Endocrinology/Growth Flashcards

1
Q

What plasma glucose is considered hypoglycaemia?

A

<2.6

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2
Q

Clinical features of hypoglycaemia? (3)

A
  • Sweating
  • Pallor
  • CNS signs of irritability, 
headache, seizures and coma
  • Neurological sequelae may be permanent if persists
  • → Inc epilepsy, severe learning difficulties and microcephaly
  • Risk greatest in early childhood during period of most rapid brain growth
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3
Q

Causes of hypoglycaemia?

A
  • Common in neonates as high energy requirements
After neonatal period:
Fasting
-	Insulin XS
       •	XS exogenous insulin
       •	β­cell tumours/disorders
       •	Drug ­induced (sulphonylurea)
       •	Autoimmune (insulin receptor antibodies)
       •	Beckwith syndrome 
  • W/O hyperinsulinaemia
    • Liver disease
    • Ketotic hypoglycaemia of childhood
    • Inborn errors of metabolism, e.g. glycogen 
 storage disorders
    • Hormonal deficiency: GH↓, ACTH↓, Addison 
disease, congenital adrenal hyperplasia

Reactive/non-fasting

  • Galactosaemia
  • Leucine sensitivity
  • Fructose intolerance
  • Maternal diabetes
  • Hormonal deficiency
  • Aspirin/alcohol poisoning
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4
Q

What is ketotic hypoglycaemia?

A
  • Poorly ­defined entity in which young children readily become hypoglycaemic after short period of starvation
  • → Due to limited reserves for gluconeogenesis
  • Child often short & thin and insulin levels are low
  • Regular snacks and extra glucose drinks when ill will usually prevent hypoglycaemia
  • Condition resolves spontaneously in later life
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5
Q

Treatment of hypoglycaemia?

A
  • IV infusion of glucose
  • → 2 ml/kg of 10% dextrose followed by 10% dextrose infusion
  • Care to avoid giving XS vol as solution is hypertonic and could cause cerebral oedema
  • If delay in establishing infusion or failure to respond, glucagon given IM (0.5–1 mg)
  • If higher conc than 10% required in neonate → low sugar highly likely to be secondary to hyperinsulinism
  • Corticosteroids used if possibility of hypopituitarism or hypoadrenalism
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6
Q

Triggers of T1DM? (4)

A

enteroviral infections
diet
pos cow’s milk proteins
overnutrition

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7
Q

Common sx of T1DM? (3)

A
  • Polyuria
  • Polydipsia
  • Wt loss
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8
Q

Less common presenting sx of T1DM? (4)

A

Secondary nocturnal enuresis
Skin sepsis
Candida/other infections
DKA

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9
Q

3 investigation findings that confirm T1DM?

A
  • Markedly raised random blood glucose (>11.1 mmol/L)
  • Glycosuria
  • Ketonuria
  • If doubt → fasting blood glucose (>7 mmol/L) or raised HbA1c helpful
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10
Q

What insulin regime are most children started on?

A
  • |nsulin pump or 3-4 times/day injection regimen (basal bolus)
  • → Short acting before snacks (bolus) and long acting in evening (basal)
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11
Q

What is the normal insulin requirement in children?

A
  • 0.5-1 U/kg/day

-  >2 U/kg/day in puberty

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12
Q

What glucose level to aim for in DM?

A

4-6mmol/L

In practice 4-10 in children, 4-8 in adults

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13
Q

HbA1c aim in DM?

A

<7.5% or 58mmol/mol

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14
Q

Why do you need increased insulin in puberty in DM?

A

Antagonised by GH, oestrogen and testosterone

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15
Q

What factors increase glucose levels? (8)

A
  • Insulin omission
  • Food
  • Illness
  • Menstruation
  • GH
  • Corticosteroids
  • Sex hormones at puberty
  • Stress of an operation
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16
Q

What factors decrease glucose levels? (5)

A
Insulin
Exercise
Alcohol
Some drugs
Marked anxiety/excitement
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17
Q

Short term complications of DM? (2)

A
  • Hypoglycaemia

- DKA

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18
Q

What needs to be regularly reviewed in children with DM? (6)

A
  • Growth/ pubertal development
  • BP (1x/y)
  • Renal disease
  • Eyes
  • Feet
  • Other associated illnesses - coeliac + thyroid disease more common
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19
Q

Presenting features of DKA? (8)

A
  • Smell of acetone on breath
  • Vomiting
  • Dehydration
  • Abdo pain
  • Hyperventilation due to acidosis (Kussmaul breathing)
  • Hypovolaemic shock
  • Drowsiness
  • Coma and death
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20
Q

Ix for DKA? (8)

A
  • Blood glucose (>11.1 mmol/L)
  • Blood ketones (>3.0 mmol/L)
  • U&Es, creatinine (dehydration)
  • Blood gas analysis (severe metabolic acidosis)
  • Urinary glucose and ketones (both are 
present)
  • Evidence of a precipitating cause, e.g. 
infection (blood and urine cultures performed)
  • Cardiac monitor for T­wave changes of hypokalaemia
  • Weight
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21
Q

Management priorities in DKA? (6)

A
  • Fluids - correct dehydration over 48-72h
  • Insulin - infusion
  • Potassium (initially high yet need replacement once passed urine)
  • Acidosis (should correct with fluids)
  • Re-establish oral fluids, diet and subcutaneous insulin
  • Identification and treatment of an underlying cause
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22
Q

How is insulin given in DKA?

A
  • Infusion of 0.05-0.1 U/kg/h after 1h, titrating according to blood glucose
  • Do not give bolus and monitor regularly
  • Aim for reduction of 2 mmol/h of blood glucose as rapid reduction dangerous
  • Change to 0.18% saline or 4% dextrose after 24h when blood glucose fallen to 14 mmol/L to avoid hypoglycaemia
  • Do not stop infusion until 1h after subcut
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23
Q

How do you calculate genetic target height for child?

A

Mean of father’s + mother’s height with +7cm for boy, -7 cm for girl

Range given by +/- 10 in boy, +/-8.5 in girl

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24
Q

What are the causes of short stature? (7)

A
  • Familial
  • IUGR/extreme prem
  • Constitutional delay of growth/puberty
  • Endocrine - hypothyroid, GH deficiency, IGF-1 deficiency, steroid XS
  • Nutritional/ chronic illness
  • Psychosocial deprivation
  • Chromosomal disorder/syndrome
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25
Q

What is constitutional delay of growth and puberty?

A
  • Delayed puberty, often familial, usually having occurred in parent of same sex
  • Commoner in males
  • Variation of normal timing of puberty rather than abnormal condition
  • May be induced by dieting or XS physical training
  • Affected child will have delayed sexual changes compared with peers, and bone age would show moderate delay
  • Legs long in comparison to back
  • Eventually target height will be reached
  • Condition may cause psychological upset
  • Onset of puberty can be induced with androgens or oestrogens
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26
Q

What proportion of children with IUGR/ extreme prematurity remain short?

A

1/3

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27
Q

If weight is on higher centile than height and child is short, what cause may this suggest?

A

Endocrine

28
Q

What is Laron syndrome?

A

Defective GH receptors

  • -> GH insensitivity
  • High GH levels, low IGF-1
  • -> Extreme short stature
29
Q

What is Cushing syndrome?

A

Corticosteroid XS

30
Q

Name 3 chronic illnesses that may present with short stature?

A
  • Coeliac
  • Crohn’s
  • Chronic renal failure
31
Q

Name 4 syndromes that may result in short stature?

A

Down’s
Noonan’s
Turner’s
Russel-Silver

32
Q

Sx of Russell-Silver syndrome? (8)

A

Sx include:

  • Arms and legs length differences
  • Cafe-au-lait spots
  • FTT
  • Delayed bone age
  • Short height
  • Swelling of fingers/toes
  • GI reflux
  • Kidney problems
33
Q

Important aspects to ask in history of child presenting with short stature? (7)

A
  • Birth wt, length, head circumference & gestation
  • Pregnancy hx - IUGR, infection, drug/smoking/alcohol
  • Feeding hx
  • Developmental milestones
  • FH of constitutional delay or other diseases?
  • Features of chronic illness- hypothyroid, pituitary tumour, cushing’s, coeliac, Crohn’s, psychosocial deprivation
  • Medications?
34
Q

3 features of puberty in females and usual age?

A
  1. Breast development - 8.5-12.5y (1st sign)
  2. Pubic hair growth & rapid height spurt - almost immediately after breast
  3. Menarche - on av 2.5y after start of puberty (only 5cm growth left)
35
Q

3 features of puberty in males?

A
  1. Testicular enlargement (1st sign)
  2. Pubic hair growth - 10-14y
  3. Height spurt - when testicular vol 12-18ml, usually 18m delay from onset
36
Q

Other features of puberty that occur in both sexes? (4)

A
  • Acne
  • Axillary hair
  • Body odour
  • Mood changes
37
Q

Average blood loss during menarche?

A

<80ml

38
Q

Age cut offs for definition of delayed puberty?

A

Absence of pubertal development by 14 for F and 15 for M

39
Q

Causes of delayed puberty? (3)

A
  • Constitutional delay of growth/puberty (most common)
  • Hypogonadotropic hypogonadism (systemic disease, hypothalamic-pituitary disorders, acquired hypothyroidism)
  • Hypergonadotropic hypogonadism (chromosomal abnormalities, steroid hormone enzyme deficiencies, acquired gonadal damage)
40
Q

Basic Ix for delayed puberty?

A

In boys:

  • Pubertal staging, esp testicular volume
  • Identification of chronic systemic disorders

In girls:

  • Karyotype performed to ID Turner syndrome
  • Thyroid and sex steroid hormones should be measured
41
Q

Drugs used in delayed puberty?

A

Males:

  • Oral oxandrolone in young males
  • Low dose IM testosterone in older males

Females
- Oestradiol

NB treatment not usually required

42
Q

Define precocious puberty

A

Development of secondary sexual characteristics <8yo in F and 9yo in M

When accompanied by growth spurt

43
Q

What is

a) thelarche
b) pubarche?

A

a) Onset of breast development

b) Onset of pubic hair development

44
Q

2 types of precocious puberty?

A
  1. Gonadotropin­-dependent (central, ‘true’ PP) - Premature activation of hypothalamic– pituitary–gonadal axis → raised LH>FSH
  2. Gonadotropin-­independent (pseudo, ‘false’ PP) from XS sex steroids → raised FSH & LH
45
Q

Most common cause of precocious puberty in girls and boys?

A

Girls - idiopathic/familial

Boys - Organic esp intracranial tumours

46
Q

Indications of organic cause of precocious puberty in girls? (3)

A
  • Dissonance (sequence of pubertal changes abnormal), e.g. isolated pubic hair with virilisation of genitalia, suggesting XS androgens from either congenital adrenal hyperplasia or an androgen­secreting tumour
  • Rapid onset
  • Neurological S+S, e.g. 
neurofibromatosis
47
Q

Ix for precocious puberty in girls?

A

USS of ovaries and uterus
- In premature onset of normal puberty, multicystic ovaries and enlarging uterus identified

FSH & LH

48
Q

What examination is done in precocious puberty in boys?

A

Examination of testes:
• Bilateral enlargement suggests gonadotropin release, usually from intracranial lesion

  • Small testes suggest adrenal cause (e.g.
tumour or adrenal hyperplasia)
  • Unilateral enlarged testis suggests gonadal 
tumour

MRI for tumours in hypothalamic region

FSH & LH

49
Q

Overweight & obese BMI in children?

Very severe obese?
Extreme obesity?

A

Overweight - >91st centile
Obese >98th centile
V severe >3.5SD
Extreme >4SD

If >12y - BMI >25, 30, 35 & 40 respectively

50
Q

RFs for obesity? (4)

A
  • Low socio-economic background
  • Time spent in front of small screens
  • High fat intake
  • Low fruit/veg intake
51
Q

Endogenous causes for obesity? (4)

A

Hypothyroidism
Cushing’s
- Short

Prader-Willi
- LD/dysmorphism

Gene defects eg leptin deficiency
- V obese and <3y

52
Q

Complications of obesity? (10)

A
  • Orthopaedic – SUFE, tibia vara (bow legs), abnormal foot structure and function
  • Idiopathic intracranial HTN (headaches, blurred optic disc margins)
  • Hypoventilation syndrome (daytime somnolence; sleep apnoea; snoring; hypercapnia; heart failure)
  • Gallbladder disease
  • PCOS
  • T2DM
  • HTN
  • Abnormal blood lipids
  • Other medical sequelae, e.g. asthma, changes in LV mass, higher risk of malignancies (endometrial, breast and colonic carcinoma)
  • Psychological sequelae – low self­esteem, teasing, depression
53
Q

Syndromes associated with obesity? (6)

A
  • Prader-Willi syndrome
  • Psuedohypoparathyroidism
  • Laurence-Moon-Biedl syndrome
  • Cohen syndrome
  • Down syndrome
  • Turner syndrome
54
Q

Presenting features of T2DM in children? (4)

A
  • Acanthosis nigricans
  • Obesity
  • HTN
  • Strong FH
  • No thirst or increased urination
55
Q

Treatment for T2DM?

A
  • Activity
  • Diet
  • Metformin
  • Potential insulin therapy where required
56
Q

Features of Prader Willi syndrome? (4)

A
  • Hypotonia
  • Developmental delay
  • Hyperphagia (XS desire to eat)
  • Obesity
57
Q

Causes of congenital hypothyroidism? (4)

A

Maldescent of thyroid & athyrosis
- Commonest cause of sporadic congenital hypothyroidism

Dyshormonogenesis

  • Inborn error of thyroid hormone synthesis
  • 5-10% cases

Iodine deficiency
- Commonest cause worldwide, rare in UK

Hypothyroidism due to TSH deficiency

  • Isolated TSH deficiency rare (<1% cases)
  • Usually associated with pan-hypopituitarism (→ hypoglycaemia, micropenis)
58
Q

Clinical features of hypothyroidism?

A

Usually asymptomatic - picked up on screening

Otherwise: 

•	FTT
•	Feeding problems
•	Prolonged jaundice
•	Constipation
•	Pale, cold, mottled dry skin
•	Coarse facies

•	Large tongue

•	Hoarse cry

•	Goitre (occasionally) 
•	Umbilical hernia 
•	Delayed development
59
Q

What is measured to detect hypothyroidism on Guthrie test?

A

TSH

  • Will be high
  • Thyroid dysfunction due to pituitary abnormalities may not be picked up (low TSH)
60
Q

Treatment of congenital hypothyroidism?

A
  • Thyroxine started at 2-3w of age
  • Early treatment essential to prevent LD
  • With treatment, intelligence should be in normal range for majority
  • Thyroxine dose titrated to maintain normal growth, TSH & T4 levels
61
Q

What is juvenile hypothyroidism usually caused by?

A

Autoimmune thyroiditis

62
Q

Clinical features of juvenile hypothyroidism?

LOTS

A
  • Short stature/growth failure → accompanied by delayed bone age
  • Cold intolerance

  • Dry skin

  • Cold peripheries

  • Bradycardia

  • Thin, dry hair

  • Pale, puffy eyes with loss of eyebrows
  • Goitre
  • Slow-relaxing reflexes
  • Constipation

  • Delayed puberty
  • Obesity
  • Slipped upper femoral epiphysis
  • Deterioration in school work
  • Learning difficulties
63
Q

What usually causes hyperthyroidism in children?

A

Graves disease (autoimmune thyroiditis)

64
Q

Treatment of hyperthyroidism?

A
  • 1st line → carbimazole or propylthiouracil (interfere with thyroid hormone synthesis)
  • → Risk of neutropenia – urge to seek help + blood count if sore throat and fever on starting med
  • Treatment given for 2y → should control thyrotoxicosis, but eye signs may not resolve
  • When stopped 40-75% relapse
  • → 2nd course drugs or subtotal thyroidectomy
  • Radioiodine treatment simple and no longer thought to cause neoplasia
  • Follow up needed → often hypothyroid
  • Beta-blockers can be added initially for symptomatic relief of anxiety, tremor, tachycardia
65
Q

Causes of Cushing syndrome in children?

A

NB very rare

ACTH driven
• Pituitary adenoma (older children)
• Ectopic ACTH-producting tumours (v rare in children)

ACTH-independent
• Corticosteroid therapy – MOST COMMON
• Adrenocortical tumours – may also be virilisation (young children)

66
Q

What is diabetes insipidus and sx (3)?

A

Low ADH (posterior pituitary) or kidney has  reduced response to ADH

  • -> - Polyuria
  • Nocturia
  • Polydipsia
67
Q

Causes of GH deficiency? (6)

A
  • Idiopathic (most common)
  • Congenital mid-facial defects
  • CNS tumour – craniopharyngioma, hypothalamic tumour
  • CNS radiation
  • Trauma eg head injury
  • Meningitis