Endo L3 adrenal prof. razaq alrubaee
DISORDER OF ADRENAL LANDAdrenal gland consist of cortex & medulla
1-Cortex
outer layer zona glomerularis(aldosterone secretion )
middle layer :zona fasiculata (glucocorticoid &cortizole )
inner layer :zona reticularis (androgen secretion )
2- medulla (epinephrine &norepinephrine )
CONGENITAL ADRENAL HYPERPLASIA (adrenal insufficiency CAH ):
Adrenal steroidoenesis (مخطط مهم جدا في البوربوينت لا نستطيع نسخه )
A several of autosomal recessive disorder result from mutation of gene for enzymes mediating biochemical steps for production of mineralocorticoids ,glucocorticoids & sex hormones from cholesterol by adrenal gland
Most common types :
(1)21 hydroxylase deficiency (>90% of cases)
(2)11β hydroxylase def..
(3)3βhydroxysteroid dehydrogenase def.
Symptoms (depend on the form of CAH &sex of patient
Mineralocorticoid deficiency :
Vomiting due to salt loss(dehydration &death )
Excess androgen :
Average size penis
Ambiguous genitalia in females
Early pubic hair & rapid growth in childhood
Precocious puberty
Excessive facial hair virilization
Infertility due to anovulation
Clitoromegaly
Undervirilization in XY male which can result in apparently female external genitals
Types:
1-salt losing : 21 hydroxylase def. most common
2-salt retaining variety : either 11β hydroxylase or 17hydroxylase def.
manifestations (depend on enzyme deficit ) with lab.findings
Hypoglycemia ,hyperkalemia. hyponatremia (due to hypoaldosteronism ) repeated vomiting .dehydration
Low cortisole level
High ACTH
High 17 α hydroxyprogesterone in blood
High 17 ketosteroid in urine
Most definite (measure serum cortisol pre & after ACTH administration
Karyotyping to ascertain the sex of the child
Antenatal diagnosis possible by chorionic villus sampling in 1st trimester & 17 OH in amniotic fluid in 2nd trimester
Treatment.
Aim:
1-decrease rate of bone growth
2-stop virilisation,
3-prevent salt loss
4-attain normal puberty by steroid replacement &surgery if needed
Immediate & vigorous fluid &electrolytes replacement
supply enough glucocorticoid (natural hydrocortisone )to reduce hyperplasia & overproduction of androgen or mineralocorticoid
Replace enough mineralocorticoid (fludrocortisone )florinef (trade name )
Treatment.
Provide testesterone or estrogen at puberty if deficient
Optimize growth &bone maturation
Hydrocortisone Na succinate 10-15 mg \m²\24hr TID
fludrocortisone (synthetic mineralocorticoid ) orally in dose 0.05-0.2 mg/day
Addison dsiaese : (acquired adrenal insufficiency ):
Occur as a part of autoimmune polyendocrinopathy syndrome type-2(APS-2): which consist of Addison dis. autoimmune thyroiditis , or type 1 DM .
Type 1 polyendocrinopathy : consist of : mucocutaneous candidiasis & various
autoimmune endocrinopathies like hypoparathyroidism ,Adrenal insufficiency
Symptoms :
fatigue ,anorexia ,weight loss,myalgia &joint painnausea ,vomiting
Glucocorticoid deficiency
Both glucocorticoid &mineralocorticoid
Signs :Low blood pressure
Skin or mucosal hyperpigmentation
Both mineralo&glucocorticoid lack
Excess of proopiomelanocortin –derived peptideLab.findings
Hyponatremia
Hypoglycemia &ketosis
Hyperkalemia
Low cortisol level
Eosinophilia &lymphocytosis
High ACTH level
High plasma renin activty
Treatment :
Correction of electrolyte abnormality with hypoglycemiaSteroid replacement. Hydrocortisone orally in daily dividing dose of 10-15 mg/m²/day
Cushing syndrome:
excess of cortisol or other glucocorticoid due to either adrenal tumors or central pituitary involvement and or exogenous steroid usage (details in internal medicine lectures ).
Regarding adrenal insufficiency
Precocious pubertyHigh ACTH
Low plasma renin activity
Low 17 ketosteroid in urine in CAH
fludrocortisone is a meniralocorticoid used in CAH
Slow growth in childhood