Sem 4 Week 12 Lecture 4

Front 1

Size of adrenal glands in fetus is

Back 1

greater than size of kidneys

Front 2

Structure of fetal adrenal gland

Back 2

Different--> 2 zones(after birth ,involution)

Front 3

Commonest adrenal diseases in children are all

Back 3

GENETIC

Front 4

Name them

Back 4

-Congenital adrenal hyperplasia
-Adrenoleukodystrophy
-Neuroblastoma

Front 5

CAH

Back 5

genetic deficiency in an adrenal steroid biosynthetic enz

Front 6

Adrenoleukodystrophy

Back 6

genetically determined defect in fatty acid transporter pz

Front 7

Neuroblastoma

Back 7

genetically determined cancer

Front 8

Commonest adrenal diseases in ADULTS-

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-TUMOURS(adrenal:cortex/medulla & pituitary,causing adrenal hyperplasia % ectopic)
-AUTOIMMUNE

Front 9

Too much cortisol leads to

Back 9

-weight gain
-muscular atrophy
-hyperglycemia(increased GNG from A.A)
-striae(wasting of skin-->more fragile/see surface BV easier)
-osteoporosis(catabolism of bone)
-hypertension(salt retention)
-inhibition of linear growth

Front 10

Child with x's cortisol

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Short and fat

Front 11

Adult with x's cortisol

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Abnormal stature

Front 12

Cortisol has

Back 12

Mineralocorticoids activity

Front 13

Not ENOUGH cortisol causes

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-GIT symptoms(anorexia,nausea,vomiting,weight loss)
-low BP(salt wasting)
-darkening of skin(if ACTH secretion if stimulated)
-muscle weakness(both skeletal and cardiac muscle)
-increased susceptibility to infection(bacterial/fungal)

Front 14

Excess adrenal androgens cause

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-Premature pubic hair
-hirsutism
-acne
-enlargement of penis/clitoris
-behavioural changes
-linear growth spurt
-rapid epiphyseal fusion(child is tall--> short adult)
-muscular habitus
-deepening of voice

Front 15

Adrenal androgen deficiency(drops with age)

Back 15

-Failure to dev. pubic hair/axillary

Front 16

Excess aldosterone

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-HT(salt retention--> Na+ increase with K+ loss)
-weakness(hypokalaemia)

Front 17

Insufficient aldos.

Back 17

-Dehydration
-salt depletion
-postural hypotension
-cardiac arrhythmias(hyperkalaemias)

Front 18

Causes of adrenocortical insufficiency

Back 18

-Enz. defect in cortisol biosynthesis
-X-linked adrenal HYPOplasia congenita
-Adrenoleukodystrophy(X linked genetic defect in transporter pz)
-autoimmune adrenal destruction
-adrenal destruction by TB

Front 19

Most important adrenal disease of childhood

Back 19

CAH

Front 20

CAH

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-90 % of cases have 21-hydroxylase def.
-autosomal recessive
-variable impairment of cortisol & aldosterone biosynthesis
-prenatal ACTH stimulation-->adrenal hyperplasia
-Increased androgen--> virilisation of dev. fetal genitalia esp if fetus is female.

Front 21

What is measured in 21-hydroxylase def. ?

Back 21

-17-OH progesterone

Front 22

What are the 3 diff. presentations of CAH in females ?

Back 22

-Infant with ambiguous genitalia(clitoris/labia exposed to x's androgen--> fusion of labial folds)
-Premature pubic hair & enalrged clitoris
-Adolescent hirsutism and acne

Front 23

Labial fusion always occur

Back 23

Before birth

Front 24

CAH in males

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-adrenal crisis in a baby 2-3 weeks
-premature sexual dev at age 2-3 yrs(big penis,pubic hair BUT testes NOT enlarged-adrenal androgens doing all the work) --> diff from precocious puberty

Front 25

Adrenal crisis in babies

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-Vomiting
-lethargy
-Pigmentation
-Severe hypoglycemia
-girls dont get to that stage

Front 26

Management of CAH

Back 26

-IV fluids,electrolytes,glc
-replace steroids: hydrocortisone,fludrocortisone
-surgery to correct ambigous genitalia
-genetic counselling
-advice abt prenatal dx and tx

Front 27

Adrenal hypoplasia congenita

Back 27

-very rare
-X linked(all males)
-born with hyperpigmentation(round mouth,tongue,genitals)
-hypoglycemia,low BP,salt wasting
-fatal w/o correct tx
-

Front 28

Adrenoleukodystrophy(ADLKD)

Back 28

-mutated gene encoding a peroxisomal mb transported pz
-all males but carriers midly affected
-results in accumulation of very long chain fatty acids,affecting CNS,adrenal cortex & gonads

Front 29

ADLKD

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-severe & progressive abnormalities assoc. with demyelination of white matter in brain/spinal cord
-behaviour disorders,memory loss,blindness,mvt disorder,apathy
-affects boys around 8-9 y.o

Front 30

ADLKD

Back 30

-manifested by darkening of skin
-other symptoms rel. minor
-replacement therapy with cortisol doesnt influence progression of CNS disease
-most cases die within 12 months of dx.

Front 31

Addison's disease

Back 31

-Adrenal insufficiency due to destruction of adrenalss
-salt-wasting state results in low serum sodium and high serum potassium
-treat with cortisol and fludrocortisone

Front 32

In Australia,Addison's caused by

Back 32

Autoimmune condition--> nausea + losing weight

Front 33

Addisonian pigmentation

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-knuckles of hands
-knees
-gums and oral mucosa(near incisors)
-general pigmentation

Front 34

Autoimmune polyglandular syndrome

Back 34

-addison's disease
-primary hypoparathyroidism
-alopecia totalis
-viteligo(hypopigmentation of skin)
-primary gonadal failure
-hypothyroidism
-IDDM

Front 35

Hypercortisolism-2 types ?

Back 35

-ACTH dependent
-ACTH independent

Front 36

ACTH dependent

Back 36

-pituitary adenoma(cushing's disease)
-ectopic ACTH syndrome

Front 37

ACTH independent

Back 37

-Cushing's syndrome
-adrenal adenoma or carcinoma
-micronodular adrenocortical hyperplasia(genetic: carney complex--> lentigines,rare tumours)

Front 38

Investigations of suspected Cushing's

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-24 hr free cortisol
-serum cortisol & plasma ACTH at 0800 and midnight
-dexa test
-cranial MRI/adrenal CT

Front 39

for DEXA test,

Back 39

-if suppression with HIGH dose,suspect pituitary tumour
-no suppression : suspect adrenal tumour.

Front 40

Mineralocorticoid excess

Back 40

Conn's syndrome

Front 41

Conn's syndrome

Back 41

-adrenocortical tumour secreting aldosterone
-present with HT or with weakness due to LOW K+
-high Na+,low K+ and LOW renin
-cured by surgery

Front 42

Adreocortical cancer

Back 42

-may secrete cortisol,DHEAS,aldosterone
-clinical features vary
-surgery only hope of cure
-poor prognosis(if more than 100 g,malignant)

Front 43

Phaeochromocytomas

Back 43

-tumour secreting catecholamines
-adrenal medulla or extra-adrenal(symp. chain)
-familial or sporadic,commonly bilateral,may be malignant
-secrete NA,ADR(rarely dopamine) intermittently or continously
-make other peptides incl. ACTH

Front 44

Dx. of the above

Back 44

-24 hr urinary catechols
-CT/MIBG adrenal scans(nuclear med with 131 I )

Front 45

Multiple Endocrine Neoplasia

Back 45

-genetic
-familial(dominant)
-multiple organs involved in 1 person
-screening od relatives may reveal genetic susceptibility before any tumours dev.

Front 46

MEN 1

Back 46

-hypercalcemia
-gastrinoma(peptic ulceration)
-hypoglycemia(islet cell tumour)
-Pituitary(acromegaly,Cushings,galactorrhea,amenorrhea)
-carcinoid : watery diarrhoea
-glucagonoma syndrome: rash,anorexia,anaemia,diarrhoea,thrombosis.

Front 47

Carcinoid

Back 47

-tumours in GIT
-secrete serotonic like substances

Front 48

Glucagonoma

Back 48

Pancreatic tumour secreting glucagon

Front 49

MEN 2 A

Back 49

-medullary Carcinoma of thyroid : 90%
-phaeochromocytomas:50%
-hyperparathyroidism:10-20%

Front 50

MEN 2B

Back 50

-MCT :100%
-phaeo :50%
-ABSENCE of hyperparathyroidism
-Marfanoid habitus
-prominent mucosal neuromas