Endocrinology Flashcards

1
Q

What are the RFs for neonatal hypoglycaemia in the first 24hrs? (7)

A

IUGR (poor glycogen stores)
Preterm (poor glycogen stores)

Maternal DM (sufficient glycogen but islet hyperplasia/ hyperinsulinaemia)
LGA

Hypothermic
Polycythaemic
Ill any reason

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2
Q

What are some features of neonatal hypoglycaemia? (5)

A

Apnoea/tachypnoea
Tachycardia
Sweating

CNS signs:
Lethargy/drowsy/coma
Jittery/ Irritable/ Seizures

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3
Q

Why can many newborns tolerate low blood glucose levels?

What level is optimum for neurodevelopment?

A

Can use lactate + ketones as energy stores

Glucose >2.6 for neurodevel (long-term → permanent neuro-disability)

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4
Q

What are some clinical features of hypoglycaemia in children (not neonates) (3)

A

Sweating
Pallor
CNS signs (irritability, headache, seizures, coma)

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5
Q

What are some causes of hypoglycaemia in children (8)

A

Fasting

XS insulin: DM, B-cell tumours, drugs (sulphonylureas), autoimm (insulin-R Abs), Beckwith syndrome

W/o hyperinsulinaemia: liver disease, ketotic hypogly, congen metabolism error

Galactosaemia
Fructose intolerance
Maternal DM
Hormonal defc
Aspirin/alc poisoning
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6
Q

What is the incidence of T1DM in U16s
What countries commoner from?
RFs (2)

A

2 in 1000 by 16y/o
Commoner in northern countries
RFs: identical twin or mat/paternal affected (pat>mat)

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7
Q

What is the typical presentation of T1DM before DKA? (4)

What are some less common symptoms? (3)

A

Polyuria
Polydipsia
Wt loss
Nocturnal enuresis in young children

Enuresis
Skin sepsis
Thrush

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8
Q

How is an official Dx of T1DM made?

A

Glucose > 11.1, Glycosuria + Ketonuria

if doubt then fasting glucose > 7 or raised HbA1c

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9
Q

What circumstances would you suspect T2DM in a child? (3)

A

Indian
FH
Severely obese
+ signs of insulin resistance

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10
Q

What information is given in the intensive educational programme after a Dx of T1DM? (7)

A
Basic understanding
Injection techniques
Diet
Adjustments for sickness/exercise
Blood glucose checks
Recongition of hypo
Support groups / psych support
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11
Q

What advice can be given about injection technique in T1DM? What sites?

A

Antero-lateral thigh, buttocks + abdo

To avoid lipohypertrophy: rotate sites + pinch/45degree angle

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12
Q

What sort of diet is recommended for T1DM

A

High complex carbs
Low fat content
High fibre
Avoid high sugar content foods

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13
Q

What blood glucose should be aimed for in children with T1DM?

What HbA1c should be aimed for?

A

BM 4-6 (in reality 4-10 to avoid hypo)

HbA1c <7.5% or <58mmol/mol

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14
Q

At what glucose levels will well-defined hypoglycaemic symptoms develop in children?

What is the initial management?

A

Glucose < 4

Initially sugary drink then → IM glucagon

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15
Q

What problems with T1DM are faced in adolescence / puberty? (2)
How can these be dealt with?

A

Adherence (smoking, alcohol, drugs, body image)
Increased insulin need due to antagonistic GH / oestrogen / testosterone

Establish short-term goals (avoid hypos, normal home/school life)
United team approach
+ve peer pressure from activities

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16
Q

What are the problems faced in T1DM (children all ages)? (7)

A
Sweets
Exercise
Eating disorders
Family disturbance e.g. divorce
Lack of motivation / support
Unreliable glucose monitoring
Illness (common in young) affects appetite + increases insulin requirement
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17
Q

What are the long term complications of T1DM? (7) + how are these monitoring

A

Growth/pubertal development (poss some delay + obesity common in esp girls)
Retinopathy - check 5yrly
Feet - encourage good care
BP - check yrly
Renal - screen for microalbuminuria
Coeliac - low threshold for autoimmune Ix
Thyroid - low threshold for autoimmune Ix

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18
Q

List some presentation features of a DKA? (8)

A
Acetone breath (pear drops)
Vomiting
Dehydration
Abdo pain
Hyperventilation (acidosis)
Hypovolaemic shock
Drowsiness
Coma/death
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19
Q

What essential/early Ix are done in DKA? (7)

A
Blood glucose (bedside + lab)
Urinary glucose/ketones
Blood gas (acidosis)
U&amp;Es (dehydration)
ECG (t-wave changes with hypokalaemia)
Weight
Any precipitating cause e.g. infection (blood/urine cultures)
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20
Q

Describe the stepwise approach management of a DKA? (in order or priority) (6) (FIPARI)

A

Fluids - if in shock resuscitate w. normal saline (+ monitor fluid balance /U&Es)

Insulin infusion - 0.05-0.1U/kg/hr, titrated to blood glucose, not as bolus, change fluid to dextrose when <14

Potassium (initial rise then fall) - replace once urine passed, continuous cardiac monitoring

Acidosis - correct with fluids/insulin (monitor capillary ketones), avoid HCO3- unless shocked/unresponsive to Tx

Re-establish oral fluids, diet + subcut insulin

ID/Treat underlying cause

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21
Q

What are the RFs/associations with constitutional delay in growth? (3)
What physical features seen? (4)

A

FH (occurred in parent of same sex)
XS exercise / diet
Males commoner

Delayed sexual changes for age
Bone age delay
Long legs/back
Eventually should reach target height

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22
Q

What are some causes of short stature? (1+10)

A
Non-pathological: constitutional delay in growth
Pathological:
Familial
IUGR / extreme prematurity
Chromsomal disorder / syndromes
Disproportionate short stature

Hypothyroidism
GH defc
XS corticosteroids / Cushings syndrome

Nutrition
Chronic illness
Psychosocial deprivation

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23
Q

What measurement is the best indicator of growth failure?

What value is classed as abnorm

A
Height velocity (sensitive indicator)
Persistently <25th centile is abnormal
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24
Q

How is the genetic target height estimated? (boys/girls)

A

Mid-parental height =
Mean of mums/dads
+7cm (boys)
-7cm (girls)

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25
Q

What are some causes of GH defc? (5)

A
Isolated defect:
Laron syndrome - GH receptor defect / insensitivity
Secondary to Panhypopituitarism:
Congenital mid-facial defects
Craniopharyngioma
Hypothalamic tumour
Trauma (head injury, meningitis)
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26
Q

How does the recognition of hypothyroidism Dx/treatment at different times affect final height?

A

Congenital hypothyroidism Dx - no long-term effects on stature
Not Dx for yrs → short stature

Once treated → rapid catch up growth/entry in puberty → limits final height

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27
Q

What chronic illnesses in children may present with short stature? (3)

A

Crohn’s
Coeliac
Chronic renal failure

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28
Q

What chromosomal disorders / syndromes are associated with short stature? (3)

A

Down’s
Turner’s
Russel-Silver

29
Q

How is disproportionate short stature Dx? (3)

What are some (rare) causes? (2)

A

Sitting ht
Subischial length (sitting/standing ht)
Radiographic bone survey

Skeletic dysplasia
Achondroplasia

30
Q

What information must be gathered from the Hx for a child presenting with short stature?

A

Birth: length/wt /head circ / gestational age
Pregnancy: IUGR, infection, alc/smok/drug use
Feeding Hx
Developmental milestones
Features of chronic illness / endocrine causes
Medications e.g. corticosteroids
FH - constitutional delay (parental development ages), consanguinity

31
Q

What must be looked for O/E in a child presenting with short stature

A

Dysmorphic features
Signs chronic illness (e.g. Crohns, CF, Coeliac)
Evidence of endocrine causes (e.g. cushings)
Disproportionate?
Pubertal stage?

32
Q

What is the natural Hx / age range for the pubertal changes in girls?

+ in boys

A

Breast development 8-13y/o
→ Pubic hair growth → Rapid height spurt (shortly after)
→ 2.5yrs later menarche

Testicular enlargement (>4ml) 10-14y/o
→ Pubic hair growth
→ Height spurt 18m later (later+greater than females)

33
Q

What is delayed puberty defined as in males/females?

A

Absent pubertal development by 14yrs (females) or 15yrs (males)

34
Q

What are some causes of delayed puberty? (7)

A

Constitutional delay of growth+puberty (commonest cause)

Low gonadotrophin secretion:
Acquired hypothyroidism
Hypothalamo-pituitary disorders (intracranial tumour + GH defc)
Systemic diseases (CF, Asthma, Crohn's, anorexia)

High gonadotrophin secretion:
Csomal abns
Steroid hormone enzyme defc
Acquired gonadal damage

35
Q

What Ix can be done in boys (2) + girls (3) presenting with delayed puberty?

A

Boys: assess pubertal stage, ID any chronic systemic disorders

Girls: karyotype (Turner’s), thyroid, sex hormones

36
Q

If puberty is decided to be abnormally late/early, what Ix can be done?

A
Hand/wrist X-Ray → bone age measurements
Pelvic USS (girls) → assess uterine size/cystic ovaries
37
Q

What is premature/precocious puberty defined as in boys/girls?

A

Premature secondary sexual characteristics < 9yrs (boy) + < 8yrs (girl)

38
Q

What are the categories/causes of precocious puberty? (2:5+4)

A

Gonadotrophin dependant (raised LH > raised FSH) = premature activation of H-P axis
→ Idiopathic/familial
→ Hypothyroidism
CNS abns:
→ congenital (hydrocephalus)
→ acquired (post-irradiation, infection, surg)
→ Tumour

Gonadotrophin independant (low LH + low FSH) (rare)
→ Adrenal disorders (tumour, CAH)
→ Exogenous sex steroids
→ Ovarian tumour (granulosa cell)
→ Testicular tumour (Leydig)
39
Q

What will findings from testicular examination tell you about the cause of precocious puberty in a boy?

A

Bilateral enlargement = gonadotrophin release (intracranial lesion → MRI)

Small testes = adrenal cause (tumour/CAH)

Unilateral enlargement (gonadal tumour)

40
Q

What are the aims of management of precocious puberty? (3)

A

Detect/treat any underlying pathology
Reduce rate of skeletal maturation
Address psychological/behavioural difficulties

41
Q

How is precocious puberty managed in gonadotrophin-dependant causes?
+ in gonadotrophin-independant causes?

A

Gonado-dep → GnRH analogues

Gonado-indep → identify source of XS sex steroids + androgen/oestrogen production/action inhibitors

42
Q

What age does premature thelarche occur?
How may it present/progress?

How is it differentiated from precocious puberty?

A

Occurs 6m-2yrs
Asymmetrical, non-progressive/self-limiting (to stage 3)

Differentiated by absence of axillary/pubic hair + growth spurt

43
Q

What is premature pubarche defined as + due to?

What ethnicities common on
What is there an increased risk of in the future?

A

= pubic hair <8yrs (girls) <9yrs (boys)
Due to accentuation of normal adrenal androgen maturation (adrenarche)

Commoner in Afro-Caribbean + Asian

Increased risk developing PCOS later

44
Q

What BMI centile is classed as overweight/obese in children <12yrs?

A
Overweight = >91st
Obese = >98th

> 12yrs - normal adult BMI categories

45
Q

List some syndromes associated with obesity (6)

A

Down’s
Turner’s
Prader-Willi

Pseudohypoparathyroidism
Laurence-Moon-Biedl
Cohen

46
Q

What are some immediate complications of obesity in children? (3)

A
Orthopaedic - e.g. SUFE, abnorm foot structure
Idiopathic intracranial hypertension (papilloedema)
Hypoventilation syndrome (daytime drowsy, sleep apnoea, hypercapnia, heart failure)
47
Q

What are some long-term complications of obesity in children? (8)

A
Hypertension
Abnorm blood lipids
Asthma
Gall bladder disease
T2DM
PCOS
Cancers
Psychological
48
Q

What are the indications for pharmacological treatment for childhood obesity? (3)
+ indications for Bariatric surgery? (3)

A

Dietary/exercise/behavioural approaches tried
>12yrs + BMI > 40
or BMI >35 + complications (HT/T2DM)

Almost achieved maturity
All other interventions failed
Severe/extreme obesity + complications

49
Q

What pharmacological treatments are used for obesity + how do they work?

A

Orlistat: lipase inhibitor (reduces fat absorption)
Metformin: insulin sensitiser / reduces gluconeo / reduces GI glucose absorption

50
Q

What thyroid changes occur after birth in normal baby vs preterm?

A

Fetus - mainly produces inactive reverse T3

After birth - TSH → increased T3/T4 → lower TSH (norm adult range within 1wk)
Preterm - v low T4 levels in 1st few weeks (req thyroxine until TSH in normal range)

51
Q

What is the incidence of congenital hypothyroidism?

List the causes (4)

A

1 in 4000 (relatively common)

Maldescent of thyroid / athyrosis
Dyshormogenesis (inborn error thyroid horn synth)
Iodine defc (worldwide commonest)
TSH defc (panhypopituitarism)

52
Q

List some clinical features of congenital hypothyroidism (12)

A

Asymp (usually)

Cold, mottled skin
Hypotonia
Macroglossia
Myxoedematous facies
Goitre
Umbilical hernia
Prolonged jaundice
Constipation
Feeding difficulties
Failure to thrive
Delayed development
53
Q

List some clinical features of acquired hypothyroidism (12)

A
Female > Males
Short stature/growth failure
Bradycardia
Dry, thin hair
Dry skin
Pale puffy eyes (+loss of eyebrows)
Delayed puberty
Cold peripheries/intolerance
Obesity
Goitre
Learning difficulties
Constipation
54
Q

How is congenital hypothyroidism usually picked up?

A

On guthrie test (raised TSH) (unless secondary to pituitary abns which will have low TSH)

55
Q

How is congenital hypothyroidism managed?

A

Start thyroxine at 2-3wks old (+ titrate dose to maintain normal dose)

56
Q

What is the main cause of hyperthyroidism in children?
Who usually seen in?
What will thyroid hormone levels show?

A

Usually due to Graves (thyroid stimulating Igs)
Teenage girls
TSH low + T3/T4 high

57
Q

What are the clinical features of hyperthyroidism? (sim to adults) (13)

A

Sweating
Heat intolerance
Anxiety/tremor
Psychosis

Wt loss
Increased appetite
Diarrhoea
Rapid ht growth

Tachycardia
Warm vasodilator periphs

Goitre
Learning difficulties
Eye signs (less common < adults)

58
Q

What are some of the management options for hyperthyroidism? (3)

A

B-blockers for symptomatic relief (anxiety/tachy/tremor)
Anti-thyroids e.g. carbimazole / propylthiouracil (caution: risk neutropenia)
Radioiodine destruction (+lifelong replacement thyroxine)

59
Q

How may T2DM present in children? 4 epidemiological features + 4 clinical features

A

Minority communities
Strong FH
Girls
Onset 12-16yrs

Obesity
Hypertension
No polydipsia/uria
Acanthosis nigricans

60
Q

What are the causes of Cushings in children? (1 common + 2 rare)

A

SE of long-term glucocorticoid therapy (e.g. asthma, nephrotic syndrome, bronchopulm dysplasia)

ACTH-driven (pituitary adenoma - olders)
Adrenocortical tumours (would also see virilisation)
61
Q

How can Cushings + obesity be distinguished?

A

Cushings: short + growth failure
Obese: usually over average height

62
Q

How can iatrogenic Cushings disease be managed?

A

The unwanted SE is markedly reduced by taking the corticosteroid medication in morning on alternate days

63
Q

What are some clinical features of Cushings? (10)

A

Growth failure/short stature

Face+trunk obesity
Red cheeks
Hirsutism
Striae
Bruishing
Psych probs

Hypertension
Osteopenia
Muscle wasting/weakness

64
Q

What is diabetes insipidus?
What is it caused by?
How is it treated?

A

Failure to produce ADH → urine cannot be concentrated
Genetic cause
Lifelong ADH analogue - desmopressin

65
Q

How does diabetes insipidus present in an infant/young child? (7)
+ in older children? (3)

A
Earliest signs:
Vigorous suck with vomiting
Fever w/o apparent cause
Constipation
Excessively wet nappies

Failure to thrive
Poor feeding
Irritability

Later signs:
H/o polyuria + polydipsia
Extreme dehydration
Nocturnal enuresis

66
Q

What Ix is done if suspect GH defc?

How is GH defc treated?

A

GH provocation test - using insulin/glucagon/clonidine/arginine

Daily biosynthetic GH (sub cut) (expensive)

OR in Laron syndrome (GH resistance) → recombinant IGF-1

67
Q

What is the incidence of gynaecomastia in boys?
What are some rare causes?
What investigations may be done?

A

50% 12-16y/o → Goes away w/o Tx

OTC/illegal/drugs
Tumours

Review meds + LFTs/estradiol/LH/testosterone

68
Q

What is Prader-Willi syndrome?
What is the incidence
What are some of the features (8) think fat shitty kid

A

= 2copies of come 15q11-13 from maternal side
1 in 15-30,000 (sporadic > familial)

Dysmorphic facial features (round face, smooth philtrum)
Hypotonia
Obesity/XS appetite
Undescended testes
Small stature
Devel delay
LDs
Behav probs