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Paeds: Gastro and Growth > Short stature > Flashcards

Short stature Flashcards

1
Q

What is the definition of short stature?

A

Height below the second centile (i.e 2 SDs below the mean)

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2
Q

What proportion of children have short stature, by definition?

A

1 in 50

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3
Q

What is the cause of the majority of short stature?

A

normal but with short parents

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4
Q

When should children with short stature be assessed for a cause?

A

children under 0.4th centile (4 in 1000 children)

and

child’s height falling across centiles on a height velocity chart

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5
Q

Why is height velocity useful to look at in the form of a graph?

A

sensitive indicator of growth failure

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6
Q

What is ideally needed to measure height velocity on a height velocity chart?

A

2 accurate measurements at least 6 months but preferably a year appart, allow calculation of height velocity in cm/year

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7
Q

How do you plot a child’s height velocity on a chart?

A

Plot two points, then heigh velocity plotting at midpoint in time on a height velocity chart

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8
Q

What is a disadvantage of height velocity calculations?

A

they are highly dependent on accuracy of height measurements, so tend tend to use outside specialist growth clinics

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9
Q

In addition to calculating height velocity, what are 2 further pieces of information needed to assess a child’s growth?

A
  1. compare height centile of child with weight centile
  2. estimate of their genetic expected height calculated from height of parents - mean of father’s and mother height with 7cm added for midparental target of boy, and 7cm substracted for a girl
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10
Q

What are 9 groups of causes of short stature?

A
  1. Familial
  2. Severe intrauterine growth restriction or prematurity
  3. Constitutional delay of growth and puberty
  4. Endocrine
  5. Nutrition/ long term illness
  6. Psychosocial - emotional deprivation, neglect
  7. Syndromes
  8. Extreme short stature
  9. Disproportion: skeletal dysplasia- legs >back, storage disorders- back>legs
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11
Q

What rae 4 endocrine causes of short stature?

A
  1. Hypothyroidism
  2. Growth hormone deficiency
  3. Steroid excess: iatrogenic, Cushing syndrome
  4. IGF-1 deficiency
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12
Q

What are 5 examples of long-term illness which can cause short stature?

A
  1. Coeliac
  2. Crohn’s disease
  3. Chronic kidney disease
  4. Cystic fibrosis
  5. Congenital heart disease
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13
Q

What are 4 examples of syndromes which can cause short stature?

A
  1. Turner
  2. Noonan
  3. Down
  4. Russel-Silver
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14
Q

What are 4 social problems caused by short stature?

A
  1. Teased/ bullied at school
  2. Poor self esteem
  3. Disadvantage in most competitive sport
  4. Assumed to be younger than younger than true age and treated inappropriately
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15
Q

How can you tell if the cause of short stature is familial?

A

child falls within centile target range allowing for midparental height

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16
Q

What do you need to make sure to rule out in cases of familial short stature?

A

make sure both child and parent do not have inherited growth disorder e.g. skeletal dysplasia

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17
Q

What are the 2 types of ‘disproportion’ causes of short stature and what disproportion exists?

A
  1. Skeletal dysplasia: legs>back
  2. Storage disorders: back>legs
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18
Q

When does constitutional delay in growth and puberty present?

A

teenage years due to delay in onset of puberty; growing in childhood usually within lower limits of normal

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19
Q

What are bone age and onset of secondary sexual development likely to be like in constitutional delay in growth and puberty?

A

Bone age likely somewhat delayed

Onset of secondary sexual development delayed

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20
Q

Is final height usually normal in constitutional delay in growth and puberty?

A

yes

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21
Q

What is the family history likely to be in a case of constitutional delay in growth and puberty?

A

usually a family history of delayed growth and puberty but normal height as adults

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22
Q

What proportion of children born small for gestational age who were extremely premature remain short?

A

about 10%

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23
Q

What treatment may be indicated in short stature due to small for gestational age and extreme prematurity, and when?

A

Growth hormone (GH) treatment, if insufficient catch-up growth by 4 years of age

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24
Q

What are the 3 chromosomal disorders/ syndromes which may present with short stature and minimal symptoms (rather than diagnosis at birth)?

A
  1. Noonan’s
  2. Turner’s
  3. Russell-Silver
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25
Q

What syndrome is particularly difficult to diagnose clinically and should be considered in all short females?

A

Turner syndrome (45, X0)

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26
Q

What feature is common in short stature caused by nutritional/long-term illness?

A

Weight usually on same or lower centile than height - short and underweight

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27
Q

What are 4 things that can cause inadequate nutrition?

A
  1. insufficient food
  2. restricted diets
  3. poor appetite due to long-term illness
  4. increased nutritional requirement from raised metabolic rate
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28
Q

When does coeliac disease usually present in children?

A

within first 2 years of life (but also can present late with faltering growth)

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29
Q

Why can cystic fibrosis cause short stature?

A

malabsorption, recurrent infections, increased work of breathing, reduced appetite

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30
Q

Why can congenital heart disease cause short stature?

A

increased work of breathing

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31
Q

What can be used to treat short stature due to psychosocial deprivation?

A

affected children show catch-up growth if placed in nuturing environment

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32
Q

What is a child’s weight likely to be if they have short stature caused by an endocrine cause (hypothyroidism, GH deficiency, IGF-1 deficiency, steroid excess)?

A

Likely to be relatively overweight i.e. weight on higher centile than their height

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33
Q

How can overweight children with an endocrine cause of short stature be differentiated from children with nutritional obesity?

A

if nutritional obesity, tend to be relatively tall compared with midparental height range rather than short and overweight

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34
Q

What is usually the cause of hypothyroidism in children?

A

autoimmune thyroiditis

35
Q

When is childhood hypothyroidism likely to lead to short stature?

A

If goes undiagnosed for many years

36
Q

What is final height likely to be after treatment for childhood hypothyroidism?

A

catch-up growth occurs rapidly but often with a rapid entry into puberty that can limit final height

37
Q

How is congenital hypothyroidism diagnosed and how does this affect height?

A

soon after birth by neonatal biochemical screening, with treatment does not result in any abnormality of growth

38
Q

What are 2 scenarios in which growth hormone deficiency can occur?

A
  1. Isolated deficiency
  2. Secondary to wider pituitary dysfunction
39
Q

What are 4 things that could cause a wide pituitary dysfunction, including growth hormone deficiency?

A
  1. Congenital midfacial or midline defects
  2. Craniopharyngioma (tumour affecting pituitary region)
  3. Hypothalamic tumour
  4. Trauma e.g. head injury, meningitis, cranial irradition
40
Q

When does craniopharyngioma, a possible cause of growth hormone deficiency, usually present and how?

A

Late childhood

Bitemporal hemianopia (optic chiasm), optic atrophy, papilloedema on fundoscopy

41
Q

What is a condition that can cause apparent isolated growth hormone deficiency?

A

Laron syndrome - defective GH receptors resulting in GH insensitivity

42
Q

What will blood products show in growth hormone insensitivity caused by Laron syndrome?

A

High GH levels but low levels of downstream active product of GH known as IGF-1 produced at growth plate and in the liver

43
Q

In addition to growth hormone deficiency what other abnormality in the pathway can create the same effect, causing short stature?

A

rare abnormalities in gene producing IGF-1 (downstream active product of GH)

44
Q

What is the most common cause of corticosteroid excess in children causing short stature?

A

Iatrogenic - corticosteroid therapy is potent growth suppressor

45
Q

How can the effect of iatrogenic steroids on short stature be reduced? How effective is this?

A

alternate day therapy; some growth suppression may be seen even with relatively low doses of inhaled or topical steroids in susceptible individuals

46
Q

What 2 types of pathology may cause noniatrogenic corticosteroid excess in children?

A

Pituitary and adrenal

47
Q

What abnormalities of growth are typically seen in corticosteroid excess?

A

growth failure may be very severe and is accompanied by excess weight gain

48
Q

Can normal height be restored after corticosteroid excess-induced short stature?

A

normalisation occurs on withdrawal of corticosteroid therapy or treatment of underlying steroid excess

Cushing syndrome during puberty can result in permanent loss of height

49
Q

What are 3 causes of extreme short stature?

A
  1. Idiopathic - no explanation
    • but likely due to polymorphisms in SHOX gene
  2. Abnormalities in short stature homeobox (SHOX) gene on X chromosome - severe short stature with skeletal abnormalities if present on both gene copies
  3. Absence of one SHOX gene in Turner syndrome - cause of short stature (additional copies in Klinefelter produce taller stature)
50
Q

What are 3 things that must be done to confirm a diagnosis of disproportionate short stature?

A
  1. Sitting height measurement - base of spine to top of head
  2. Subischial leg length - subtraction of sitting height from total height
  3. Limited radiographic skeletal survery to identify the skeletal abnormality
51
Q

What exists to help assess normality of body proportions e.g. in suspected disproportionate short stature?

A

charts

52
Q

What might cause abnormal body proportions in short stature? Give examples

A

disorders of formation of bone: skeletal dysplasias, e.g. achondroplasia and other short-limbed dysplasias

53
Q

What treatment is available in disproportionate short stature in which legs are extremely short?

A

Treatment by surgical leg lengthening

54
Q

What are 2 causes of short back in disproportionate short stature?

A
  1. Severe scoliosis
  2. Storage disorders e.g. mucopolysaccharidoses
55
Q

What 2 things usually allow the cause of short stature to be identified without any further investigations?

A
  1. Plotting present and previous heights and weight on appropriate growth charts
  2. Clinical features assessment
56
Q

Where should you be able to access previous height and weight measurements of the child?

A

parent-held personal child health record

57
Q

What investigation may sometimes be helpful in identifying the cause of hsort stature e.g. endocrine disorders?

A

Bone age: x-ray of left hand and wrist for bone age done, as likely markedly delayed in hypothyroidism and GH deficiency

58
Q

What can bone age be used to estimate?

A

adult height potential

59
Q

In total what are 13 investigations that you might perform for short stature in certain situations?

A
  1. Bone age from left hand and wrist x-ray
  2. Full blood count
  3. Creatinine and electrolytes
  4. Calcium, phosphate, alkaline phosphatase
  5. Thyroid-stimulating hormone
  6. Karyotype
  7. Anti-endomysial (EMA) and anti-tissue transglutaminase (anti-TTGa) immunoglobuline A antibodies
  8. CRP (acute phase reactant) and ESR
  9. GH provocation tests (using insulin, glucagon, clonidine, or arginine in specialist centres)
  10. IGF-1
  11. 0900h cortisol and dexamethasone suppression test
  12. MRI scans if neurological symptoms/signs
  13. Limital skeletal survey
60
Q

What are 2 causes of short stature that could have significant findings in an X-ray of the left hand and wrist for bone age?

A
  1. some delay in bone age in constitutional delay of growth and puberty
  2. marked delay for hypothyroidism/GH deficiency
61
Q

What are 2 situations when FBC could be useful to investigate short stature?

A

anaemia in coeliac or Crohn’s disease

62
Q

Why can a measurement of creatinine and electrolytes be useful for short stature?

A

Creatinine raised in chronic kidney disease (chronic disease)

63
Q

What are 2 reasons to measure serum calcium, phosphae, and alkaline phosphatase in short stature?

A

Renal and bone disorders

64
Q

Why is thyroid-stimulating hormone sometimes measured in short stature?

A

raised in primary hypothyroidism

65
Q

Why can karyotyping be a useful investigation for short stature?

A

Turner syndrome shows 45, XO, other chromosomal disorders

66
Q

Why would you measure Anti-endomysial (EMA) and anti-tissue transglutaminase (anti-TTGa) immunoglobulin A antibodies in short stature?

A

usually present in coeliac disease

67
Q

Why can it be useful to measure CRP and ESR in short stature?

A

raised in Crohn’s

68
Q

What are 4 things that can be used for growth hormone provocation tests in suspected growth hormone deficiency?

A
  1. insulin
  2. glucagon
  3. clonidine
  4. arginine
69
Q

Why would you measure IGF-1 in short stature?

A

Disorders of the growth hormone axis, including IGF-1 deficiency

70
Q

What are you investigating for as a cause of short stature with the 0900 h cortisol and dexamethasone suppression test?

A

Cushing syndrome

71
Q

What cause of short stature are you looking for when performing an MRI scan, if there is short stature and neurological symptoms/signs?

A

craniopharyngioma or intracranial tumour

72
Q

What 2 things can a limited skeletal survey help diagnose in short stature?

A
  1. skeletal dysplasia
  2. scoliosis
73
Q

What is the management of GH deficiency as a cause of short stature?

A

biosynthetic GH by subcut injection, usually daily

74
Q

Where is treatment of GH deficiency undertaken?

A

specialist centres

75
Q

In which growth hormone deficient patients is the best repsonse to biosytnhetic GH seen?

A

those with the most severe hormone deficiency

76
Q

What are 6 indications for treating short stature with growth hormone?

A
  1. Growth hormone deficiency
  2. Turner syndrome
  3. Prader-Willi syndrome
  4. Chronic kidney disease
  5. SHOX
  6. Itrauterine growth restriction or small for gestational age with failure of catch-up growth
77
Q

What is Prader-Willi syndrome?

A

Imprinting disorder resulting in early hypotonia and feeding difficulties followed by short stature, obesity and learning difficulties

78
Q

How does biosynthetic GH help to treat Prader-Willi syndrome?

A

improves muscular strength and body composition as well as modestly improving final height

79
Q

What are 2 situations when recombinant IGF-1 can be used to treat short stature?

A
  1. GH resistance e.g. Laron syndrome
  2. IGF-1 deficiency who would have previously not responded to GH treatment
80
Q

What are 2 issues with the use of GH and recombinant IGF-1 as treatments for short stature?

A

very expensive, confined to a few specialised centres

81
Q

What are 8 things to ask about in the history in short stature?

A
  1. Birth length, weight, head circumference and gestational age
  2. Pregnancy history: infection, intrauterine growth restriction, drug use, alcohol/smoking
  3. Feeding history
  4. Developmental milestones
  5. Family history of constitutional delay of growth and puberty or other diseases
  6. Consanguinity pertaining to inherited conditions
  7. Features of chronic illnes, endocrine causes e.g. hypothyroidism, pituitary tumour, Cushing syndrome or psychosocial deprivation?
  8. Medications e.g. corticosteroids
82
Q

What are 5 things to look for in examination in short stature?

A
  1. Dysmorphic features - chromosome/syndrome present? (But in Turner syndrome other stigmata may be absent)
  2. Chronic illness e.g. Crohn’s, CF, coeliac disease?
  3. Evidence of endocrine causes?
  4. Disproportionate short stature from skeletal dysplasia
  5. Pubertal stage?
83
Q

What are 2 ways that a child may be treated for short stature who has Turner syndrome?

A

Growth hormone injections and hormone therapy at puberty e.g. ethinyl oestradiol (oestrogens) for pubertal induction around 14 years of age

Paeds: Gastro and Growth (14 decks)

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