the low-down on an evidence-based approach to shortstature 2015... · evidence-based approach to...

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The Low-Down on anEvidence-Based Approachto Short Stature

AKASH SINHAMBBS, MD/PHD, MRCPCH, FRCPCPAEDIATRIC ENDOCRINOLOGIST/ PAEDIATRICIANABBOTSFORD2015

Disclosures

I have none to declare

Introduction Important in all areas of medicine dealing with children

Perceived or real impairment of growth Referred due to physical, psychological or social difficulties In most it is a variation of normal physiology rather than a

pathological cause However all need logical process of assessment

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Background

Phases of growth

Prenatal Genetics Maternal size Maternal health Nutritional supply

Postnatal

Predominantly interested in postnatal growth Different influences

Example of prenatal influencesInfant of a diabetic mother Congenital hypothyroidism

FASCongenital infection

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Phases of growth

Prenatal

Postnatal Genetics

Parental size

Nutrition

Health

Hormones

Phases of linear growth

Height velocity curves Individual height curves

Nutrition

Growthhormone

Sex steroids

Early wobble

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Finding your centile

Pubertal growth♀: Growth spurt 2 yearsbefore boys, at start of clinicalpuberty

Peak height velocity ~12 years

Followed by menarche

Peak height velocity ~8 cm/yr

♂: Growth spurt when pubertyalready well established(testicular volume 10-12 mls)

Peak height velocity ~14 years

Peak height velocity ~10cm/yr

♂>♀ height by ~13-13.5 cm

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Causes of short stature

Causes of short stature

Familial(short parents)

Delayed puberty

SGA

ChronicillnessChromosomes

Syndromes

Bony dysplasias

Nurture

Hormones

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Familial short stature

Familial(short parents)

CalculateMidParentalheight

Boy: Father + [Mother+13cm]/2+/- 8.5cm

Girl: [Father-13cm]/2+ Mother+/- 8.5cm

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Constitutional delay of growthand puberty

Familial(short parents)

Delayed puberty

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Small for gestational age

Familial(short parents)

Delayed puberty

SGA

85% show‘catch-up’growth..

the rest staysmall =15%

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Chronic illness

Familial(short parents)

Delayed puberty

Chronicillness

SGA

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Chromosomes

Familial(short parents)

Delayed puberty

Chronicillness

SGA

Chromosomes

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SHOX gene

DownsDownsSyndromeSyndrome

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Syndromes

Familial(short parents)

Delayed puberty

Chronicillness

SGA

Chromosomes

Syndromes

PraderPrader WilliWilliSyndromeSyndrome

NoonanNoonanSyndromeSyndrome

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SilverSilverRussellRussell

SyndromeSyndrome

Bony dysplasias

Familial(short parents)

Delayed puberty

Chronicillness

SGA

Chromosomes

Syndromes

Bonydysplasias

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Nurture

Familial(short parents)

Delayed puberty

Chronicillness

SGA

Chromsomes

Syndromes

Bonydysplasias

Nurture

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Hormones

Familial(short parents)

Delayed puberty

SGA

ChronicillnessChromosomes

Syndromes

Bony dysplasias

Nurture

Hormones

Endocrine disorders

Growth hormone insufficiency

Pseudohypoparathyroidism

Hypothyroidism

Cushing’s syndrome

GH resistance (Laron syndrome)

** Height/weight comparison **

Causes GH insufficiency

GeneticGH-1 or GHRH receptor mutations Pit-1, Prop-1 mutations

CongenitalGHRH deficiency (~80%, isolated GH deficiency) Structural defects: SOD, holoprosencephaly, agenesis

of corpus callosum Intrauterine infections

AcquiredCNS tumours: cranio, germinoma, optic glioma LCH, inflammatory disease Head injury, cranial irradiation

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Diagnosis GH deficiency Diagnosis not easy! Auxological data:

Short with height below parental target Subnormal height velocity

Dysmorphic features-mid facial crowding and central adiposity Biochemical data:

Isolated GH level no use IGF-1 occasionally helpful GH stimulation tests

Glucagon

Insulin tolerance test

Radiological data: Abnormal MRI pituitary gland

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Baseline investigations

Accurate history, examination and auxologicaldata most important

Baseline investigations

Accurate history, examination and auxologicaldata most important

Baseline investigations

Accurate history, examination and auxologicaldata most important

If required:CBC, ESR/CRP Lytes,BUN, creatinine, bicarbonateCalcium, phosphate, PTH, liver enzymesCoeliac screen Karyotype (girls) TFTs, prolactin, IGF-1 Bone age

? Genetics opinion if dysmorphic /disproportionate

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1 2

12

1 2

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Twin 2

Twin 1

Twin 2

2

1

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Summary The shorter the child, the more

probability of a pathology

Summary The shorter the child, the more

probability of a pathology The further away from the

parental target height, the moreprobability of a pathology

The most useful tool is a GROWTHCHART

Summary The shorter the child, the more

probability of a pathology The further away from the

parental target height, the moreprobability of a pathology

The most useful tool is a GROWTHCHART

Children with GHD are not slimand do not have a well-definedmusculature

The short, heavy child is morelikely to have pathology than arelatively tall, heavy child