enzymes, including 21-hydroxylase, 11-beta-hydroxylase, and 17-alpha-hydroxylase, mediate the pathway for steroid production. The transition of 17 hydroxyprogesterone (17OHP) into 11-deoxycortisol (the precursor for cortisol) and the transition of progesterone into 11-deoxycorticosterone (the precursor of aldosterone) by the enzyme 21-hydroxylase is crucial in the pathway leading to the production of all steroids, whereas the production of the androgen and cortisol dehydroepiandrosterone by the enzyme 11-beta-hydroxy (DHEA).
When one or both of these enzymes are deficient, the generation of the main steroids is hampered, which stimulates corticotropin-mediated storage of cortisol precursors and shifts the pathophysiology of steroid production forward into androgen release. There are different levels of virilization at birth as a result of fetal hyperandrogenism.
A gene deficiency is connected to CAH. The biological leukocyte antigenic (HLA) complex’s 6p21.3 CYP21A2 gene, which codes for the enzyme 21-hydroxylase, is the most frequently defective gene, accounting for 95 percent of instances. Variability is introduced by the inefficiency caused by the particular alleles present within every patient. Excess reproductive hormones effects during adolescence or childhood are caused by milder levels of inefficiency.
The most frequent cause of CAH is CYP21A mutations or deletions. In 90 percent to 95 percent of cases of adrenal enlargement, this mutation results in a 21–hydroxylase deficit. Alterations to CYP21A are frequently triggered by mutations or incomplete deletions. In the overall population, the incidence rate is one incidence per sixty people, but in a few genetically isolated populations with such a small genetic pool, that number rises to 1 in 3.
All groups are affected by CAH, which is brought on by a 21-hydroxylase shortage, although people of Iranian, Moroccan, or Jewish ancestry are more likely to have 11-beta-hydroxylase insufficiency. The location and extent of gene deletions or mutations, which result in complex allelic differences, affect disease phenotypic and severity presentation.
For example, genotyping these people is difficult due to the nearly 300 CYP21A2 variants that have recently been discovered. Individuals with nonclassic congenital adrenal hyperplasia could be asymptomatic or appear with a weaker form of virilization postnatally, whereas individuals who have classic congenital adrenal hyperplasia may appear as salt-wasting or simple virilizing congenital adrenal hyperplasia and are typically diagnosed in childhood.
The majority of individuals have a positive prognosis if the condition is quickly identified and treated. Although the physical limitations can be resolved, the majority of people experience lifelong emotional problems as a result of ambiguous genitalia.
These patients may also experience the following issues:
Infertility
Difficulties with female sexual identity
Short height
Female virilization concerns
Early death in individuals undergoing severe surgeries, trauma, or disease who do not get stress dosages of corticosteroids or glucocorticoids
https://www.ncbi.nlm.nih.gov/books/NBK448098/
Free CME credits
Both our subscription plans include Free CME/CPD AMA PRA Category 1 credits.
Digital Certificate PDF
On course completion, you will receive a full-sized presentation quality digital certificate.
medtigo Simulation
A dynamic medical simulation platform designed to train healthcare professionals and students to effectively run code situations through an immersive hands-on experience in a live, interactive 3D environment.
medtigo Points
medtigo points is our unique point redemption system created to award users for interacting on our site. These points can be redeemed for special discounts on the medtigo marketplace as well as towards the membership cost itself.
Community Forum post/reply = 5 points
*Redemption of points can occur only through the medtigo marketplace, courses, or simulation system. Money will not be credited to your bank account. 10 points = $1.
All Your Certificates in One Place
When you have your licenses, certificates and CMEs in one place, it's easier to track your career growth. You can easily share these with hospitals as well, using your medtigo app.
