Endocrinology Flashcards
T1DM
i) what happens? name two viruses that may trigger it?
ii) what is the ideal range for blood glucose? how do up to 50% of children present? how do the rest of the patients present? (3) name two more rare ways to present
iii) name three baseline bloods that should be done on dx? name three autoantibodies that may be tested for
qAA ‘;
i) beta cells in the pancreas stop producing insulin
may be caused by coxsackie B virus or enterovirus
ii) 4.4-6.1 mmol/l
up to 50% px with DKA
the rest px with classic triad of hyperglycaemia symptoms eg polyuria, polydipsia, weight loss
may also px with secondary enuresis (bed wetting) or recurrent infections
iii) FBC, renal and lab glucose
blood cultures if suspected infection
HBa1c
auto ABs - anti TPO, anti TTG and insulin auto antibodies eg anti GAD, islet cell antibodies, insulin antibodies
MANAGEMENT OF T1DM
i) what does the basal bolus regimen comprise of?
ii) name a side effect of repeatedly injecting the same spot with insulin?
iii) how does an insulin pump work? how often does it need to be replaced? name two things that would qualify a patient for a pump
iv) name an adv and disadv of insulin pump
v) what are the two types of pump?
i) basal is long acting insulin eg lantus given in PM (background insulin through the day)
bolus is short acting insulin eg actrapid given before meals usually 3x per day (injected in relation to amount of carbs consumed)
ii) repeated injection > lipodystrophy - subcut fat hardens and prevents normal absorption (need to cycle injection sites to prevent)
iii) small device that continously infuses insulin at different rates
replace cannula every 2-3 days
child must be >12yrs and have difficulty controlling HbA1c
iv) adv of pump - better sugar control, more flex and less injections
disadv of pump - hard to learn to use, attached at all times, small risk of infection
v) tethered pump - att to infusion set and worn around waist - controlled direct on device
patch pymp - direct on skin without visible tubes - new pump attached when runs out of insulin and controlled by sep remote
DKA
i) when does ketogenesis normally occur? what are converted to ketones? how can ketones be measured?
ii) when does DKA occur in t1DM? why does dehydration occur? what does potassium imbalance occur? what causes acidosis?
iii) what complication are children with DKA at risk of? name three symptoms they may px with?
iv) name five presenting symptoms of DKA? which three things are diagnostic?
v) what are the two key steps in management?
vi) should fluid bolus be given? how can hypogly be prevented? what electrolyte is added to IV fluid?
i) ketogenesis occ when there is insufficient supply of glucose and glycogen stores are exhausted
fatty acids > ketones
measure ketones via urine dipstick
ii) DKA occ when person is not injecting adequate insulin
ketogenesis > bicarbonate produced to buffer ketone acids > get used up > acidosis
dehyration due to hypergly and osmotic diuresis
potassium imbalance due to insulin usually drives K+ into cells > no insulin means no K+ into cells
when given insulin can quickly cause hypokal > fatal arrhythmia
iii) cerebral oedema - px with headaches, altered behavs, bradycardia, alt conc
iv) polyuria, dipsia, N+V, diarrhoea, acetone breath, dehy, alt conc
dx are hypergly, ketosis, acidosis
v) correct dehy evenly over 48 hours (too fast > ceb oedema)
give fixed rate insulin infusion
vi) dont give fluid bolus due to CO risk
prevent hypogly by given IV dextrose once glucose below 14mmol/l
add potassium to IV fluids
CONGENITAL ADRENAL HYPERPLASIA
i) which enzyme is there a deficiency in? what does this lead to underproduction of? (2) what does this lead to overproduction of?
ii) what is the inheritance pattern? what is the deficient enzyme responsible for? what does this therefore lead to in terms of aldosterone, cortisol and testosterone levels?
iii) how do females usually px at birth in severe cases? name three ways patients with more severe CAH may px? name three signs seen?
iv) when may mild cases px? name three things seen in females? in males? how may the skin appear?
v) which two hormones need to be replaced? what may female patients need?
i) congenital defic of 21-hydroxylase enzyme > underproduction of cortisol and aldosterone
overproduction of testos
ii) auto recessive
21-hydroxlase converts progesterone to aldo and cortisol
(proges > testos but does not req the 21-hydrox enzyme)
as proges cant be convered to aldo/cortisol the extra gets converted to testosterone (high levels of testos)
iii) severe females - virilised genitalia eg ambiguous genitalia due to high testos levels
may also see hyponatremnia, hyperkal, hypogly
also see poor feeding, vomiting, dehy, arrhythmia
iv) mild may px in childhood or after puberty (symptoms usually related to high androgens)
females - tall for age, facial hair, absent periods, deep voice, early puberty
males - tall for age, deep voice, large penis, small testicles, early puberty
may also see hyperpigmentation of skin
v) replace cortisol with hydrocortisone
replace aldosterone with fludrocortisone
females with ambiguous genitalia may need corrective surgery
GROWTH HORMONE DEFICIENCY
i) where is GH produced? what is it responsible for? what does it stimulate the release of?
ii) what happens in congenital GH deficiency? which two mutations may cause it? what is empty sella syndrome?
iii) name three things acquired GH deficiency can be secondary to? name two other deficiencies it can also occur alongside?
iv) name there ways it present in neonates? name three ways it can px in infants?
i) GH produced by ant pituitary gland > stimulates cell reprod and growth of organs/musc/bones
stimulates rel of IGF-1 by liver > also promotes growth
ii) congenital GH defic results from disrup to growth hormone acis at hypothalamus or pit gland
can be due to muts in GH1 and GHRHR
empty sella - pt gland is under dev or damaged
iii) acquired can be secondary to infection, trauma or interventions eg surgery
can occ alongside hypothyroid, adrenal insuff, LHG/FSH defic (hypopit)
iv) neonates - micropenis, hypogly, severe jaundice
chhildren - poor growth (stopping age 2-3), short stature, slow dev of move and strength, delayed puberty
GROWTH HORMONE DEFICIENCY TX
i) what does GH stimulation test involve? name three medications that can be used? what will be seen in GHD?
ii) name three other investigations that may be done
iii) what tx can be given daily? what else needs to be monitored?
i) measuring response to medications that usually stim release of GH eg glucagon, insulin, argenine, clonidine
monitor GH levels 2-4 hours after admin > poor response in GHD
ii) test for other hormone defic eg thyroid and adrenal
MRI brain for pit/HT abnorms
genetic testing for turner/prader willi
Xray or DEXaA to det bone age
iii) daily subcut injections of growth hormone (somatropin)
tx other deficiences, monitor height and development
ADRENAL INSUFFICIENCY
i) what happens? which two hormones are not produced?
ii) what is addisons aka? which two hormones are implicated? what is the most common cause?
iii) what is secondary adrenal insuff due to? what does this result in? what causes it?
iv) what is tertiary adrenal insuff due to? what is this usually a result of?
v) name four symptoms in babies? name four symptoms in older children
i) adrenal glands dont produce enough steroid hormone - cortisol and aldo
ii) addisons is primary adrenal insuff > reduced cortisol and aldo (autoimmune)
iii) secondary due to inadequate ACTH stimulating the adrenals > low levels of cortisol
caused by loss/damage to pit gland (may be due to congenital underdev of pit gland, surgery, RT, infection)
iv) tertiary insuff - inadequate CRH rel from hypothalamus
usually due to being on long term steroids (>3w) causing hypothal supression - taper steroids slowly as HT will not immediately wake up after steroids stopped
v) babies - lethargy, vomiting, poor feeding, hypogly, jaundice, fail to thrive
children - N+V, poor weight gain, weight loss, reduced appetite, abdo pain, musc weakness, deve delay, skin hyperpig (addisions)
ADRENAL INSUFFICIENCY MX
i) which bloods should all children have? what will they show in relation to sodium and potassium?
ii) what cortisol/ACTH/aldo/renin levels are seen in addisions? in secondary adrenal insuff?
iii) which test is used to confirm adrenal insiff? when is it done? how does it work? what indicates primary adrenal insuff?
iv) what two things can be given to replace the deficient hormones? what paperwork should all pts be given? what should happen to tx when there is illness?
v) name four things that should be followed up by an endocrinologist?
i) U+Es - see hyponat and hyperkal
ii) addisons - low cortisol, high ACTH, low aldo, high renin
secondary adrenal insuff - low cortisol, low ACTH, normal aldo, normal renin
iii) short synacthen test (ACTH stim test) - do in morning > give synacthen (synthetic acth) and measure blood cortisol at baseline, 30/60 mins post admin
healthy adrenals should produce cortisol and at least double in response
in addisons - less than double baseline cortisol after synacthen
iv) replace hormones - hydrocortisone to replace cortisol and fludrocortisone to replace aldo
give patients a steroid card and emergency ID tag
increase steroid doses in response to illness
v) follow growth and dev, BP, U+Es, glucose, bone profile, vitamin D
COMPLICATIONS OF ADRENAL INSUFF
i) give three situations when dose of steroid should be increased?
ii) name three presenting features of an addisonian crisis? what is it caused by? what glucose/sodium/potassium levels are seen?
iii) how should steroids be given in AC? name two other things that need to be corrected
i) unwell - temp >38, vomiting, diarrhoea
ii) px with reduced conc, hypotension, hypogly/hyponat/hyperkal
ppt by absence of steroid homrone
iii) give IV steroid (hydrocortisone)
correct hypogly and manage fluids
HYPOTHYROIDISM
i) what is congenital hypothyroidism? which two things can it be a result of? how is it screened for?
ii) how may newborns present? (5)
iii) what is acquired hypothyroidism? what is the most common cause? which antibodies are associated? (2)
iv) name four symptoms of acquired hypothyroid
v) how is it treated?
i) congenital - born with underactive thyroud
can be due to underdev gland or gland that doesnt produce enough hormone
screen for in newborn blood spot screening test
ii) newborns - prolonged neonatal jaundice, poor feeding, constipatiom, increased sleeping, reduced activity, slow dev
iii) acquired - previously functioned normally
autoimmune is most common cause aka hashimotos thyroiditis
auto immune anti TPO and anti thyroglobulin antibodies
iv) fatigue, low energy, poor growth, weight gain, poor school performance, constipation, dry skin and anils
v) treat with levothyroxine
