Paediatric “Endocrinology” Katie Hocking

Growth Charts plus a little “Endocrinology” Katie Hocking

Running Order Growth Charts Head Circumference Length/Height Weight Growth Issues Disorders of Puberty Endocrinology

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

Head Size – Quick Fire Can you spot the mistake? Most head growth within: 80% of adult size before: Posterior Fontanelle closed by: Anterior Fontanelle closed by: 2 years 5 years 8 weeks months

MICRO CEPHALY Familial AR Condition c Developmental Delay Congenital Infection Brain Injury MACRO CEPHALY Familial Tall Stature Raised ICP/Hydrocephalus Cerebral SOL CSDH Neurofibromatosis (NF) Cerebral Giantism (Sotos Synd) CNS Storage Dx (Hurler’s Synd)

Microcephaly: Familial AR Condition c Developmental Delay Congenital Infection

Microcephaly: TBI

Macrocephaly: Raised ICP

Growth Fetal (30%) Uterine Environment Infantile (15%) Nutrition Good health&Happiness Thyroid Childhood (40%) Genes Good health&Happiness Thyroid GH Pubertal (15%) Testosterone/Oestrogen GH

Short Stature Familial IUGR; Extreme Prem Constitutional Delay of Growth ↓ T 3/4 ; ↓ GH ; Hypopituitarism ↑ Corticosteroids Chronic Illness Malabsorbtion; CRF; CF; DM; Congenital Heart Dx; Imm Def; PsychoSocial or Poor Nutrition Chromosomal Dx Turners (XO); Noonan’s; Downs (Tri-21); Russell-Silver Disproportionate Short Stature Achondroplasia; Storage Dx Height below 0.4th centile Need ≥2 measurements 6 months apart Growth velocity important

Small from birth Stable centile Normal Bone age Conclusion: Familial Look at predicted range IUGR or Severely Prem Look at Hx and early Growth Charts Predicted Height: (Mum+Dad)/2 + 7cm (boys) -7 cm (girls)

Delayed puberty Delayed bone age Corrects self Conclusion: Constitutional Delay of Growth and Puberty Normal and common Bone Age

Left: Twins age 12 Right: Twins post treatment Falling off height centiles Wt centile>Ht centile Marked delayed bone age Conclusion: ENDOCRINE CAUSES ↓ T 3/4 ; ↓ GH ; Hypopituitarism ↑ Corticosteroids

Falling off both centiles Ht centile>Wt centile Delayed bone age Conclusion: Nutritional/Chronic Illness Malabsorbtion; CRF; CF; DM; Congenital Heart Dx; Imm Def Psychosocial ALWAYS HAVE A DEGREE OF SUSPICION!!! Failure to Thrive

Turners Syndrome (XO) Noonan Syndrome Russell-Silver Syndrome

Achondroplasia Disproportionate Short Stature mutation in FGFR-3 80% sporadic 20% AD Results in overactive FGFR Suppresses growth of long bones

Tall Stature Familial Obesity* Puberty is advanced Secondary CAH* Excess Sex Steroids* True Giantism Long Leg Syndromes Marfan’s Kleinfelters XXY *Early epiphyseal fusion, so end height is less

Prematurity For infants born from 32 weeks  36 weeks 6 days: plot weight and head circumference at birth in the preterm section

Tim’s AgeGestationWeight (kg) Birth332 1 wk wk352 5 wk wk423.4 Prematurity For infants born from 32 weeks  36 weeks 6 days: plot weight and head circumference at birth in the preterm section

Prematurity Number of weeks early = 40 weeks minus gestational age at birth You should never gestationally correct for babies born after 36 weeks and 6 days. All such babies are considered “term”. Eg: Baby born at 34wks i.e.6wks early

PRACTICE!!! health/uk-who-growth-charts/uk-who-growth-charts years

Puberty Defined sequence of changes leading to full sexual development Female: Breast development ( years) Pubic hair growth Rapid height spurt Menarche Male: Testicular enlargement Pubic hair growth Height spurt

Premature Sexual Development Females <8yo Males <9yo Precocious Puberty (Growth spurt included) Thelarche (Breast) Pubarche (Pubic hair)

Precocious Puberty Females Usually premature onset of normal puberty Males Usually Central organic Cause

Precocious Puberty Gonadotrophin Dependent GnRH LH++ FSH + Oestrogen ++ Testosterone ++ Idiopathic/Familial CNS/Pituitary Dx Gonadotrophin Independent GnRH - LH - FSH - Oestrogen ++ Testosterone ++ CAH; Adrenal Tumour Ovarian CA (granulosa) Testicular CA (leydig)

Delayed Puberty Females 14 yo Could be a central or constitutional delay Males 15 yo Constitutional Delay

Delayed Puberty LOW Gonadotrophin Systemic Dx CF; IBD; Organ failure; Anorexia Nervosa Hypothalamopituitary Dx Panhypopituitarism Cranial SOL Kallmann Synd (Anosmia and LHRH def) Acq. Hypothyroidism HIGH Gonadotrophin Chromosomal Abnormalities Klinefelters (47XXY) Turner’s (45 XO) Adrenal failure Acquired gonadal damage Chemo/RT; torsion; surgery

Sexual Differentiation - CAH Female virilisation (46XX) Clitoral hypertrophy and labial fusion, no desc. Testis ↑ 17 α - hydroxyprogesterone Salt losers? ↓Na; ↑K???; hypoglycaemic

Pure Simple Endocrine

Diabetes 4 Types: 1.Insulin Dependent 2.Non-Insulin Dependent 3.Specific Types B-cell dysfunction  MODY Defective insulin action Pancreatic disease (e.g. CF) Cushing’s Chromosomal syndromes (Downs, Turners) 4.Gestational Type-1 Diabetes Classic triad: polydipsia polyuria weight loss Treat by replacing insulin MDT approach Education Monitoring and injection technique Diet Sick day rules to avoid DKA Regular R/Vs Screen for Coeliac & Thyroid Dx Tx adherence is difficult Try to suit lifestyle Huge psychosocial stress placed on child GH; Oestrogen; Testosterone All antagonise Insulin ∴ increase insulin during puberty

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 Actrapid infusion Give glucose and K+ SENIOR HELP NEEDED identify reasons, educate!

Kussmaul Breathing Ketoacidosis Uraemia Sepsis Salicylates Methanol Aldehydes U Lactate

Hypothyroidism 1:4000 Untreated leads to cretinism Reversible retardation and stunted growth Guthrie test (TSH levels) Causes: Maldescent; Dyshormonogenesis; Iodine Def; TSH def (hypopituitarism?) Also acquired as AI Dx in: Down’s; Turners; T1DM; Addison's Clinical Features Congenital Failure to thrive Feeding problems & Constipation Coarse facial features Large tongue Umbilical hernia Acquired Short stature & Delayed puberty Cold intolerance; dry skin; puffy eyes SUFE

Inborn errors of Metabolism

CategoryDiseaseEnzyme IssuesCFsRx Amino AcidPKUNo phenylalanine hydroxylase or it’s cofactor DD; musty smelling; seizures; Fair skin & hair Reduced dietary phenylalanine HomocystinuriaNo cystathionine synthetase DD&LD; ocular lens subluxation; marfanoid Sk; ψ; Convulsions; Fair skin & hair Give co-enzyme (50%); Diet + remethylating agent (50% CarbohydrateGalactosaemia (AR) GALT deficiency, so cannot metab galactose Jaundice; hepatomegaly; Chronic Liver Dx; Cataracts; DD Lactose and galactose free diet Glycogen Storage Dx (AR) Cannot mobilise glucose from glycogen Ranges of: Organomegaly; SkM weakness; Cardiomyopathy Maintain glucose by constant feeds

Thanks for Listening Any paeds based questions, just ask =) kch30