Paediatrics Endocrine problems

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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

 Cushing's syndrome/ disease

 skeletal disorder

 chronic illness

 malabsorption

 congenital heart disease

 CF

 DM

 immunodeficiency

 hypopituitarism

 hypothyroidism

 Turner's syndrome

 Emotional problems

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

©www.uwgb.edu

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

 1:4000

 untreated leads to cretinism

 causes

 thyroid development anomalies

 iodine deficiencies

 TSH deficiency

 usually picked up on Guthrie test before symptomatic

 lifelong thyroxine replacement

 Acquired

 short stature

 slipped upper femoral epiphysis

 school work deterioration

 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

©www.afb.org

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!

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