paediatric growth and endocrine Flashcards

1
Q

what is normal growth and why is a precise definition difficult

A
  • wide range within healthy population
  • different ethnic subgroups
  • inequality in basic health and nutrition

normal may relate to individuals or populations

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2
Q

bone age

A
  • radiographs must be high quality
  • evaluation by skilled practitioner
  • pathological conditions can distort bones, severe osteopenia confuses interpretatin
  • analyse 20 bones - long and short
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3
Q

assessment tools for growth

A
  • height/length/weight - serial measurements are important, measure at each appointment
  • growth charts and plotting
  • MPII and target centiles
  • growth velocity
  • bone age
  • pubertal assessment
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4
Q

further things to consider when assessing slowed growth

A
  • birth weight and gestation
  • PMH
  • FHx/SHx/schooling
  • systematic enquiry
  • dysmorphic features
  • systemic examination incl pubertal assessment
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5
Q

growth disorders: indications for referral

A
  • extreme short/tall stature - off centiles
  • height below target height
  • abnormal height velocity - crossing centiles
  • hx chronic disease
  • obvious dysmorphic syndrome
  • early/late puberty
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6
Q

common causes of short stature

A

familial

constitutional - delay of growth and puberty, variation of normal, delayed bone age can indicate delayed puberty

SGA/IUGR

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7
Q

management of constitutional delay of growth and puberty

A

often watch and wait

can bring puberty forward w/ short course of testosterone

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8
Q

investigations for short stature

A
  • FBC, ferritin - general health, coeliac, crohn’s, JCA
  • U+E, LFT, Ca, CRP - general health, renal and liver disease, disorders of Ca metabolism
  • coeliac serology and IgA - coeliac
  • IGF-1, TFT, prolactin, cortisol, (gonadotrophin and sex hormones) - hormonal disorders
  • karyotype/microarray - turner’s syndrome, chromosomal abnormalities
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9
Q

why can we not measure growth hormone

A

released in a pulsatile manner - one off sample isn’t reflective

IGF-1 is a more stable and indirect marker of GH production

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10
Q

what can cause growth hormone deficiency

A

pituitary GH deficiency - ectopic posterior pituitary and small anterior pituitary

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11
Q

how is Tanner staging done

A
  • assessment by clinical examination
  • undertaken only w/ parental and child consent and adequate privacy
  • requires considerable expertise
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12
Q

what is Tanner staging used for

A

staging of puberty

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13
Q

Tanner stages

A

B - 1-5 breast development

G - 1-5 genital development

PH - 1-5 pubic hair

AH - 1-3 axillary hair

T - 2-2ml testicular volume

SO e.g. statement such as B3 PH3 or G2 PH2 6/6

  • stage 1 = prepubertal
  • 2 = beginning
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14
Q

hormones in puberty

A

hypothalamus → GnRh → pituitary gland → LH, FSH → gonads

testis → testosterone

ovaries → oestrogen

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15
Q

relationship between growth and other changes in puberty

A
  • puberty starts earlier in girls (~10y/o) - breast budding and growth spurt
  • menarche occurs ~1.5-2yrs after breast budding
  • boys start puberty ~11-12- penile growth, growth spurt occurs ~ ½ way through puberty and is more marked
  • facial hair occurs towards the end of puberty
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16
Q

ages for early and delayed puberty in boys

A

<9 (rare)

>14 (common, esp CDGP)

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17
Q

early and delayed puberty in girls

A

<8

>13 (rare)

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18
Q

constitutional delay of growth and puberty

A

boys mainly

FHx in dad/brothers

bone age delay

need to exclude organic disease

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19
Q

what tanner stage is breast budding

20
Q

what tanner stage is testicular enlargement

21
Q

pathological causes of short stature

A
  • undernutrition
  • chronic illness - JCA, IBD, coeliac
  • iatrogenic e.g. steroids
  • psychological and social
  • hormonal - GHD, hypothyroidism, glucocorticoid XS
  • syndromes - Tuner, P-W, Noonan, PHPT
  • skeletal dysplasias
22
Q

features of Tuner’s syndrome

A
  • short stature
  • ovarian dysgenesis
  • associated disorders: cardiac, renal, thyroid, ENT
  • psychosocial, educational difficulties
  • physical stigmata
23
Q

treatment of short stature in Turner syndrome

24
Q

features of Prader-Willi syndrome

A
  • infantile hypotonia, feeding problems
  • hyperphagia, childhood obesity
  • short stature
  • developmental delay
  • hypogonadism
  • deletion of 15q11-q13 chromosomal region
25
treatment of short stature in P-W syndrome
GH
26
features of Noonan syndrome
* facial features - low set ears, long philturm, spaced eyes * short stature * congenital heart disease - pulmonary valve stenosis
27
treatment of short stature in Noonan syndrome
GH
28
features of achondroplasia
* short limbed dwarfism * long bones don't grow properly
29
management of achondroplasia
* MDT approach to their growh * OT - living modifications * PT - management of orthopaedic problems
30
causes of delayed puberty
* **chronic disease** - Crohn's, asthma; **constitutional** * **1y gonadal disorders** - gonadal dysgenesis (turner's, kleinefelter's, DSD), testicular irradiation * **impaired HPG axis** - septo-optic dysplasia, craniopharyngioma, Kallman's syndrome
31
early sexual development
* breast development (hypothalamic activation) - infantile thelarche, thelarche variant (premature thelarche), **central precocious puberty - requires treatment** * 2y sexual characteristics (sex steroid hormone secretion) - exaggerated adrenarche, precocious pseudopuberty (i.e. congenital adrenal hyperplasia) * PV bleeding - premature menarche
32
what is central precocious puberty
* true pubertal development * breast development in girls, testicular enlargement in boys * growth spurt * advanced bone age need to exclude pituitary lesion → MRI
33
what is precocious pseudopuberty
* 2y sexual characteristics * gonadotrophin independent (low/prepubertal levels of LH and FSH) * most common early adrenarche need to exclude congenital adrenal hyperplasia
34
how common is obesity in children
* 2-25y/o - nearly ⅓ overweight/obese * £4.2bln p/a direct cost to NHS * primary school age - children in poorest decile are 2x as likely to be obese compared to those in the most affluent decile
35
assessment of overweight/obese children
* **weight** * **BMI** - need to take into account the child's age * **height** * waist circumference * skin folds * hx and exam - diet, exercise * complications
36
when is obesity abnormal
obese + short → investigate and determine underlying cause
37
hx for obesity
* **diet (what, where and when), physical activity** * **FHx** * symptoms suggestive of syndrome, hypothalamic pituitary pathology, endocrinopathy, DM
38
complications of obesity
* metabolic syndrome * fatty liver disease, gallstones, nutritional deficiencies, pancreatitis, GORD * reproductive dysfunction, stress incontinence * thromboembolic disease, LVH, atherosclerotic CV disease, R heart failure * central hypoventilation, obstruction sleep apnoea * orthopaedic problems (SUFE, tibia vara), injuries * psychological
39
causes of obesity
SIMPLE OBESITY drugs syndromes → learning difficulties endocrine disorders → growth failure hypothalamic damage → loss of appetite control genetic → starts \<5y/o
40
treatment of simple obesity
reverse balance of increased intake and reduced activity → static input and increase activity psychological input and potentially medication (generally undeffective)
41
why is an early diagnosis of diabetes important
* very common - scotland 5th highest incidence in world, 300 \<15y/o diagnosed T1DM p/a * ¼ are diagnosed in DKA, ⅓ in DKA \<5y/o * UK: 10 children die and 10 suffer w/ permanent neuro disability
42
why is delayed diagnosis of DM a problem
* can present critically unwell with new onset DM and can lead to death * sometimes diagnosis isn't even contemplated even if DM is considered, inappropriate testing performed, delayed referral * DKA preventable if DM diagnosed early * 33% of children in DKA have had at least 1 medical related visit prior to diagnosis
43
symptoms of T1DM
4 T's: * thirsty * tired * thinner * using toilet more * return to bedwetting/day wetting in previously dry child is a red flag for DM in children \<5y/o also consider; * heavier than usual nappies * blurred vision * candidiasis (oral, vulval) * constipation * recurring skin infections * irritability, behaviour change
44
DKA symptoms
* N+V * abdo pain * sweet smelling ketotic breath * drowsy * rapid, deep sighing respiration * coma
45
testing diabetes - what do you do
TEST IMMEDIATELY * finger pick capillary BG * \>11mmol/l - diabetes * \<11mmol/l - other cause
46
testing for diabetes - what not to do
* requires returned urine specimen * arrange fasting BG test * arrange OGTT * wait for lab results - urine or blood
47
same day review for diabetes
* call local specialist paeds diabetic team for **same day review** * DKA can occur very quickly in children * if in any doubt about T1DM diagnosis, call for advice ## Footnote **DON'T DELAY THE DIAGNOSIS**