Endocrinology and Growth Flashcards

1
Q

What causes hypoglycaemia in neonates?

A
  • IUGR and prems - poor glycogen stores
  • maternal DM - hyperplasia of islet cells –> high insulin
  • large for date
  • hypothermia
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2
Q

How does hypoglycaemia present in neonates?

A
Jitteriness
Irritability
Apnoea
Lethargy
Drowsiness and seizures
Sweating
Tachycardia and tachypnoea
Coma
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3
Q

What causes hypoglycaemia in children?

A

Fasting (children shouldn’t be starved longer than 4 hours)
Insulin excess - iatrogenic with DM, beta-cell tumours, autoimmune
Inborn error of metabolism
Fructose intolerance
Aspirin/alcohol poisoning

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4
Q

What is ketotic hypoglycaemia?

A

Young children become hypoglycaemic following short period of starvation
Limited reserves for gluconeogenesis
Child is short and thin with low insulin levels
Give regular snacks and glucose drinks and should grow out of it

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5
Q

What is the epidemiology of diabetes?

A

2/1000 children by 16
Most common in Scotland and Finland

Identical twin has 40% chance
1/40 if father has it
1/80 if mother does

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6
Q

How is diabetes diagnosed?

A

Glucose >11.1 mmol/L
Glucosuria
Ketonuria

Fasting glucose >7 mmol/L

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7
Q

How is diabetes managed?

A

Bolus injections pre meals
Basal injections in evening

High complex carbs and low fat diet

Insulin needed will rise during puberty due to antagonistic effects of GH

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8
Q

How does DKA present?

A

Acetone on breath, vomiting, dehydration, abdo pain, hyperventilation, hypokalaemia

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9
Q

How is DKA managed?

A

Fluids - correct dehydration gradually to avoid cerebral oedema
Insulin - correct blood sugar gradually
Potassium

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10
Q

What are causes of short stature?

A

Familial
IUGR and extreme prematurity - ?GH treatment
Delay of growth and pubety - delayed sexual changes but should reach target height
Endocrine - hypothyroidism, GH deficiency, steroid excess (esp if child is overweight)
Nutritional illness
Chromosomal disorder
Disproportional short stature

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11
Q

What is Russell-Silver syndrome?

A

Disorder present from birth that involves poor growth, low birth weight, short height and differences in size of two halves of body

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12
Q

What is normal puberty in females?

A

Breast development - 8.5-12.5
Pubic hair growth and rapid height spurt at same time
Menarche 2.5 years after start of puberty (only 5cm height gain remaining)

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13
Q

What is normal puberty in males?

A

Testicular enlargement is the first sign
Pubic hair growth between 10 and 14 years
Height spurt when testicular volume is 12-15ml

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14
Q

What is delayed puberty?

A

14 years in females
15 years in males

More common in males

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15
Q

What are causes of delayed puberty?

A

Constitutional delay in puberty and growth - familial, induced by exercise or dieting

Low gonadotrophin secretion - systemic diseae, aquired hypothyroidism or hypo-pituitary disease

High gonadotrophin secretion - chromosomal abnormalities, steroid enzyme deficiencies, aquired gonadal damage

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16
Q

How is delayed puberty investigated?

A

Assess pubertal staging
Identify systemic disorders and Turners in girls
Measure sex and steroid hormones
Bone age measurements

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17
Q

What is obesity?

A

> 30 BMI - probably more due to decreased activity

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18
Q

What are complications of obesity?

A

Orthopaedic problems - abnormal foot structure
Idiopathic intracranial hypertension (headaches, blurred optic disc margins)
Hypoventilation syndrome - daytime sleepiness, snoring, hypercapnia, heart failure
Gall bladder disease
T2DM
HTN
Abnormal blood lipids
PCOS

19
Q

What drugs are available for obesity?

A

Orlistat - lipase inhibitor –> steatorrhoea

Metformin - decreases GI glucose absorption

20
Q

What syndromes are associated with obesity?

A
Prader-Willi
Pseudohypoparathyroidism
Laurence-Moon-Biedl syndrome
Cohen syndrome
Downs syndrome
Turner syndrome
21
Q

What is precocious puberty?

A

Development of secondary sexual characteristics before 8 in girls and 9 in boys

22
Q

What causes precocious puberty?

A

Gonadotrophin dependent on premature activation of hypothalamic-pituitary gonadal axis

Gonadotrophin independent from excess sex steroids

23
Q

What are the thyroid levels in a neonate?

A

Fetus produces reverse T3 which is inactive
After birth there is an increase in TSH –> increase in T3 and T4
Prems may have low T4 for first few weeks but if TSH is in normal range then no thyroxine needed

24
Q

What are causes of congenital hypothyroidism?

A

Maldescent of thyroid and athyrosis
Dyshormonogenesis - inborn error of synthesis (INCEST)
Iodine deficiency - rare in UK
TSH deficiency - rare

25
Q

How does congenital hypothyroidism present?

A
Asymptomatic and found on screening
Failure to thrive
Prolonged jaundice
Constipation
Large tongue
Umbilical hernia
Goitre
26
Q

How does acquired hypothyroidism present?

A
Females>males
Short stature/growth failure
Cold intolerance
Dry skin
Cold peripheries
Bradycardia
Thin, dry hair
Goitre
Pale, puffy eyes with loss of eyebrows
Delayed puberty
27
Q

How does hyperthyroidism present?

A

Mainly Grave’s disease
Eye signs less common
Low TSH and high T3/4

Anxiety
Increased appetite
Sweating
Diarrhoea
Weight loss
Rapid height growth
Tremor
tachycardia
Warm, vasodilated peripheries
Goitre
28
Q

How is hyperthyroidism treated?

A

Carbimazole or propylthiouracil

beta-blockers for symptomatic relief

29
Q

How does T2DM present in children?

A
Common in minority girl 12-16 years
Acanthosis nigricans
Obesity
Hypertension
No thirst or increased urination
30
Q

What are causes of Cushing syndrome?

A

Glucocorticoid excess usually due to long term treatment for asthma, nephrotic syndrome or bronchopulmonary dysplasia
Improve by taking mediation in morning on alternate days

ACTH-driven - pituitary adeoma, ectopic tumour

31
Q

How does Cushing syndrome present?

A
Growth failure
Short stature
Face and trunk obesity
Red cheeks
Hirsutism
Striae
HTN
Bruising
Muscle weakness and wasting
32
Q

Who gets diabetes insipidus and how does it present?

A

Failure to produce ADH –> polyuria and polydipsia

Genetic condition, treated with desmopressin for life

Vigorous suck with vomiting
Fever without cause
Constipation
Excessively wet nappies

33
Q

What is growth hormone deficiency?

A

Isolated defect or secondary to panhypopituitarism

Congenital mid-facial defects - craniopharyngioma
Trauma
Hypothalamic tumour
Meningitis

Bone age is decreased

34
Q

How is GH deficiency treated?

A

Biosynthetic GH given subcut daily

?IGF-1

35
Q

What causes gynaecomastia?

A

Occurs in half of males during puberty

Medicines
Cannabis or steroids
Tumours
Klinefelter syndrome

Leydig tumour - increased oestrogens
Viral orchitis- reduced testosterone

36
Q

What is thelarche?

A

Premature breast development - 6 months-2 years

Absence of axilalry and pubic hair

37
Q

What is pubarche?

A

Pubic hair before 8yo in females and 9yo in males
Without other signs of sexual development

Accentuation of normal maturation of androgen production by adrenal gland

More common in Asian and Afro-Carribean children

Rule out late-onset CAH and adrenal tumour

38
Q

What are the four phases of human growth?

A

Fetal - fastest period of growth (30% of eventual height)
Determined by size of mother, placental nutrition

Infantile - infancy to 18 months
Dependent on nutrition, good health and normal thyroid function
Accounts for 15% of height
Failure to thrive if inadequate

Childhood - contributes to 40% of height
Pituitary growth hormone produces insulin-like growth factor 1 at epiphyses
Needs adequate nutrition, good health, thyroid, vit D, steroids

Pubertal - sex hormones cause back to lengthen
15% of final height
Causes fusion of the epiphyseal growth plates and cessation of growth

39
Q

What is a normal menstruation?

A

21-45 days
3-7 days blood loss
6pads/day is heavy bleeding

40
Q

What investigations are done for FTT?

A
History
Urine M, C + S
Stool M, C + S
Stool for reducing substances
Height, weight and head circumference
41
Q

What investigations are done for hypoglycaemia?

A

Serum glucose and ketones
Insulin, c-peptide, GH and cortisol levels
FFA, TFT
Urine ketones, glucose, urinalysis
Screen for infection - FBC, blood culture

42
Q

How is hypoglycaemia treated?

A

IV dextrose 10%
2.5ml/kg in neonates
2ml/kg in children

43
Q

How is precocious puberty investigated?

A

Males

  • bilateral large testicles - central or peripheral tumour
  • unilateral large testicle - gonadal tumour

Females
- pelvic USS - ?PCOS

44
Q

How does diabetes insipidus present and what causes it?

A

Polyuria, polydipsia, weight loss

Intracranial tumours or injury -> decreased production of ADH