Short Stature and Tall Staturedit

8/16/2019 Short Stature and Tall Staturedit

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Short stature and tall stature

Pediatric Endocrinology Division

H.Adam Malik Hospital/Medical School

University of Sumatera Utara


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ro!th• Normal growth

– "nfant – #hildhood

– Pu$erty

•Growth : change in size & maturation• Stature : size


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Infant

Infant Childhood

Childhood Puberty

Puberty

Cm/tahun

GHSex steroid

Growth Velocity Curve


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ro!th rate $y age

1-6 mo : 18 - 22 cm/yr

6-12 mo : 1 – 18 cm/yr

1 yr : 11 cm/yr

2 yr : 8 cm/yr ! yr : " cm/yr

– #u$erty : % – 6 cm/yr


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Potensi TinggiGeneti

Canali!ationCatch"down

I#$%#T P&'I()

Growth Chart

0 1 2 3

cm

tahun

Catch-up


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Evaluation of gro!th • nthro#ometry

– Standing % sitting & proportional – Arm span

• 'one age :

– P' ()' *U(

–+ormal' delayed' advanced

– prediction of final height


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ro!th chart• Growth cur(e

– +#HS' ,umadias' Husaini

• )lotting growth

– +ormal' short' tall

• *nter#retation o+ #lot

• )otential genetic height


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ro!th #hart

8,

8%

-,

-%

1,,

1,%

11,

11%

12,

12%

1!,

1!%

1,

1%

1%,

1%%

16,

16%

1",

1"%

18,

18%

1-,

1-%

2 6 8 1, 12 1 16 18

Age -years.

Height

-cm.

97

50

3


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ro!th #hart

8,

8%

-,

-%

1,,

1,%

11,

11%

12,

12%

1!,

1!%

1,

1%

1%,

1%%

16,

16%

1",

1"%

18,

18%

1-,

1-%

2 6 8 1, 12 1 16 18

Age -years.

Height

-cm.

97

50

3

HAHACACA

Potential Genetic HeightPotential Genetic Height


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one age• Greulich & )yle

– #omparison of left !rist – Prediction of 0H after 1 years

– (a$le ayley % Pinneau

• .anner hitehouse **

– Maturation of ossification center – More relia$le & scoring system

– complicated


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one Age• 2eft !rist

– reulich 3 Pyle – (anner4)hitehouse ""

– *)(

• 5ssification centre

• Prediction finalheight


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Short stature

• 0eight 2S• Se34 age an5 race

• )attern o+ growth more im#ortant rather thana$solute #osition on growth cur(e


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Short stature

– 6ariants of normal

– Prenatal onset

– Post natal onset


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6ariants of normal -normal gro!th velocity

• amilial short stature – Parents height genetically short

– normal $one age

– short adult

• 7onstitutional 5elay o+ growth & #u$erty – Delayed pu$erty in the family

– +ormal gro!th velocity

– normal adult height


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Prenatal onset• )rimary growth 5e+iciency

– Malformation – syndromes

• Secon5ary growth 5e+iciency

– 2o! maternal socioeconomic

– Undernutrition

– Maternal disorder or disease


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Etiology

• )rimary 5istur$ances o+ growth – Skeletal dysplasias

– #hromosomal a$normalities

– Meta$olic causes

– "U*

– Syndromes

– enetic


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9tiology• Secon5ary growth 5istur$ances

– Undernutrition – Disorder of the $o!el' kidney' heart' lung

– Psychosocial deprivation

– #hronic infection' drugs

– Endocrine disorder

– "diopathic gro!th delay


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Diagnostic Approach to Short StatureShort Stature

A$normal

+ormal

#onstitutional Delay+ormal 6ariant

Proportional Dysproportional

E7trauterine"ntrauterine


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Endocrinological causes

• Normal (ariant : 7G)• G0 e+iciency

• 0y#othyroi5

• )recocious )u$erty• 7ushings syn5rome

• )seu5ohy#o#arathyroi5ism


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(reatment • e#en5 on the etiology

– +utrition – 5rganic disease

• 704 *;

– Hormonal

•G04 .hyroi54 Se3 hormone

– Mechanical

• 'one lengthening : achon5ro#lasia


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H deficiency

• Short stature• 7hu$$y

• $5ominal a5i#osity

• ;icro#enis

• Single central incisor

• rontal $ossing

• )ro#ortional


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H Deficiency•


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#auses of H Deficiency• 7ongenital

– "diopathic – enetic

– Assosiated anatomic defect & S5D'midline defect

• c>uire5

– (rauma

– +eoplasma

– #ranial irradiation

– etc


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(reatment• ?aries: G0 1 - 21 *@/m2/5ay

•6 times/weeA• ;onitoring: – Height' velocity

– Side effect

• .erminate : – +o response 8 9 cm

– Epiphyseal plate closure


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#DP• amily history

• Growth (elocity normal• 'one age retar5e5

• )u$erty : late

• 5ult height : normal

• .reatment : No Nee5


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7ongenital hy#othyroi5ism•


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7ushings Syn5rome• 7orticosteroi5 e3cess

• Growth retar5ation 5ue to – "nterferring protein ana$olism

– "mpairing somatomedin production

• 0y#ertension

• C$esity #re5ominant : trunA an5 necA4 moon +ace

• istur$ances o+ glucose meta$olism

• )ur#le striae4 hirsutism4 osteo#orosis4 hy#ogona5ism

• ;uscular weaAness


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)seu5ohy#o#arathyroi5ism• Short stature

• ;ental retar5ation• l$rights osteo5ystro#hy

• oun5 +acies

• 9cto#ic calci+ication


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)ola #ertum$uhan linier


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Pola pertum$uhan


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#onclusion• Short stature

– Etiology & varies: endocrinology – (reata$le' depend on the etiology

– Psychosocial pro$lem

• Growth monitoring : im#ortant

• nthro#ometric measurement

– #lue to diagnosis


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(A22 S(A(U*E(A22 S(A(U*E(A22 S(A(U*E(A22 S(A(U*E


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"ntroduction

• e+inition.all stature : height D "th #ercentile +or age4

se3 & raceE

• 7ause

– "ntrinsic

– Ac;uired


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ro!th cessationro!th cessation

• )u$erty → se3 steroi5

Festrogen ↑ → e#i#hyseal+usion

• 'one age – irls


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#ountry -year of

ascertainmet

Height -$oys Height -girls

Mean or

median

-p@ Mean or

median

-p@

(he +etherlands -B 9.?


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#ountry -year of

ascertainment

Height -$oys Height -girls

Mean or

median-p@ Mean or

median-p@

0rance -


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+#HS-+#HS-- vs HUSA"+" - vs HUSA"+" --


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Familial genetic tall stature /

cnstitutinal Cere!ral gigantism "St#s s$n%rme&

'ar(an s$n%rme

Hmc$stinuria

'ulti)le en%crine ne)lasia t$)e *!

"ntrinsic tall stature"ntrinsic tall stature"ntrinsic tall stature"ntrinsic tall stature


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C+rmsme

,7- .YY line(elter s$n%rme ",1- ..Y&

Fragile . s$n%rme

Bec2it+4ie%emann s$n%rme "IGF*&

ea6er s$n%rme

Sim)sn4Gla!i4Be+mel s$n%rme "GC3&

Banna$an4Rile$4Ru6alca!a s$n%rme "8:&

;e(icienc$ ( armatase/lss ( (unctin

mutatins ( estrgen rece)tr "a& in male

"ntrinsic tall stature"ntrinsic tall stature"ntrinsic tall stature"ntrinsic tall stature


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In(ant ( %ia!etic mt+er "+$)erinsulinism&

O!esit$ "tall c+il% nrmal a%ult +eig+t&

Se


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Evaluation 3 History % PEEvaluation 3 History % PE• amily history Fconstitutional4 ;ar+an4 +amilial

#reco3 etc• e(elo#mental history

• 'irth weight an5 length

• Stigmata o+ syn5rome• )u$ertal status


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Evaluation 3 2a$Evaluation 3 2a$• Growth #attern

– Parallel or not

– Potential genetic height

• 'one age F#re5iction o+ +inal height

• s in5icate5 – #hromosome

– Mutation analysis – 5thers -hormonal' imaging' cardiovascular' eye etc


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(herapy(herapy• 7ausal

• 7onstitutional .all stature – reassurance

– oys& testosterone B??mg/m9/month

– irls& estradiol ?'< mg/day


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;ar+an-arachno5actyly


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;ar+an – su$lu3atio lentis


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;ar+an – +i$rillin Fconnecti(e


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SotoHs syn5rome• rare genetic 5isor5er with e3cessi(e #hysical growth

5uring the +irst 2 to ! years o+ li+eE

• mil5 mental retar5ation4 5elaye5 motor4 cogniti(e4an5 social 5e(elo#ment4 hy#otonia Flow muscletone4 an5 s#eech im#airmentsE

• large at $irth4 large hea5s Fmacrocrania

• 5is#ortionately large an5 long hea5 with a slightly#rotrusi(e +orehea54 large han5s an5 +eet4hy#ertelorism Fan a$normally increase5 5istance$etween the eyes4 an5 5ownslanting eyesE


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Short Stature and Tall Staturedit