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21 – Hydroxylase → Converts 17 – Hydroxyprogesterone to 11 – Deoxycortisol.
21 – Hydroxylase → Converts Progesterone to 11 – Deoxycorticosterone.
21 – Hydroxylase deficiency:
1. Adrenal gland cannot synthesize cortisol efficiently.
2. Low cortisol levels → stimulate ACTH release from Pituitary.
3. Elevated ACTH levels → increase → production of adrenal androgens → because → accumulating high levels of cortisol precursors → diverted towards → adrenal androgen biosynthetic pathway.
4. Cortisol and aldosterone deficiency → hypotension.
5. Androgen excess → labial fusion and clitoromegaly.
17 – Hydroxylase → Converts Pregnenolone to 17 – Hydroxypregnenolone.
17 – Hydroxylase → Converts Progesterone to 17 – Hydroxyprogesterone.
17 Hydroxylase → Active in adrenal gland and gonads.
17 – Hydroxylase deficiency:
1. ACTH levels → high due to → decreased cortisol production. ACTH stimulating → formation of 11 – Deoxycorticosterone and Corticosterone in adrenals.
2. Result → low renin levels, hypertension, hypokalemia.
3. In females → genitalia → normal at birth. → Have delayed puberty → no production of sex steroid. Hypertensive → excessive production of 11 – Deoxycorticosterone and Corticosterone.
4. Males → undervirilized and hypertensive.
11 – Hydroxylase → Converts 11 – Deoxycorticosterone to Corticosterone.
11 – Hydroxylase → Converts 11 – Deoxycortisol to Cortisol.
11 – Hydroxylase deficiency:
1. Female ambiguous genitalia → increased androgen levels at birth.
2. Production of 11 – Deoxycorticosterone → increased → have mineralocorticoid excess.
20, 22 – Desmolase → Converts Cholesterol to Pregnenolone.
20, 22 – Desmolase deficiency:
1. Formation of all steroids are affected → decreased.
2. Cholesterol/Cholesterol esters accumulates in adrenal glands.
5 – alpha – reductase deficiency → causes ambiguous genitalia in males → due to → defective conversion of Testosterone to Dihydrotestosterone.
Female ambiguous genitalia → virilization
1. 21 – Hydroxylase deficiency
2. 11 – Hydroxylase deficiency
Male ambiguous genitalia → virilization
1. 5 – alpha – reductase deficiency
2. 21 – Hydroxylase deficiency → first few years of life → not in neonatal period.
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