Growth and Endocrine Flashcards

1
Q

What factor affect height

A
Genetics = most important 
Age 
Sex
Race
SGA 
Nutrition
Parental height
Bone age
Socio-economic
Psychological 
Chronic disease 
Specific growth disorder - hypothyroid / GH deficiency 
Puberty 
Drugs - steroid 
Syndrome
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2
Q

What causes growth in infant, child puberty

A

Infant = nutrition + insulin
Quick growth

Child = GH
If defiant won’t grow

Puberty
GH
Sex hormones
Rapid growth spurt

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3
Q

How do you assess growth development

A
Height / length
Weight
Growth chart
Mid Parental Height
Growth velocity 
Bone Age
Pubertal Assessment
Head circumference
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4
Q

When do you refer

A
Extreme shortchanged or tall
Below target heigh
Abnormal velocity of height
Hx chronic disease
Obvious dysmorphia 
Early / late puberty
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5
Q

What are causes of short stature (2 SD below for age and sex)

A
Familial
Constituional delay 
SGA / IUGR - give GH 
Undernutrition 
Chronic disease - IBD / coeliac
Iatrogenic - steroid
Psychological
Endocrine 
Syndromes
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6
Q

What endocrine cause short stature

A

GH deficiency
Hypothyroid
Glucocorticoid excess

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7
Q

What syndromes cause short stature

A
Turner
Down's 
Prader-Willi 
Noonan 
Achondroplasia
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8
Q

How do you investigate short stature

A
FBC + ferritin 
U+E, LFT, Ca, CRP 
Coeliac serology and IgA 
IGF-1, TFT, prolactin, cortisol, sex hormones 
Karyotype for syndrome 
MRI pituitary
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9
Q

What do you do if IGF-1 is low

A

GH stimulation test

If negative = GH deficiency

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10
Q

What is achondroplasia

A
AD 
Trident hand
Lumbar lordosis
Midface hypoplasia
Macrocephaly
Short fingers
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11
Q

How do you treat SGA

A

GH

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12
Q

When do you review bt GP

A

Growth <2nd gentile

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13
Q

WHen do you review by paediatrics routinely

A

If <0.4

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14
Q

How do you calculate weight

A

2 (Age + 4)

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15
Q

How much taller do boys grow than girls

A

12.5cm

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16
Q

How do you calculate mid parental height / predicted height

A
Boy = (Mum + 12.5/2) + Dad
Girl = (Dad - 12.5/2) + mum
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17
Q

What causes failure to thrive

A
Inadequate nutritional intake 
Decreased intake / difficulty feeding 
Increased demand
Excess loss / malabsorption 
Inability to process
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18
Q

What is your weight, length and OFC at birth

A

3.5kg
50cm
35cm OFC

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19
Q

At 4 months

A

6.6kg

60cm

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20
Q

12 months

A

10kg
75cm
45cm OFC

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21
Q

3 years

A

15kg

95cm

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22
Q

Causes of FTT

A

Energy < demand

Inadequate intake

  • Maternal if breast - poor lactation
  • Incorrect feed
  • Iron deficiency anaemia
  • Neglect

Poor feeding

  • Premature
  • Neuromuscular causing poor suck
  • Cleft lip or palate

Excess loss / malabsorption

  • Pyloric stenosis
  • Reflux
  • Gastroenteritis
  • Coeliac

Inability to Process

  • Inborn error of metabolism
  • Type 1 DM

Increased requirement

  • Chronic infection - HIV
  • Chronic disease - congenital heart or lung
  • Hyperthyroid
  • Malignancy
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23
Q

What causes malabsorption

A
Allergy
Coeliac
CMPI 
Short bowel
IBD
CF
Chronic diarrhoea 
Gastroenteritis
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24
Q

How does FTT present

A

Growing too slow
Poor weight gain
Delayed mile stone
Faltering of centiles on growth chart

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25
Q

What do you look for in history and exam

A
Pregnancy 
Birth
Diet
FH
Social history 
Dysmorphism
Development
Posture / neuromuscular
Plot height, weight and BMI on growth chart
Calculate mid parental - if two below suggests issue
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26
Q

How do you investigate

A
FOR ALL 
Trial hospital feed
Observation of feeding 
Parent / child interaction 
Urine dip for UTI
Coeliac screen 
Further investigations depending on suspected cause
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27
Q

If good intake and weight gain

A

Non-organic

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28
Q

If good intake and no weight gain

A

Organic

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29
Q

If poor intake

A

Organic or feeding disorder

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30
Q

What are non organic reversible causes

A
Poverty
Poor support
Neglect
Drugs or depression in family
Poor feeding
Emotional deprivation
Anorexia / bulimia
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31
Q

Average age of puberty in boys

A

11.5
Early = <9
Late = >14

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32
Q

Sequence in boys

A

Testicular growth
Penile growth
Late growth age 14
Facial hair and voice break at the end

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33
Q

Average age of puberty in girls

A

11
Early <8
Late >13

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34
Q

Sequence in girls

A

Breast bud
Pubic growth
Early growth
Menarche at end

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35
Q

What causes delayed puberty

A

Hypogonadotrophic hypogonadism (low FSH / LH leading to low sex hormones)

  • Damage to hypothalamus / AP - surgery / RT / tumour
  • GH deficiency
  • Hypothyroid
  • Hyperprolactin
  • Serious chronic disease
  • Excessive exercise or diet
  • Constitutional delay
  • Kallman - anosmia

Hypergonadotrophic hypogonadism (high FSH / LH trying to stimulate)

  • Damage to gonads - RT / cancer / torsion / mumps / autoimmune
  • Cryptochidism
  • Klienfelter - XXY
  • Turner - XO
  • Androgen insensitivity
Other 
Prader- WIlli 
Noonan
PCOS
Imperforate hymen
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36
Q

What causes impaired HPG

A

Kallman

Craniopharyngioma

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37
Q

What causes constitutional delay

A
Often FH
Due to bone age delay
Short stature but will reach normal adult height 
Puberty is delayed 
Affects boys
Exclude organic and reassure
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38
Q

What causes central precocious puberty (early puberty)

A

Premature activation of HPG
Gonadotrophin dependent
FSH and LH raised
All areas of puberty early

39
Q

Do you worry in female

A

No
Idiopathic
Measure FSH level
Should follow normal sequences

40
Q

What do you think if boys and what do you do / what does it cause

A

Brain tumour - Craniopharyngioma / NF
Tubero sclerosis
Hypothyriod

Do MRI

Causes bilateral enlarged testicles

41
Q

What is thelarche and adrenarche

A

First breath

First pubic hair

42
Q

What is pseudo puberty

A
Gonadotrophin independent
FSH and LH low
Excess sex hormones produced from sex organs 
Develop sexual characteristics <8 or <9 
Advanced bone age
43
Q

If bilateral small testis what does it suggest

A

Adrenal tumour
Adrenal hyperplasia
Steroid

44
Q

If unilateral enlarged

A

Gonadal tumour

Lydia as produce androgen

45
Q

What staging is used for puberty

A
Tanner staging
Axillary hair
Pubic hair
Breast
Genitals
Testicular volume
46
Q

What measures testicular volume

A

Prader Orichidometer

47
Q

What is important to notice

A

Breast bud - B2

Enlargement testicles - 3-4ml

48
Q

What tests if delayed puberty

A

History - health, development, FH, diet
Examination - height, weight, puberty
Initial
- FBC, ferritin for anaemia, U+E for CKD and coeliac screen
Hormones
- FSH = 1st line (will differentiate between central and peripheral)
Pelvic USS to assess ovary / confirm normal anatomy

Other

  • TFT, IGF-1, serum prolactin
  • Genetic testing / Karyotype
  • X-ray for bone age in constitutional
  • MRI
49
Q

What must you exclude if ambiguous genitalia

A

Congenital adrenal hyperplasia

- 21 hydroxyls = most common

50
Q

What do you give for central puberty

A

GnRH agonist

51
Q

What should TV be at peak height velocity

A

10ml

52
Q

What is normal

A

15-25ml

53
Q

What are normal changes in puberty

A

Gynaecomastia
Asymmetrical breast
Enlargement of thyroid

54
Q

If PV bleeding with no sexual characteristics

A

INVESTIGATE
Trauma
Candida
Vulvovagnitis

55
Q

When is it rare

A

Pre-pubertal

56
Q

What is Klienfelter

A

47XXY
Primary hypertrophic hypogonadism
High LH / FSH
Low testosterone

57
Q

How does it present

A
Appear normal until puberty 
Tall height
Weak muscles 
Lack 2 sexual characteristics
Small testicles 
Reduced libido 

Infertile
Gynaecomastia

58
Q

How do you Dx

A

Chromosome analysis

59
Q

How do you treat

A

Testosterone injections
Advanced IVF
Breast reduction
MDT = SALT, OT, physio

60
Q

What can cause it

A

Testosterone secreting tumour

61
Q

What is Kallman

A

XR
Hypogonadotrophic hypogonadism
LH low
Low testosterone

62
Q

What is associated

A

Cleft lip

Visual / hearing

63
Q

What are the symptoms

A

Cryptorchidism
Anosmia
Normal height

64
Q

What is androgen insensitivity

A

XR
Genotype shows 46XY
Female phenotype

65
Q

How does it present

A

Breast development
Primary amenorrhoea
Undescended testis
Resistant to testosterone

66
Q

How do you Dx

A

Chromosomal analysis
LH high
Testosterone normal

67
Q

How do you Rx

A

Counselling
Oestrogen therapy
Remove undescended testis

68
Q

What causes obesity

A
Intake > activity = most common
Insulin
Steroid
Sodium valproate
Prader Willi
Trisomy 21
Hypothyroid
GH deficiency 
Cushing
Increased androgen 
Insulin resistance
Hypothalamic damage = no control
69
Q

What is abnormal

A

Obese and short

Do BMI adjusted for age and gender

70
Q

What can obesity cause

A
SUFE / MSK 
Poor self esteem
Sleep apnoea
Snoring
Benign intracranial hypertension
Type 2 DM
IHD
Malignancy 
PCOS
Pancreatitis
Gall stone
Liver disease
VTE
71
Q

Ddx snoring

A
Obesity
Sleep apnoea
Nasal polyp
Deviated nasal septum 
Tonsiliits
Down's as reduced muscle tongue and large tongue
Hypothyroid
72
Q

How do you investigate

A
Weight, height, BMI
Food diary
Drug Hx
Genotype
TFT / Cortisol / IGF-1
73
Q

What causes hypothyroid

A

Autoimmune thyroiditis ‘Hashimoto’ = most common
RT e.g. after leukaemia
Iodine deficiency = most common developing world

Congenital
Atheytosis - absence
Hypoplasitc - underdevelopment
Ectopic 
Dyshormogenic - doesn't produce
74
Q

What are the symptoms

A

Congenital

  • Prolonged jaundice
  • Hypothermia
  • Hypotonia
  • Poor feed
  • Constipation
  • Increased sleeping
  • Slow growth / FTT

Acquired

  • Poor growth
  • Weight gain
  • Constipation
  • Coarse voice
  • Dry skin
  • Macroglossia
  • Puffy face
  • Puberty delay
75
Q

How do you Dx

A

Guthrie heal prick for congenital

TSH, thyroid USS, and thyroid Ab

76
Q

How do you Rx and what are complications if don’t

A

Within 2 weeks of screen
Levothyroxine
Cretinism if don’t - impaired mental / stuned growth due to permissive on GH and retain infantile features

77
Q

What are features of adrenal insufficiency in babies

A
Lethargy
Vomiting
Poor feed
Hypoglycaemia
Jaundice
FTT
78
Q

What are features in children

A
Poor weight gain or loss
N+V
Anorexia
Abdo pain
Muscle weakness and crmaps
Developmental delay
Bronze pigmentation
79
Q

How do you investigate suspected

A

U+E - hyponatraemia and hyperkalaemia
Blood glucose - low
Specific tests for adrenal causes

80
Q

How are kids managed

A
Growth and development
BP
U+E 
Glucose
Bone profile
VIt D
81
Q

How is congenital adrenal hyperplasia inherited

A

AR

82
Q

What enzyme is deficient

A

21-hydroxylase

83
Q

What does it lead too

A

Underproduction of cortisol and aldosterone as require enzyme to produce from progesteron
Overproduction of androgens - testosterone as excess progesterone converted as don’t require

84
Q

How do females with severe congenital adrenal hyperplasia present

A

Ambigious genitalia
Enlarged clitoris
Virilisation
SKIN HYPERPIGMENTATION due to excess ACTH
Salt wasting crisis as cortisol / aldosterone not formed
Hyponatraema, hyperkalaemia and hypoglycaemia
- Leads to poor feed, vomtiing, dehydration and arrhythmia

85
Q

How do mild cases present in female

A
Tall for age
Absent period
Facial hair
Deep voice
Early period
86
Q

How do mild cases present in male

A
Tall for age
Deep voice
Large penis
Bilateral small testicles
Early puberty
87
Q

What causes GH deficiency

A

Genetic

Acquired - infection, trauma, surgery

88
Q

What does it occur with

A

Can be isolated

Or occur with other pituitary hormone deficiency

89
Q

How does GH deficiency present in neonates

A

Micropenis
Hypoglycaemia
Severe jaundice

90
Q

How do older children present

A

Poor growth
Short stature
Delayed puberty

91
Q

How do you investigate

A

GH stimulation test
MRI brain
Genetic test - Turner / Prader-Willi
X-ray for bone age to predict final height

92
Q

What is GH stimulation

A

Give hormones which usually stimulate
- Glucagon
- Insulin
Lack of response

93
Q

How do you Rx

A

Daily SC GH

Close monitoring of height and development