Congenital Abnormalities

- Congenital Adrenal Hyperplasia (CAH)

o 21-Hydroxylase (P450c21) deficiencies
 Simple virilizing CAH
• Excess adrenal androgens are amplified by ACTH
stimulation of the gland
 Salt-Wasting CAH
• Aldosterone synthesis impaired, rapidly fatal if
untreated
 Late-Onset CAH
• No abnormalities until virilization (changes which
make a person male or female) at puberty

Adrenal Cortical Hypofunction

- Addison’s Disease (primary)
o Disease resulting in adrenocortical hypo functioning.
o 70% due to idiopathic cortex atrophy, 30% result from gland
destruction by tumor
o Weakness, fatigue, orthostatic hypotension, anorexia, nausea,
vomiting, diarrhea, cold intolerances, dizziness, syncope,
hypoglycemia, weight loss
o HYPERPIGMENTATION (10 Addison’s Only)
 On all body areas esp skin folds. Black freckles on face, neck
and shoulders, vitiligo, bluish-black discolorations of areola
and mucous membranes, abnormal electrolytes (high Na, low
K)
o High plasma ACTH, low plasma Cortisol is diagnostic
o To treat acute: delay in treating an adrenal crisis can be fatal
o Shock and fever may be only signs, tx must not be delayed
- Addison’s Disease (Secondary)
o Caused by lack of ACTH, electrolytes are normal, low cortisol
o No hyperpigmentation

Adrenal Cortical Hyperfunction

- Adrenal Virilism (Adrenogenital syndrome)
o Excessive output of adrenal androgens causes virilization
o Hirsutism, baldness, acne, deepening of voice, amenorrhea, clitoral
hypertrophy, increased muscularity and libido
o Mild cases may only show hirsutism
- Delayed Virilizing Adrenal Hyperplasia (AKA Late onset CAH)
o Results from defect in hydroxylation of cortisol precursors
o Diminished urinary cortisol, elevated DHEA in urine
o Diagnosis is confirmed by suppression of urinary DHEA and
pregnanetriol with dexamethasone
- Virilizing Adeonomas or Adenocarcinomas
 o Androgen secreting tumor
o Dexamethasone either does not or only partially suppresses androgen
excretion
- Cushing’s Syndrome
o Chronic exposure to excess cortisol
o Pituitary hypersecretion of ACTH
o If primary Cushing’s = low ACTH, high cortisol
o If secondary Cushing’s = high ACTH, high cortisol
o Moon faces, buffalo hump on back of neck, stunted growth in children,
irregular menses in adults
o Elevated morning cortisol and lack of normal diurnal decline
o Pituitary ACTH is somewhat resistant to suppression by
dexamethasone
o If it’s a tumor causing this condition it will be completely resistant to
suppression by dexamethasone
o If caused by Adrenal tumor = ACTH too low to measure
o If caused by Ectopic tumor = ACTH markedly elevated
o Cushing’s Disease = ACTH moderately elevated

Hyperaldosteronism
- Conn’s Syndrome
o Syndrome resulting from excess aldosterone secretion by an adenoma
or hyperplastic gland
o Hypokalemic alkalosis manifested as muscle weakness, paralysis and
tetany
o Polyuria, polydipsea
o Personality changes, hyperglycemia and glycosuria may occur
o Primary aldosteonism = low plasma rennin, decreased Na and K
o Diagnosis = normal persons will have a marked increase in rennin
output in the upright position, hyperaldosterone patients will not
- Secondary Hyperaldosteronism
o Increased production of aldosterone caused by stimuli originating
outside the adrenals
o Related to hypertension and edematous conditions

Adrenal Adenomas
- Functional neoplasm is a well documented cause of Cushing’s syndrome

Adrenal Carcinomas
- a functional neoplasm, up to 80% of adrenal carcinomas are functional and
tend to invade locally
- adrenal carcinomas responsible for 50% of children with Cushing’s