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 hypopituitarism hypothyroidism Turner's syndrome 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 + 7cm (boys) -7 cm (girls) 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 Management bone age karyotype TFTs GH and IGF-1 coeliac screen inflammatory markers Management GH replacement IGF-1 replacement if GH resistance GH replacement works better when more GH deficient the child is IGF1 replacement is expensive

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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 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 ©hardballtalk.nbcsports.com Assessment Management 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 ©hardballtalk.nbcsports.com

Precocious puberty Girls > boys Gonadotropin dependent 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 ©www.pinterest.com 45 X0 Clinical features: 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 ©www.pinterest.com

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 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 diet: optimise control while maintainig growth high fibre (sustained glucose release)  carbohydrate counting ©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!

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