Hello Awesomites :D
I was reviewing the corticosteroid synthesis pathway and its applied.
Let us begin. :))
Adrenal gland consist of two parts :-
1. MEDULLA
2.CORTEX
Adrenal dysfunction includes hyperfunction / hypofunction of medulla and cortex.
1. MEDULLA
A) HYPERFUNCTION - pheochromocytoma
-Neuroblastoma
2.CORTEX
A)HYPERFUNCTION -Conn's disease
-Cushing's syndrome (Primary tumors)
(excess ACTH -pituitary hypersecretion,ECTOPIC)
B)HYPOFUNCTION -ACTH deficiency (Iatrogenic , pituitary insufficiency)
C)CONGENITAL ADRENAL HYPERPLASIA (from partial enzyme deficiencies due to mutation in genes)
Clinical features of CAH :-
1.DUE TO DECREASED ALDOSTERONE :-
-Sodium wasting (hyponatremia+dehydration+shock)
(early presentation)
-increased potassium
-acidosis
2.DUE TO DECREASED CORTISOL:-
-Hypoglycemia
-increased ACTH
3.DUE TO INCREASED TESTOSTERONE :-
In female , virlization.
In male, No symptom, increased size and pigmentation of penis.
Q. What is the difference between 21-hydroxylase deficiency and 11beta hydroxylase deficiency ?
Ans. In 21-hydroxylase deficiency, hypotension occurs due to salt wasting.
Accumulation of 11-deoxycorticosterone as a result of 11 beta hydroxylase deficiency leads to "HYPERTENSION".
Q.Most common form of CAH is due to mutation or deletion of which gene?
Ans. CYP21A resulting in 21-HYDROXYLASE DEFICIENCY .
Q.Which Enzyme deficiency showing virlization in females?
Ans. -21 hydroxylase
-3beta HSD
-11 Beta hydroxylase.
Q. Two hypertensive form of CAH.
Ans. 11beta hydroxylase and 17hydroxylase deficiency.
Other points :
- Females with 17-hydroxylase deficiency appear phenotypically female at birth but do not develop breasts and mensturate in adolescent because of INADEQUATE ESTRADIOL PRODUCTION(17 hydroPregnenolone is also a precursor of estrogen). They may present with hypertension.
-CAH is a type of enzyme deficiency. So it can be partial or complete .There is a severity spectrum.
More severe form shows salt wasting.
Milder form shows "NON CLASSICAL TYPE of CAH".
Diagnosis:-
I was reviewing the corticosteroid synthesis pathway and its applied.
Let us begin. :))
Adrenal gland consist of two parts :-
1. MEDULLA
2.CORTEX
Adrenal dysfunction includes hyperfunction / hypofunction of medulla and cortex.
1. MEDULLA
A) HYPERFUNCTION - pheochromocytoma
-Neuroblastoma
2.CORTEX
A)HYPERFUNCTION -Conn's disease
-Cushing's syndrome (Primary tumors)
(excess ACTH -pituitary hypersecretion,ECTOPIC)
B)HYPOFUNCTION -ACTH deficiency (Iatrogenic , pituitary insufficiency)
C)CONGENITAL ADRENAL HYPERPLASIA (from partial enzyme deficiencies due to mutation in genes)
Clinical features of CAH :-
1.DUE TO DECREASED ALDOSTERONE :-
-Sodium wasting (hyponatremia+dehydration+shock)
(early presentation)
-increased potassium
-acidosis
2.DUE TO DECREASED CORTISOL:-
-Hypoglycemia
-increased ACTH
3.DUE TO INCREASED TESTOSTERONE :-
In female , virlization.
In male, No symptom, increased size and pigmentation of penis.
Q. What is the difference between 21-hydroxylase deficiency and 11beta hydroxylase deficiency ?
Ans. In 21-hydroxylase deficiency, hypotension occurs due to salt wasting.
Accumulation of 11-deoxycorticosterone as a result of 11 beta hydroxylase deficiency leads to "HYPERTENSION".
Q.Most common form of CAH is due to mutation or deletion of which gene?
Ans. CYP21A resulting in 21-HYDROXYLASE DEFICIENCY .
Q.Which Enzyme deficiency showing virlization in females?
Ans. -21 hydroxylase
-3beta HSD
-11 Beta hydroxylase.
Q. Two hypertensive form of CAH.
Ans. 11beta hydroxylase and 17hydroxylase deficiency.
Other points :
- Females with 17-hydroxylase deficiency appear phenotypically female at birth but do not develop breasts and mensturate in adolescent because of INADEQUATE ESTRADIOL PRODUCTION(17 hydroPregnenolone is also a precursor of estrogen). They may present with hypertension.
-CAH is a type of enzyme deficiency. So it can be partial or complete .There is a severity spectrum.
More severe form shows salt wasting.
Milder form shows "NON CLASSICAL TYPE of CAH".
Diagnosis:-
- 17hydropregnenolone with or without ACTH test
- CYP21A2 panel,sequencing,deletion
- Carrier screening test (Preconception test)
- Karyotyping ( In case of ambiguity of sex)
- Hormones and electrolytes
- Counsel the parents.
- Protect from Adrenal insufficiency ( Give mineralocorticoid and glucocorticoid)
- Avoid salt wasting crisis during illness,stress,etc. ( Increase dose of glucocorticoid,Give IV fluids and sodium and dextrose)
- Surgery ,sex assignment.
(Note :- There are two more variants of CAH 1. Lipoid CAH
2.POR deficiency ( P450 oxidoreductase enzyme deficiency) - also involved in both sterol and steroid synthesis pathway).
Study hard.
-Upasana Y. :)
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