Paediatric “Endocrinology” - PowerPoint Presentation

Slide1

Paediatric “Endocrinology”

Katie HockingSlide2

Growth Charts plus a little “Endocrinology”

Katie HockingSlide3

Running Order

Growth Charts

Head Circumference

Length/Height

Weight

Growth Issues

Disorders of Puberty

Endocrinology Slide4

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 1yoNB correction for prematurity up to 2 yo0.4, 2, 9, 25, 50, 75, 91, 98, 99.6 centilesSlide5
Slide6
Slide7
Slide8

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

12-18 monthsSlide9
Slide10
Slide11
Slide12

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

)Slide13

Microcephaly:

Familial

AR Condition c Developmental Delay

Congenital InfectionSlide14

Microcephaly:

TBISlide15

Macrocephaly:

Raised ICPSlide16

Growth

Fetal

(30%)

Uterine Environment

Infantile (15%)

Nutrition

Good

health&Happiness

Thyroid

Childhood (40%)

Genes

Good

health&Happiness

Thyroid

GH

Pubertal (15%)

Testosterone/Oestrogen

GHSlide17

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

G

rowth velocity importantSlide18

Small from birth

Stable centile

Normal Bone age

Conclusion

:

Familial

Look at predicted range

IUGR or Severely PremLook at Hx and early Growth Charts

Predicted Height:

(

Mum+Dad

)/2

+ 7cm (boys)

-7 cm (girls)Slide19

Delayed puberty

Delayed bone age

Corrects self

Conclusion

:

Constitutional Delay of Growth and Puberty

Normal and common

Bone AgeSlide20

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

↑ CorticosteroidsSlide21

Falling off both centiles

Ht

centile>

Wt

centile

Delayed bone age

Conclusion

:Nutritional/Chronic IllnessMalabsorbtion; CRF; CF; DM; Congenital Heart Dx; Imm

Def

Psychosocial

ALWAYS HAVE A DEGREE OF SUSPICION!!!

Failure to ThriveSlide22

Turners Syndrome (XO)

Noonan Syndrome

Russell-Silver SyndromeSlide23

Achondroplasia

Disproportionate Short Stature

mutation in FGFR-3

80% sporadic

20% AD

Results in overactive FGFR

Suppresses growth of long bonesSlide24

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 lessSlide25

Prematurity

For infants born from

32 weeks



36 weeks 6 days

:

plot

weight and head circumference at birth in the preterm sectionSlide26
Slide27

Tim’s Age

Gestation

Weight (kg)

Birth

33

2

1

wk

34

1.89

2

wk

35

2

5

wk

38

2.6

9

wk

42

3.4

Prematurity

For infants born from

32 weeks



36 weeks 6 days

:

plot

weight

and

head

circumference

at birth in the

preterm sectionSlide28

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 earlySlide29

PRACTICE!!!

http://www.rcpch.ac.uk/improving-child-health/public-health/uk-who-growth-charts/uk-who-growth-charts-0-18-yearsSlide30

Puberty

D

efined sequence of changes leading to full sexual development

Female:

B

reast development (8.5-12.5 years)

P

ubic hair growth

Rapid height spurt

M

enarche

Male:

Testicular enlargement

P

ubic hair growth

H

eight spurtSlide31

Premature Sexual Development

Females <8yo

Males <9yo

Precocious Puberty (Growth spurt included)

Thelarche

(Breast)

Pubarche

(Pubic hair)Slide32

Precocious Puberty

Females

Usually premature onset of normal puberty

Males

Usually Central organic CauseSlide33

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

)Slide34

Delayed Puberty

Females

14

yo

Could be a central or constitutional delay

Males

15

yo

Constitutional DelaySlide35

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; surgerySlide36

Sexual Differentiation - CAH

Female virilisation (46XX)

Clitoral hypertrophy and labial fusion, no

desc

. Testis

↑ 17

α

-hydroxyprogesteroneSalt losers? ↓Na; ↑K???; hypoglycaemicSlide37

Pure Simple EndocrineSlide38

Diabetes

4 Types:

Insulin Dependent

Non-Insulin Dependent

Specific Types

B-cell dysfunction

 MODY

Defective insulin action

Pancreatic disease (e.g. CF)

Cushing’s

Chromosomal syndromes (Downs, Turners)

Gestational

Type-1 Diabetes

Classic triad:

polydipsia

polyuria

weight loss

Treat by replacing insulin

MDT approach

E

ducation

M

onitoring and injection technique

Diet

S

ick day rules to avoid DK

A

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 pubertySlide39

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!Slide40

Kussmaul Breathing

K

etoacidosis

U

raemia

S

epsis

S

alicylates

M

ethanol

A

ldehydes

U

L

actateSlide41

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

SUFESlide42

Inborn errors of MetabolismSlide43
Slide44

Inborn errors of Metabolism

Category

Disease

Enzyme Issues

CFs

Rx

Amino Acid

PKU

No phenylalanine hydroxylase or it’s cofactor

DD; musty smelling; seizures;

Fair skin & hair

Reduced dietary phenylalanine

Homocystinuria

No cystathionine

synthetase

DD&LD; ocular lens subluxation;

marfanoid

Sk

;

ψ

; Convulsions;

Fair skin & hair

Give co-enzyme (50%);

Diet +

remethylating

agent (50%

Carbohydrate

Galactosaemia

(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 feedsSlide45
Slide46

Thanks for Listening

Any

paeds

based questions, just ask =)

kch30