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Endocrinology Flashcards

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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
What are some causes of GH defc? (5)
``` Isolated defect: Laron syndrome - GH receptor defect / insensitivity Secondary to Panhypopituitarism: Congenital mid-facial defects Craniopharyngioma Hypothalamic tumour Trauma (head injury, meningitis) ```
26
How does the recognition of hypothyroidism Dx/treatment at different times affect final height?
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
27
What chronic illnesses in children may present with short stature? (3)
Crohn's Coeliac Chronic renal failure
28
What chromosomal disorders / syndromes are associated with short stature? (3)
Down's Turner's Russel-Silver
29
How is disproportionate short stature Dx? (3) | What are some (rare) causes? (2)
Sitting ht Subischial length (sitting/standing ht) Radiographic bone survey Skeletic dysplasia Achondroplasia
30
What information must be gathered from the Hx for a child presenting with short stature?
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
What must be looked for O/E in a child presenting with short stature
Dysmorphic features Signs chronic illness (e.g. Crohns, CF, Coeliac) Evidence of endocrine causes (e.g. cushings) Disproportionate? Pubertal stage?
32
What is the natural Hx / age range for the pubertal changes in girls? + in boys
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
What is delayed puberty defined as in males/females?
Absent pubertal development by 14yrs (females) or 15yrs (males)
34
What are some causes of delayed puberty? (7)
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
What Ix can be done in boys (2) + girls (3) presenting with delayed puberty?
Boys: assess pubertal stage, ID any chronic systemic disorders Girls: karyotype (Turner's), thyroid, sex hormones
36
If puberty is decided to be abnormally late/early, what Ix can be done?
``` Hand/wrist X-Ray → bone age measurements Pelvic USS (girls) → assess uterine size/cystic ovaries ```
37
What is premature/precocious puberty defined as in boys/girls?
Premature secondary sexual characteristics < 9yrs (boy) + < 8yrs (girl)
38
What are the categories/causes of precocious puberty? (2:5+4)
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
What will findings from testicular examination tell you about the cause of precocious puberty in a boy?
Bilateral enlargement = gonadotrophin release (intracranial lesion → MRI) Small testes = adrenal cause (tumour/CAH) Unilateral enlargement (gonadal tumour)
40
What are the aims of management of precocious puberty? (3)
Detect/treat any underlying pathology Reduce rate of skeletal maturation Address psychological/behavioural difficulties
41
How is precocious puberty managed in gonadotrophin-dependant causes? + in gonadotrophin-independant causes?
Gonado-dep → GnRH analogues | Gonado-indep → identify source of XS sex steroids + androgen/oestrogen production/action inhibitors
42
What age does premature thelarche occur? How may it present/progress? How is it differentiated from precocious puberty?
Occurs 6m-2yrs Asymmetrical, non-progressive/self-limiting (to stage 3) Differentiated by absence of axillary/pubic hair + growth spurt
43
What is premature pubarche defined as + due to? What ethnicities common on What is there an increased risk of in the future?
= 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
What BMI centile is classed as overweight/obese in children <12yrs?
``` Overweight = >91st Obese = >98th ``` >12yrs - normal adult BMI categories
45
List some syndromes associated with obesity (6)
Down's Turner's Prader-Willi Pseudohypoparathyroidism Laurence-Moon-Biedl Cohen
46
What are some immediate complications of obesity in children? (3)
``` Orthopaedic - e.g. SUFE, abnorm foot structure Idiopathic intracranial hypertension (papilloedema) Hypoventilation syndrome (daytime drowsy, sleep apnoea, hypercapnia, heart failure) ```
47
What are some long-term complications of obesity in children? (8)
``` Hypertension Abnorm blood lipids Asthma Gall bladder disease T2DM PCOS Cancers Psychological ```
48
What are the indications for pharmacological treatment for childhood obesity? (3) + indications for Bariatric surgery? (3)
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
What pharmacological treatments are used for obesity + how do they work?
Orlistat: lipase inhibitor (reduces fat absorption) Metformin: insulin sensitiser / reduces gluconeo / reduces GI glucose absorption
50
What thyroid changes occur after birth in normal baby vs preterm?
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
What is the incidence of congenital hypothyroidism? | List the causes (4)
1 in 4000 (relatively common) Maldescent of thyroid / athyrosis Dyshormogenesis (inborn error thyroid horn synth) Iodine defc (worldwide commonest) TSH defc (panhypopituitarism)
52
List some clinical features of congenital hypothyroidism (12)
Asymp (usually) ``` Cold, mottled skin Hypotonia Macroglossia Myxoedematous facies Goitre Umbilical hernia ``` ``` Prolonged jaundice Constipation Feeding difficulties Failure to thrive Delayed development ```
53
List some clinical features of acquired hypothyroidism (12)
``` 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
How is congenital hypothyroidism usually picked up?
On guthrie test (raised TSH) (unless secondary to pituitary abns which will have low TSH)
55
How is congenital hypothyroidism managed?
Start thyroxine at 2-3wks old (+ titrate dose to maintain normal dose)
56
What is the main cause of hyperthyroidism in children? Who usually seen in? What will thyroid hormone levels show?
Usually due to Graves (thyroid stimulating Igs) Teenage girls TSH low + T3/T4 high
57
What are the clinical features of hyperthyroidism? (sim to adults) (13)
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
What are some of the management options for hyperthyroidism? (3)
B-blockers for symptomatic relief (anxiety/tachy/tremor) Anti-thyroids e.g. carbimazole / propylthiouracil (caution: risk neutropenia) Radioiodine destruction (+lifelong replacement thyroxine)
59
How may T2DM present in children? 4 epidemiological features + 4 clinical features
Minority communities Strong FH Girls Onset 12-16yrs Obesity Hypertension No polydipsia/uria Acanthosis nigricans
60
What are the causes of Cushings in children? (1 common + 2 rare)
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
How can Cushings + obesity be distinguished?
Cushings: short + growth failure Obese: usually over average height
62
How can iatrogenic Cushings disease be managed?
The unwanted SE is markedly reduced by taking the corticosteroid medication in morning on alternate days
63
What are some clinical features of Cushings? (10)
Growth failure/short stature ``` Face+trunk obesity Red cheeks Hirsutism Striae Bruishing Psych probs ``` Hypertension Osteopenia Muscle wasting/weakness
64
What is diabetes insipidus? What is it caused by? How is it treated?
Failure to produce ADH → urine cannot be concentrated Genetic cause Lifelong ADH analogue - desmopressin
65
How does diabetes insipidus present in an infant/young child? (7) + in older children? (3)
``` 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
What Ix is done if suspect GH defc? | How is GH defc treated?
GH provocation test - using insulin/glucagon/clonidine/arginine Daily biosynthetic GH (sub cut) (expensive) OR in Laron syndrome (GH resistance) → recombinant IGF-1
67
What is the incidence of gynaecomastia in boys? What are some rare causes? What investigations may be done?
50% 12-16y/o → Goes away w/o Tx OTC/illegal/drugs Tumours Review meds + LFTs/estradiol/LH/testosterone
68
What is Prader-Willi syndrome? What is the incidence What are some of the features (8) think fat shitty kid
= 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 ```

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