Endocrinology Flashcards

1
Q

What causes t1 diabetes

A

autoimmune destruction of beta cells of the islets of langerhans in the pancreas causing reduced/ no insulin production
Insulin autoantibodies can be detected in genetically predisposed individuals from 6-12 months

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2
Q

how does t1 diabetes present

A
  • polyurea
  • polydipsia
  • weight loss
  • lethargy
  • frequent UTIs
  • may present in DKA: reduced GCS, vomiting, hyperventilation, dehydration
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3
Q

How should suspected T1 diabetes be investigated and what are the criteria for diagnosis

A
  • Random blood glucose >11 or fasting >7 + symptoms
  • Two fasting glucose >7
  • Hba1c > 48/ 6.5%
  • Venous blood glucose >11 two hrs after a 75g glucose (oral glucose tolerance test)
  • Albumin: creatinine ratio
  • TFTs
  • Full lipid profile
  • U&Es and eGFR
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4
Q

What lifestyle advice is given to those with t1 diabetes

A
  • Regular physical activity is important
  • Smoking cessation
  • Medical emergency ID bracelet
  • Dietary advice (++ fruit and veg, low gi foods, dietician rv) and carb counting training
  • DESMOND course
  • always have chips after a night out to prevent hypo
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5
Q

How is insulin therapy managed in t1 diabetes

A
  • Multiple daily injection basal–bolus insulin regimens: injections of short‑acting insulin or rapid‑acting insulin analogue before meals, together with 1 or more separate daily injections of intermediate‑acting insulin or long‑acting insulin analogue. Offer pump therapy if this is not appropriate
  • Training relatives on glucagon usage and educate on hypos
  • Give rapid acting insulin analogues for use during intercurrent illness or hypers- educate about sick day rules
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6
Q

How are pts with T1 diabetes monitored (9)

A
  • clinic appts 4 times a year
  • regular dental checks
  • eye exam every 2 yrs
  • real time continious monitoring if severe frequent hypos, high levels of physical activity or unable to communicate symptoms of hypos
  • thyroid disease screen yrly
  • ACR from first urine sample of day for CKD from age 12
  • HTN yrly from age 12
  • BMI monitoring
  • injection sites
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7
Q

What targets are given to those with T1 diabetes with regard to glucose and Hba1c levels?

A
  • BM of 4-7 on waking and before meals
  • BM of 5-9 after meals
  • at least 5 when driving
  • Hba1c <6.5%
  • measure at least 5 times a day before meals
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8
Q

What causes hypos in t1 diabetes

A
  • alcohol
  • exercise
  • too much insulin
  • missing meals
  • illness
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9
Q

How should mild- moderate hypos (bm<3.9, conscious) be managed?

A
  • 10-20g glucose by mouth (2-4 spoons of sugar in water// 200ml glucojuice)
  • recheck in 15 mins and repeat if persists
  • give complex carb eg toast
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10
Q

How should severe hypos be managed in hospital and in community?

A

hospital: 10% glucose IV up to 500mg/ kg
community: 1mg IM glucagon if >25kg or 8yrs, 0.5mg if <25kg or 8yrs. if symptoms persist for >10 mins get assistance. Give complex carb when normoglycaemic

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11
Q

Other than hypos, give 7 complications of t1 diabetes

A
  • juvenile cateracts
  • DKA
  • necrobiosis lipodica
  • addisons (schmidt syndrome)
  • CKD
  • diabetic retinopathy
  • diabetic neuropathy
  • CVD
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12
Q

How is juvenile cataracts managed?

A
  • lens replacement surgery same as in adults

- it is rare and other causes eg rubella, measles, chicken pox, herpes and metabolic disorders need to be excluded

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13
Q

What is necrobiosis lipoidica?

A
  • Irregularly shaped callous lesions with reddish- brown pigmentation and central atrophy
  • Caused by collagen degeneration with granulomatous response associated with thickened blood vessels and fat deposition
  • Pretibial is commonest, face, scalp, trunk and upper arms are also common
  • Often not painful due to neuropathy but can be very painful
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14
Q

How is necrobiosis lipoidica managed?

A
  • very hard to managed
  • avoid trauma to prevent ulcers
  • good wound care
  • steroids
  • immunomodulatory drugs
  • phototherapy
  • aspirin
  • excision
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15
Q

What is schmidts syndrome and how does it present

A
  • Addisons + t1 diabetes= Schmidt syndrome
  • CFs: muscle weakness/ pain, hyperpigmentation of skin, fatigue, mood irregularity, salt craving, postural hypotension, weight loss, nausea and/ or diarrhoea, abdo pain
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16
Q

How should DKA be managed (if unwell/ vomiting/ dehydrated/ not alert)?

A
  • ABCDE and 2x large bore cannula
  • 10ml/kg NS over 1 hr (if BP <90mmHg give 20ml/kg over 15 mins, then reassess, call ITU if still low after 2nd bolus)
  • add 50 units human actrapid to 50ml NS and start fixed rate infusion at 0.1 units/ hr/kg (0.5 if age<5) and continue until resumes normal insulin regime
  • monitor closely, aim for drop of 3mmol/L/hr glucose and increase insulin if needed- check VGB at 2, 4, 8, 12 and 24 hrs
  • give next L fluid over 2 hrs, next over 4 and next over 12 until fluid replaced - aim to replace fluid over 48hrs
  • K+ will start moving back into cells so add 40mmol K+/ L bag to subsequent bags
  • when glucose is <14 start 10% dextrose at 125ml/hr alongside saline to avoid hypos, if ketones <3 reduce insulin to 0.05unit/kg/hr
  • if glucose ever <6, DONT STOP INSULIN IF KETONES still<1- increase dextrose
  • continue with fixed rate infusion until ketones <1 and ph >7.3 and drinking normally then start SC insulin and stop infusion 30 mins after
  • Hourly BMs, fluid balance and neuro obs (worry about cerebral odema), U&Es 2 hrly then 4 hrly, ketones 1-2 hrly
  • find and treat cause
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17
Q

What may cause congenital hypothyroidism

A
  • insufficient iodine intake in pregnancy
  • levothyroxine intake in pregnancy
  • defect/ aplasia of thyroid gland
  • 30% resolve by age 3 but most need replacement throughout life
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18
Q

What may cause acquired hypothyroidism in children

A
  • hasimotos
  • lack of iodine
  • radiation
  • lithium
  • infiltrative disease
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19
Q

How does hypothryoidism present in children?

A
  • CFs similar to adults: fatigue, constipation, coarse dry hair, weight gain
  • CFs only in children: slow growth, delayed puberty, delayed tooth development, goitre
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20
Q

What is screened for antenatally?

A
  • sickle cell and thalasssemia early (blood test)
  • downs (screening blood test and USS at 12/13 weeks)
  • other abnormalities eg cardiac, limb, GI at detailed 20 week scan
  • infectious diseases in mother (HIV, syphilis, Hep B, rubella)
  • preeclampsia, diabetes and placenta previa screening also
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21
Q

Describe what is involved in a newborn and infant physical examination (NIPE)

A
  1. EYES: mainly looking for cateracts and retinoblastoma
  2. HEART: for congenital disease
  3. HIPS: for congenital dysplasia of the hips
  4. TESTIS: for cryptochidism
  5. GENERAL APPEARANCE: for downs etc
22
Q

Describe the difference between a significant and a benign murmur

A

Significant: loud, over wide area, harsh tone, other abnormal findings
Benign: soft, short, systolic, localised to one area (usually L sternal edge), no added sounds or abnormalities

23
Q

What finding suggests a newborn has a cateracts

A
  • absent red reflex

- white red reflex suggests retinoblastoma

24
Q

What is screened for on the newborn heel prick test? (10)

A
  • congenital hypothyroidism
  • CF
  • PKU
  • Sickle cell
  • MCADD
  • isovaleric acidaemia
  • glutaric aciduria type 1
  • homocystineuria
  • maplesyup urine disease
  • B thalassaemia major
25
Q

What level of TSH is diagnostic for hypothyroidism?

A

<8. If its >8 repeat twice and if mean is <8 then its diagnostic. If <20 refer for suspected CHT.

26
Q

How may congenital hypothyroidism present other than with blood tests?

A

May present with prolonged jaundice, constipation and feeding problems/ failure to thrive but usually asymptomatic due to maternal T4 and small amounts of functioning thyroid tissue. Leads to intellectual impairment if untreated

27
Q

How is cystic fibrosis diagnosed? (describe test)

A
  • raised immunoreactive trypsin (IRT) on blood spot, meconium ileus or prolonged jaundice
  • then sweat test or CTFR gene mutation identification
  • pilocarpine is used to induce sweat, mild electrical current pushes medicine into skin, pad collects sweat, need >100mcg of sweat to diagnose
28
Q

What is MCADD and how is it managed?

A

Inability to utilise fat stores, leads to encephalopathy rapidly after fasting. Manage by avoid fasting + emergency regime

29
Q

How is maple syrup urine disease managed?

A
  • low protein diet
30
Q

How and when is hearing tested

A

Within first 5 weeks, using automated optoacoustic emission. Its repeated twice if they fail first. This helps pick up hearing disorder that otherwise present with developmental delay

31
Q

What signals the start of puberty

A
  • increase in frequency and amplitude of GnRH, leading to LH and FSH release, causing testosterone/ estradiol release
32
Q

Describe the sequence of changes in puberty for females

A
  • starts between age 8-14
  • breast bud development is first sign
  • pubic and axillary hair growth is sign of adrenal androgen secretion
  • menarche usually occurs 2-3 yrs after the start of breast development
  • growth spurt occurs earlier than in boys
33
Q

Describe the sequence of changes in puberty for males

A
  • starts between 9 and 14
  • testicular enlargement is first sign- dependant on FSH release
  • progressive signs of androgen excess: penile enlargement, pubic hair growth
  • later signs of puberty inc growth spurt, voice deepening, facial hair growth
  • growth starts with hands and feet and move proximally to finish with te trunk
34
Q

What clinical features indicate precocious pseudopuberty? What can cause this

A
  • signs of androgen excess (penile enlargement, hair growth) before testicular enlargement/ breast bud development
  • suggests androgens from different source eg congenital adrenal hyperplasia, adrenal tumours, cushings, testicular tumours)
35
Q

Define delayed puberty for boys and girls

A
  • absence of testicular development (volume <4ml) by age 14 for males
  • absence of breast development by 13 yrs or primary amenorrhoea with normal breast development by age 15
  • most simply have constitutional delay in growth and puberty (GDGP) and need no investigation
36
Q

Other than constitutional delay, list 5 central causes of delayed puberty?

A
w/ Intact HPA: 
- chronic illness
- malnutrition
- excess physcial activity
- steroids
- hypothyroidism
- psychosocial deprivation
Impaired HPA:
- tumours near HPA
- congenital anomalies
- irradiation treatment
- trauma (head or surg)
- isolated hypogonadotrophic hypogonadism
37
Q

What is isolated hypogonadotrophic hypogonadism?

A
  • low gonadotrophins and sex steroid levels in absences of other anomalies in the HPA- gonadal system
  • other associated features inc cyptorchidsm, micropenis, cleft lip/ palate, dental agenesis, skeletal abnormalities, hair loss
38
Q

Give 3 peripheral causes of delayed puberty in boys and girls

A

Male:
- bilateral testicular damage (cyptorchidism, atresia, torsion etc)
- gonadal dysgenesis
- irradiation to testis
- drugs like cyclophosphamide
Females:
- gonadal dysgenesis: turners, prader willi
- irradiation
- drugs
- intersex disorders : AIS, congenital adrenal hyperplasia
- PCOS

39
Q

How should delayed puberty be assessed?

A
  • History: growth pattern (CDGP usually has long standing short stature), general health, gonadal impairment, family patterns, psycosocial problems, sports
  • Exam: height, weight, pubertal staging, dysmorphic features, fundoscopy, eye feilds (pituitary tumour), signs of chronic disease (eg clubbing, anaemia)
40
Q

What investigations can be ordered for delayed puberty (if any indicated)

A
  • Basal FSH, LH, serum estadiol/ testosterone: LH and FSH low in CDGP or hypogonadotrophic hypogonadism and elevated in gonadal failure
  • prolactin and IGF1 (low in GH deficiency)
  • GnRH and growth hormone tests
  • karyotyping if ?chromosomal abnromality
  • FBC, ferritin, U&E, coeliac screen
  • Pelvic USS if female
  • wrist x ray for bone age: delayed in CDGP, GH deficiency and hypothyroid
  • rarely MRI or CT head for pituitary disorders
41
Q

How is CDGP managed?

A
  • short courses sex hormones may be used to help them catch up with peers. Testosterone for 3-6 months can be used to induce puberty in boys. Girls get gradually increasing doses of oestrogen with cyclical progesterone therapy once adequate oestrogen levels achieved
42
Q

How is primary testicular and ovarian failure managed?

A
  • induction followed by ongoing hormone replacement therapy
  • regular injections of testosterone for boys
  • girls get gradually increasing oestrogen doses to avoid premature fusion of epiphyses then cyclical progesterone then low dose COCP
43
Q

Define precocious puberty for boys and girls

A

Puberty development before age 8 in girls and 9 in boys. Usually benign in females but rarely idiopathic in boys.

44
Q

What causes gonadotrophin dependant (or central) precocious puberty?

A
  • no cause found in 80% girls and 40% boys
  • Tumours: gliomas, astrocytomas, hCG secreting germ cell tumours)
  • CNS trauma or infections
  • hamatomas or hypothalamus
  • hydrocephalus or arachnoid cysts
45
Q

What causes gonadotrophic independant precocious puberty (high testosterone/ oestrogen with low LH, FSH, GnRH)

A
  • congenital adrenal hyperplasia
  • HCG secreting tumours
  • ovarian/ testicular tumours
  • mcCune- albright syndrome
  • silver russel syndrome
  • Testotoxicosis: familaial syndrome with rapid growth, skeletal maturation and sexually aggressive behaviour in first 2-3 yrs of life (v v rare)
46
Q

What is non progressive precocious puberty?

A

Following signs of early puberty, the situation stabilises or regresses and continues at correct time

47
Q

What is isolated precocious pubarche, isolated precocious menarche and isolated precocious thelarche?

A

Pubarche: early pubic hair development without other features of puberty, may be present in boys or girls age <7 due to adrenal androgen secretion in middle of childhood
Thelarche: early breast bud development without other features may occur in those <3 and spontaneously regresses.
Menarche: isolated early vaginal bleeding in absence of other causes or features

48
Q

What investigations may be done for precocious puberty?

A
  • sex steroid levels
  • LH and FSH (distinguish between gonadotrophin dependant and independant)
  • GnRH
  • TFTs
  • adrenal steroid precursors if suspect congenital adrenal hyperplasia
  • HCG if ? testicular tumour
  • pelvic USS if gonadotrophin independant PP to detect ovarian cysts or tumours
  • testicular USS if ? tumour
  • MRI if ? adrenal tumour
  • wrist x ray for bone age
49
Q

How is precocious puberty managed?

A
  • puberty can be arrested and GH given for CPP if height prognosis is poor, otherwise its left
  • surgery to remove tumours
  • GnRH agonists for gonadotrophin depenant causes (they overstimulate pituitary and cause desensitisation, so less LH and FSH produced.
50
Q

Describe the signs, symptoms and biochemical abnormalities of DKA

A

Signs: dehydrated, hyperventilation, smell of ketones, lethargic, drowsy, reduced GCS
Symptoms: polydipsia, polyuria, weight loss, enuresis, tiredness, vomiting, confusion, abdo pain
BIOCHEM:
- glucose >11 (not always)
- pH >7.3 or bicarb >15 (mod= 7.1-2, severe= <7.1)
- Ketones in blood <3