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Congenital adrenal hyperplasia: Difference between revisions

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(Created page with "Congenital adrenal hyperplasia (CAH), sometimes called adrenogenital syndrome, is a group of autosomal recessive defects in the enzymes responsible for secretion of adrenal cortical hormones. The name comes from the compensatory adrenal hyperplasia which occurs due to decreased negative feedback on the pituitary, causing ACTH to increase. Thanks to neonatal screening the more severe forms are rare nowadays, so the clinical presentation has shifted from presenting acute...")
 
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Congenital adrenal hyperplasia (CAH), sometimes called adrenogenital syndrome, is a group of autosomal recessive defects in the enzymes responsible for secretion of adrenal cortical hormones.
'''Congenital adrenal hyperplasia''' (CAH), sometimes called '''adrenogenital syndrome''', is a group of autosomal recessive defects in the enzymes responsible for secretion of [[Adrenal cortical hormone|adrenal cortical hormones]].


The name comes from the compensatory adrenal hyperplasia which occurs due to decreased negative feedback on the pituitary, causing ACTH to increase.
The name comes from the compensatory adrenal hyperplasia which occurs due to decreased negative feedback on the pituitary, causing ACTH to increase.


Thanks to neonatal screening the more severe forms are rare nowadays, so the clinical presentation has shifted from presenting acutely with shock in the neonatal period to presenting with symptoms of increased androgens in young adults.
Thanks to [[neonatal screening]] the more severe forms are rare nowadays, so the clinical presentation has shifted from presenting acutely with shock in the neonatal period to presenting with symptoms of increased androgens in young adults.


== Classification ==
== Classification ==
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== Clinical features ==
== Clinical features ==
Salt-wasting CAH presents in the neonatal period. Patients present with symptoms of adrenal crisis, like hyponatraemia, hyperkalaemia, metabolic acidosis, hypotension, and shock, because of insufficient aldosterone and cortisol. Females also have ambiguous genitalia at birth because of increased androgens.
Salt-wasting CAH presents in the neonatal period. Patients present with symptoms of [[adrenal crisis]], like hyponatraemia, hyperkalaemia, metabolic acidosis, hypotension, and shock, because of insufficient aldosterone and cortisol. Females also have ambiguous genitalia at birth because of increased androgens.


Virilizing CAH is diagnosed at different times in the different sexes. Males present with puberty at age 2 – 4, while females present in the neonatal period with ambiguous genitalia.
Virilizing CAH is diagnosed at different times in the different sexes. Males present with puberty at age 2 – 4, while females present in the neonatal period with ambiguous genitalia.


Late onset CAH is diagnosed in young adulthood. A typical late onset CAH patient is female, has hirsutism and menstrual disturbances due to increased androgens. Male patients are almost always asymptomatic.
Late onset CAH is diagnosed in young adulthood. A typical late onset CAH patient is female, has [[hirsutism]] and menstrual disturbances due to increased androgens. Male patients are almost always asymptomatic.


== Diagnosis and evaluation ==
== Diagnosis and evaluation ==
Nowadays early-onset CAH is screened for during neonatal screening and is therefore rare. 17-hydroxy-progesterone is measured in neonates and is elevated in both 21β-hydroxylase and 11β-hydroxylase deficiency.
Nowadays early-onset CAH is screened for during [[neonatal screening]] and therefore rarely presents with symptoms. 17-hydroxy-progesterone is measured in neonates and is elevated in both 21β-hydroxylase and 11β-hydroxylase deficiency.


Late onset CAH is screened for by 17-hydroxy-progesterone levels as well. The diagnosis is confirmed if 17-hydroxyprogesterone levels are high after ACTH stimulation.
Late onset CAH is screened for by 17-hydroxy-progesterone levels as well. The diagnosis is confirmed if 17-hydroxyprogesterone levels are high after ACTH stimulation.


== Treatment ==
== Treatment ==
All early onset CAH patients should receive lifelong hormone replacement therapy of glucocorticoids and mineralocorticoids. Glucocorticoid doses must be increased in periods of stress, infection, surgery, etc.
All early onset CAH patients should receive lifelong hormone replacement therapy of [[corticosteroids]] and [[Mineralocorticoid|mineralocorticoids]]. Glucocorticoid doses must be increased in periods of stress, infection, surgery, etc.


Like any adrenal crises, salt-wasting CAH presenting with adrenal crisis is acutely treated with fluid replacement and glucocorticoids, as well as supportive treatment to correct glucose and electrolytes.
Like any [[Adrenal crisis|adrenal crises]], salt-wasting CAH presenting with adrenal crisis is acutely treated with fluid replacement and glucocorticoids, as well as supportive treatment to correct glucose and electrolytes.


Late onset CAH can be treated by oral contraceptives or glucocorticoids in females. Men do not require treatment.
Late onset CAH can be treated by oral [[Contraceptive|contraceptives]] or glucocorticoids in females. Men do not require treatment.
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Paediatrics]]