Related Subjects:
|Adrenal Physiology
|Addisons Disease
|Phaeochromocytoma
|Adrenal Adenomas
|Adrenal Cancer
|Cushing Syndrome
|Cushing Disease
|Congenital Adrenal hyperplasia
|Primary hyperaldosteronism (Conn's syndrome)
|ACTH
|McCune Albright syndrome
An inherited Enzyme defect in one or more of the pathways to produce glucocorticoids, mineralocorticoids and sex steroids can lead to failure to suppress ACTH and secondary adrenal hyperplasia and overproduction of other steroid hormones along functioning pathways.
About
Aetiology
Virilisation
Clinical
Name Gene Clinical Investigations Treatment 21-hydroxylase def (95%) CYP21 virilizing, ambiguous genitalia, salt loss in 70% Glucocorticoid deficiency, mineralocorticoid deficiency and androgen excess . Low Na, High K, Low glucose, low BP. male babies show early puberty. Elevated 17-hydroxyprogesterone concentrations. Elevated Testosterone and
Androstenedione, ACTH levels elevated
11B-hydroxylase def (5%) CYP11B1 virilizing, ambiguous genitalia in females, salt retention, HTN Low cortisol and aldosterone. Slight increase in 17(OH)progesterone. Elevated 11-deoxycortisol and testosterone and androstenedione
17-hydroxylase def (v rare) CYP17 non-virilizing, intersex in boys. low K+ (high 11-DOC) Low cortisol and aldosterone. Low 17(OH) progesterone, Low testosterone and DHA and androstenedione
Management: Suppress activity with Steroids, Hydrocortisone, Fludrocortisone
Adrenocortical crises
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Congenital Adrenal hyperplasia
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