Transcript Paediatrics Endocrine problems - key facts

Paediatrics
Endocrine problems - key
facts
Wojciech Cymes
Plan
 GROWTH CHARTS
 short stature
 puberty problems
 hypothyroidism
 CAH
 diabetes
Growth Charts
 UK-WHO growth charts, 0-18 years
 children of the same age and maturity who have shown optimum growth
 based on WHO Child Growth Standards
 Hospital chart
 THE Red Book
 Weight and Height changes in time
 head circumference up to 1yo
 NB correction for prematurity up to 2 yo
 0.4, 2, 9, 25, 50, 75, 91, 98, 99.6 centiles
Short Stature
 Causes
 constitutional delay
 pubertal delay
 GH deficiency
 hypopituitarism
 hypothyroidism
 Cushing's syndrome/ disease
 Turner's syndrome
 skeletal disorder
 Emotional problems
 chronic illness
 malabsorption
 congenital heart disease
 CF
 DM
 immunodeficiency
Short Stature
 Height below 0.4th centile
 Need ≥2 measurements 6 months apart
 growth velocity important
 height vs. mid-parental height (F+M)/2
 trace the centile
 +/- 10cm boy, +/- 8cm girls
 History
 childhood illness
 FHx of skeletal disorders
 Examination
 growth charts!!!
 dysmorphic features
 weight
 stage of puberty
+ 7cm (boys)
-7 cm (girls)
Short Stature
 Investigations
 bone age
 karyotype
 TFTs
 GH and IGF-1
 coeliac screen
 inflammatory markers
 Management
 GH replacement
 IGF-1 replacement if GH resistance
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Puberty
 defined sequence of changes leading to full sexual development
 Female:
 breast development (8.5-12.5 years)
 pubic hair growth
 Rapid height spurt
 menarche
 Male:
 Testicular enlargement
 pubic hair growth
 height spurt
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Delayed puberty
 Boys > girls
 Absence of pubertal development at 14 in girls and 15 in boys
 Causes
 constitutional delay most common
 hypogonadotropic hypogonadism
 CF
 anorexia
 hypothyroidism
 hypopituitarism
 hypergonadotroipc hypogonadism
 Turner's or Kleinefelter's syndromes
 steroid enzyme deficiencies
 gonadal damage
Delayed puberty
 Assessment
 pubertal staging
 growth staging
 chronic systemic disorders
 karyotype in girls
 Management
 treat the cause if possible
 reassure!
 accelerate growth and puberty if necessary
 oxandrolone and later testosterone for boys
 oestradiol for girls
 psychologist's help
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Precocious puberty
 Girls > boys
 in girls often premature onset of normal puberty
 Gonadotropin dependent
 idiopathic
 CNS abnormalities
 hypothyroidism
 Gonadotropin independent
 CAH
 granulosa cell tumours / Leydig cell tumours
 exogenous sex steroids
Precocious puberty
 Management
 treat underlying cause if possible
 reduce rate of skeletal maturation if necessary
 early growth spurt -> early growth cessation -> lower adult height
 GnRH analogues for gonadtropin-dependent
 androgen / oestrogen inhibitors or antagonists for gonadotropin-independent
Turner's syndrome
 45 X0
 most cases lead to early miscarriage
 risk not affected by maternal age
 Clinical features:
 short stature (NB may be the only one)
 webbed neck
 cubitus valgus
 widely spaced nipples
 delayed puberty and ovarian dysgenesis
 normal intelectual function
 Management
 GH replacement
 oestrogen replacement at puberty time
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Congenital adrenal hyperplasia
 AR 21-hydroxylase deficiency
 Presentation
 virilisation of female infants
 enlarged penis in male infants (rarely identified)
 salt-losing crisis at 1-3 weeks of age
 vomiting, weight loss, collapse
 tall and muscular built
 precocious pubarche
 Management
 glucocorticoid (to allow normal growth) ± mineralocorticoid replacement
 monitor growth, skeletal maturity and androgens - avoid over-replacement
 additional hormone replacement at times of stress
 ±corrective surgery in females
Hypothyroidism
 Congenital
 Acquired
 1:4000
 short stature
 untreated leads to cretinism
 slipped upper femoral epiphysis
 causes
 school work deterioration
 thyroid development anomalies
 iodine deficiencies
 TSH deficiency
 usually picked up on Guthrie test before
symptomatic
 lifelong thyroxine replacement
 other features as in adults
Type 1 diabetes mellitus
 Autoimmune condition
 Classic triad:
 polydipsia
 polyuria
 weight loss
 Treat by replacing insulin
 MDT approach
 sick day rules important to avoid DKA
 education
 monitoring and injection technique
 basic pathology
 diet
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Diabetic ketoacidosis
 Relative deficiency of insulin
 Can be provoked by eg infection
 importance of sick day rules
 Triad of:
 acidosis
 ketonaemia
 hyperglycaemia
 Emergency treatment
 rehydrate
 fixed infusion rate insulin until ketones normalise
 replace glucose and potassium as needed
 SENIOR HELP NEEDED
 identify reasons, educate!
Thank you!
 Remember the GROWTH CHART!
 This sessions won't grow any better without your feedback!