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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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