Adrenal Gland

Endo L3 adrenal prof. razaq alrubaee

DISORDER OF ADRENAL LAND L3

Adrenal 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 )

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CONGENITAL ADRENAL HYPERPLASIA (adrenal insufficiency CAH ):

Adrenal steroidoenesis

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Adrenal steroidogenesis

Cholesterol
Cholesterol desmolase
Pregninolone 17 OH pregninolone dehydroepiandrosterone
3 beta hydroxylsteroid dehydrogenasae DHEA

Progesterone

deoxycortisole Androsterone
21 hydroxylase

11 beta hydroxylase 17 OH steroid deh ydrogenase

Deoxycorticosterone
Cortisole testesterone
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Corticosterone
18 oxydase
aldosterone


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Ambiguous genitalia

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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 :
21 hydroxylase deficiency (>90% of cases)
11β hydroxylase def..
3βhydroxysteroid dehydrogenase def.

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Symptoms (depend on the form of CAH &sex of patient

Mineralocorticoid deficiency :
• Vomiting due to salt loss(dehydration &death )
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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
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Types:

1-salt losing : 21 hydroxylase def. most common

2-salt retaining variety : either 11β hydroxylase or 17hydroxylase def.

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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


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• 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

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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
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• 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 )


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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

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• 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
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Clinical features

Symptoms :
• fatigue ,anorexia ,weight loss,myalgia &joint pain
• nausea ,vomiting
• Glucocorticoid deficiency
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• Both glucocorticoid &mineralocorticoid


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Signs

Signs :
• Low blood pressure
• Skin or mucosal hyperpigmentation
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• Both mineralo&glucocorticoid lack
• Excess of proopiomelanocortin –derived peptide

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zainab .14 yrs with dark skin recurent fainting bp60/40mmhg --Sugar 85mg./na 121mMOL/-k 5.5mMol

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Lab.findings

Hyponatremia
Hypoglycemia &ketosis
Hyperkalemia
Low cortisol level
Eosinophilia &lymphocytosis
High ACTH level
High plasma renin activty
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• Treatment :

Correction of electrolyte abnormality with hypoglycemia
Steroid replacement. Hydrocortisone orally in daily dividing dose of 10-15 mg/m²/day

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• 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 ).

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exogenous Steroid excess due to allergic airway disease

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Regarding adrenal insufficiency

• Precocious puberty
• High ACTH
• Low plasma renin activity
• Low 17 ketosteroid in urine in CAH
• fludrocortisone is a meniralocorticoid used in CAH
• Slow growth in childhood
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