GANGGUAN GANGGUAN PERTUMBUHAN PADA PERTUMBUHAN PADA

ANAKANAK

Gangguan pertumbuhanGangguan pertumbuhan

Perawakan normalPerawakan normal pertumbuhan pertumbuhan

tergangguterganggu

G r o w t h C h a r t

8 0

8 5

9 0

9 5

1 0 0

1 0 5

1 1 0

1 1 5

1 2 0

1 2 5

1 3 0

1 3 5

1 4 0

1 4 5

1 5 0

1 5 5

1 6 0

1 6 5

1 7 0

1 7 5

1 8 0

1 8 5

1 9 0

1 9 5

2 4 6 8 1 0 1 2 1 4 1 6 1 8

A g e ( y e a r s )

H e i g h t ( c m )

97

50

3

Gangguan pertumbuhanGangguan pertumbuhan

Perawakan pendekPerawakan pendek pertumbuhan normalpertumbuhan normal

G r o w t h C h a r t

8 0

8 5

9 0

9 5

1 0 0

1 0 5

1 1 0

1 1 5

1 2 0

1 2 5

1 3 0

1 3 5

1 4 0

1 4 5

1 5 0

1 5 5

1 6 0

1 6 5

1 7 0

1 7 5

1 8 0

1 8 5

1 9 0

1 9 5

2 4 6 8 1 0 1 2 1 4 1 6 1 8

A g e ( y e a r s )

H e i g h t ( c m )

97

50

3

ETIOLOGI PERAWAKAN ETIOLOGI PERAWAKAN PENDEKPENDEK

Perawakan pendek dapat disebabkan oleh kelainan Perawakan pendek dapat disebabkan oleh kelainan endokrin ataupun non endokrin sepertiendokrin ataupun non endokrin seperti

Genetik atau familialGenetik atau familial Kelainan kromosom atau sindrom tertentuKelainan kromosom atau sindrom tertentu Penyakit kronisPenyakit kronis Gangguan giziGangguan gizi Deprivasi psikososialDeprivasi psikososial Skeletal disorderSkeletal disorder Intra Uterine Growth Retardation (IUGR)Intra Uterine Growth Retardation (IUGR) Constitutional Delay of Growth and Pubeerty (CDGP)Constitutional Delay of Growth and Pubeerty (CDGP) Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.

PERAWAKAN PENDEKPERAWAKAN PENDEK

YAYA

PATOLOGISPATOLOGIS

KECEPATAN TUMBUH NORMAL?KECEPATAN TUMBUH NORMAL?

TIDAK

TIDAK

VARIAN NORMALVARIAN NORMAL

PROPORSI ?PROPORSI ? DISMORFISM ?DISMORFISM ?

BB/TB?BB/TB?

PERAWAKAN PENDEKPERAWAKAN PENDEK

PATOLOGISPATOLOGIS

PROPORSIONALPROPORSIONAL

BB/TB BB/TB

ENDOKRIN

•DEFISIENSI GH

•HIPOTROID

•KORTISOL

•PSEUDOHIPOPARATIROID

ENDOKRIN

•DEFISIENSI GH

•HIPOTROID

•KORTISOL

•PSEUDOHIPOPARATIROID

BB/TB BB/TB

•MALNUTRISI

•INFEKSI KRONIS

•PENYAKIT KRONIS (ORGANIK)

•PSIKOSOSIAL

•IUGR

•MALNUTRISI

•INFEKSI KRONIS

•PENYAKIT KRONIS (ORGANIK)

•PSIKOSOSIAL

•IUGR

KELAINAN DISMORFIK

KELAINAN DISMORFIK

DISPROPORSIONALDISPROPORSIONAL

PERAWAKAN PENDEKPERAWAKAN PENDEK

PATOLOGISPATOLOGIS

KELAINAN DISMORFIKKELAINAN DISMORFIKDISPROPORSIONALDISPROPORSIONAL

•DISPLASIA TULANG

A/HIPO CHONDROPLASIA

•KELAINAN METABOLIK

RICKETS

•GANGGUAN SPINAL

RADIASI KRANIOSPINAL

SPONDYLODYSPLASIA

•DISPLASIA TULANG

A/HIPO CHONDROPLASIA

•KELAINAN METABOLIK

RICKETS

•GANGGUAN SPINAL

RADIASI KRANIOSPINAL

SPONDYLODYSPLASIA

•KELAINAN KROMOSOM

TRISOMI 21

SINDROM TURNER

•SINDROM-SINDROM ( IUGR)

FETAL ALCOHOL, RUSSELL-SILVER, PRADER-WILLI,

NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll

•KELAINAN KROMOSOM

TRISOMI 21

SINDROM TURNER

•SINDROM-SINDROM ( IUGR)

FETAL ALCOHOL, RUSSELL-SILVER, PRADER-WILLI,

NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll

PERAWAKAN PENDEKPERAWAKAN PENDEK

VARIAN NORMALVARIAN NORMAL

FAMILIAL SSFAMILIAL SS CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY

CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY

USIA TULANG = USIA KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI POTENSI GENETIK

USIA TULANG = USIA KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI POTENSI GENETIK

USIA TULANG < USIA KRONOLOGISTINGGI DEWASA > PERSENTIL-3SESUAI POTENSI GENETIKRIWAYAT KELUARGA (+)

USIA TULANG < USIA KRONOLOGISTINGGI DEWASA > PERSENTIL-3SESUAI POTENSI GENETIKRIWAYAT KELUARGA (+)

Pola-pola pertumbuhan linierPola-pola pertumbuhan linier

Pola-pola pertumbuhan linierPola-pola pertumbuhan linier

Sindrom Turner (ST)Sindrom Turner (ST)

Tinggi dewasaTinggi dewasa 137-146.8 cm 137-146.8 cm Etiologi perawakan pendekEtiologi perawakan pendek

aksis longitudinal tubuh aksis longitudinal tubuh gangguan tulang panjang lebih berat dari gangguan tulang panjang lebih berat dari

vertebravertebra(Lippe, 1993)(Lippe, 1993)

Rosenfeld et al (1994)Rosenfeld et al (1994)Pemberian dini terapi GHPemberian dini terapi GHKombinasi GH + oxandroloneKombinasi GH + oxandroloneEstrogen Estrogen induksi pubertas induksi pubertas

PenatalaksanaanPenatalaksanaan

Familial short stature : tidak diterapiFamilial short stature : tidak diterapiConstitutional delay of growth and puberty Constitutional delay of growth and puberty

(CDGP): tidak diterapi(CDGP): tidak diterapiTergantung kausal : nutrisi, infeksi, dllTergantung kausal : nutrisi, infeksi, dllHormonal : GH, tiroid, sex steroidHormonal : GH, tiroid, sex steroidDysproporsional SS : achondroplasia, Dysproporsional SS : achondroplasia,

osteogenesis imperfecta, sindr. Down, dll; osteogenesis imperfecta, sindr. Down, dll; tidak diterapitidak diterapi

Anak umur 5 tahun ,) Anak umur 5 tahun ,)

Tall StatureTall StatureTall StatureTall Stature

IntroductionIntroduction

Definition Definition Tall stature : height above 97Tall stature : height above 97thth percentile percentile for age, sex and race.for age, sex and race.

GH excess, occurs during childhood when GH excess, occurs during childhood when open epiphyseal growth plates allow for open epiphyseal growth plates allow for excessive linear growthexcessive linear growth

CauseCause Intrinsic Intrinsic AcquiredAcquired

Growth cessationGrowth cessationGrowth cessationGrowth cessation

Puberty Puberty sex steroid sex steroid (estrogen) (estrogen) epiphyseal fusionepiphyseal fusion

Bone ageBone age Girls 14 – 16 yrsGirls 14 – 16 yrs Boys 18 – 20 yrsBoys 18 – 20 yrs

Sex steroid & growthSex steroid & growth Low dose: stimulateLow dose: stimulate High dose: inhibitHigh dose: inhibit

Short Stature HistoryShort Stature History

Mother and fathers heights.Mother and fathers heights.

MPH = M(cm) + F (cm) MPH = M(cm) + F (cm) 13 cm /2.13 cm /2.

MPH range MPH range 8 cm.8 cm.

FH short stature: males <165 cmFH short stature: males <165 cm

females <152 cmfemales <152 cm

FH delayed puberty: menarche >14 yrs in FH delayed puberty: menarche >14 yrs in females and continued growth after high females and continued growth after high school in males.school in males.

Look at other sibs child development Look at other sibs child development records.records.

Child Development recordChild Development record

A valuable source of information.A valuable source of information.

Look at all available height and weight Look at all available height and weight measurements and growth trend.measurements and growth trend.

Remember that Plunket height Remember that Plunket height measurements are not precise and may be measurements are not precise and may be misleading.misleading.

Check developmental milestones and Check developmental milestones and illnesses.illnesses.

SoalSoal

Data anak lelaki Data anak lelaki usia 7tahun 4 bulan : 110 cm; bone age 5 usia 7tahun 4 bulan : 110 cm; bone age 5

tahuntahunusia 8 tahun : 114 cm; bone age; 6 tahunusia 8 tahun : 114 cm; bone age; 6 tahunusia 9 tahun 6 bulan : 122 cm; bone age 7 usia 9 tahun 6 bulan : 122 cm; bone age 7

tahuntahunTinggi ayah 172 cm, tinggi ibu 166 cmTinggi ayah 172 cm, tinggi ibu 166 cm Ibu menarche 15 tahunIbu menarche 15 tahun

EVALUASI PERTUMBUHAN ANAK INI!EVALUASI PERTUMBUHAN ANAK INI!

Growth Chart

80

85

90

95

100

105

110

115

120

125

130

135

140

145

150

155

160

165

170

175

180

185

190

195

2 4 6 8 10 12 14 16 18

Age (years)

Height (cm)

Familial Short Stature

Growth Chart

80

85

90

95

100

105

110

115

120

125

130

135

140

145

150

155

160

165

170

175

180

185

190

195

2 4 6 8 10 12 14 16 18

Age (years)

Height (cm)

Constitutional Delay of Growth & Puberty

Normal Variant Short Normal Variant Short StatureStature

FSSFSS CDGDCDGD

Bone AgeBone Age <1 yr from CA<1 yr from CA >1 yr from >1 yr from CACA

PubertyPuberty On timeOn time DelayedDelayed

Final HeightFinal Height Short Short NormalNormal

Pathological short staturePathological short stature

Proportionate:Proportionate: IUGRIUGR

syndromessyndromes

chronic illnesschronic illness

drugsdrugs

psychsocial deprivationpsychsocial deprivation

Disproportionate:Disproportionate: Syndromes (partic Turner Syndromes (partic Turner S)S)

hypothyroidismhypothyroidism

Skeletal dysplasiasSkeletal dysplasias

IUGR/SGAIUGR/SGA

Intrauterine growth retardation or small for Intrauterine growth retardation or small for gestational age.gestational age.

Very common.Very common.

Birth weight <10th PC for gestational age.Birth weight <10th PC for gestational age.

Catch-up growth above 3rd PC usually Catch-up growth above 3rd PC usually occurs by 6 mos of age but may drag on to occurs by 6 mos of age but may drag on to 2 yrs.2 yrs.

Short stature by 2 yrs usually associated Short stature by 2 yrs usually associated with short final height.with short final height.

As a group these children do not reach As a group these children do not reach MPHs.MPHs.

Approx 10% become short adults.Approx 10% become short adults.

Turner SyndromeTurner Syndrome

Consider in all girls with unexplained short Consider in all girls with unexplained short stature or Ht below MPH range.stature or Ht below MPH range.

Commonest feature is short for MPH Commonest feature is short for MPH (100%).(100%).

50% will only have short stature as clinical 50% will only have short stature as clinical feature.feature.

Present with short stature, poor HV or Present with short stature, poor HV or delayed puberty.delayed puberty.

Normal Growth

The ICP (infant/child/puberty) model of growth (Karlberg model)

Mathematically growth is characterised by 3 periods of growthInfant - Birth to 2 years. Rapid growth at birth declining

rapidly over the first 2 years of life – less growth hormone dependent.

Childhood - 2 years until puberty. Relatively constant annual growth - growth hormone dependent.

Puberty - growth primarily dependent on sex steroids and increased growth hormone release. Sex steroids cause eventual fusion of skeletal epiphyses and growth arrest.

Familial genetic tall stature / constitutional

Cerebral gigantism (Soto’s syndrome)

Marfan syndrome

Homocystinuria

Multiple endocrine neoplasia type 2b

Intrinsic tall statureIntrinsic tall statureIntrinsic tall statureIntrinsic tall stature

Chromosome 47, XYY; Klinefelter syndrome (46, XXY); Fragile X syndrome

Beckwith-Wiedemann syndrome (IGF2)

Weaver syndrome

Simpson-Golabi-Behmel syndrome (GPC3)

Bannayan-Riley-Ruvalcaba syndrome (PTEN)

Deficiency of aromatase/loss of function mutations of estrogen receptor (a) in male

Intrinsic tall statureIntrinsic tall statureIntrinsic tall statureIntrinsic tall stature

Infant of diabetic mother (hyperinsulinism)

Obesity (tall child normal adult height)

Sexual precocity (tall child but short adult)

Primary hypogonadism (eunuchoid)

Hyperthyroidism

Growth hormone excess (Gigantism, acromegaly)

Acquired tall statureAcquired tall statureAcquired tall statureAcquired tall stature

Evaluation – History & PEEvaluation – History & PE

Family history (constitutional, Marfan, Family history (constitutional, Marfan, familial precox etc)familial precox etc)

Developmental historyDevelopmental historyBirth weight and lengthBirth weight and lengthStigmata of syndromeStigmata of syndromePubertal statusPubertal status

Evaluation – LabEvaluation – Lab

Growth patternGrowth pattern Parallel or notParallel or not Potential genetic heightPotential genetic height

Bone age (prediction of final height)Bone age (prediction of final height) As indicatedAs indicated

Chromosome Chromosome Mutation analysisMutation analysis Others (hormonal, imaging, cardiovascular, eye etc)Others (hormonal, imaging, cardiovascular, eye etc)

Marfan-arachnodactylyMarfan-arachnodactyly

Soto's syndromeSoto's syndrome

rare genetic disorder with excessive physical rare genetic disorder with excessive physical growth during the first 2 to 3 years of life. growth during the first 2 to 3 years of life.

mild mental retardation, delayed motor, mild mental retardation, delayed motor, cognitive, and social development, hypotonia cognitive, and social development, hypotonia (low muscle tone), and speech impairments. (low muscle tone), and speech impairments.

large at birth, large heads (macrocrania) large at birth, large heads (macrocrania) disportionately large and long head with a disportionately large and long head with a

slightly protrusive forehead, large hands and slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased feet, hypertelorism (an abnormally increased distance between the eyes), and downslanting distance between the eyes), and downslanting eyes. eyes.

Klinefelter syndromeKlinefelter syndrome

Tall statureTall statureChromosom : 47, XXYChromosom : 47, XXYTend to gynecomastia, Ca. mammaeTend to gynecomastia, Ca. mammaeMicropenis, infertilityMicropenis, infertility

TherapyTherapy

CausalCausalConstitutional Tall statureConstitutional Tall stature

reassurancereassuranceBoys: testosterone 500mg/m2/monthBoys: testosterone 500mg/m2/monthGirls: estradiol 0,1 mg/dayGirls: estradiol 0,1 mg/day

PENDEKATAN DIAGNOSIS GANGGUAN PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPERTUMBUHAN

Kreteria awal untuk pemeriksaan lebih lanjut :Kreteria awal untuk pemeriksaan lebih lanjut :1.1. Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-

rata untuk umur kronologisnyarata untuk umur kronologisnya2.2. Kecepatan tumbuh dibawah persentil ke 25 kurva Kecepatan tumbuh dibawah persentil ke 25 kurva

kecepatan tumbuh atau kurang dari 4 cm /tahun pada kecepatan tumbuh atau kurang dari 4 cm /tahun pada anak berumur 4-10 bulan.anak berumur 4-10 bulan.

3.3. Prakiraan tinggi dewasa dibawah potensi tinggi Prakiraan tinggi dewasa dibawah potensi tinggi genetiknya.genetiknya.

4.4. Kecepatan tumbuh melambat setelah umur 3 tahun Kecepatan tumbuh melambat setelah umur 3 tahun dan turun menyilang garis persentilnya pada kurva dan turun menyilang garis persentilnya pada kurva panjang/tinggi badan .panjang/tinggi badan .

PENDEKATAN DIAGNOSIS GANGGUAN PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPERTUMBUHAN

ANAMNESISANAMNESIS

Riwayat perinatal, panjang / berat lahir, trauma Riwayat perinatal, panjang / berat lahir, trauma lahirlahir

Riwayar tumbuh kembangRiwayar tumbuh kembang

Asupan nutrisiAsupan nutrisi

Riwayat penyakitRiwayat penyakit

Lingkungan psikosoaialLingkungan psikosoaial

PENDEKATAN DIAGNOSIS GANGGUAN PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPERTUMBUHAN

PEMERIKSAAN FISIKPEMERIKSAAN FISIK

Stigmata sindrom dismorfik / kromosomStigmata sindrom dismorfik / kromosom

Tingkat kecerdasanTingkat kecerdasan

Tanda / gejala penyakit sistemikTanda / gejala penyakit sistemik

Tanda KEPTanda KEP

Tingkat maturasi kelaminTingkat maturasi kelamin

AntropometriAntropometri

PENDEKATAN DIAGNOSIS PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANGANGGUAN PERTUMBUHAN

FT4, TSHFT4, TSH LED, darah rutin (LED, darah rutin (CBC)CBC) Elektrolit, BUN, creatinin, urinalisis, Elektrolit, BUN, creatinin, urinalisis,

tinjatinja Skrining TBC Skrining TBC Umur tulang (Umur tulang (bone age)bone age) Rujuk untuk pemeriksaan GH / IGF-1Rujuk untuk pemeriksaan GH / IGF-1

PEMERIKSAAN PENUNJANG

ACHONDROPLASIA

HIPOTIROID DIDAPAT

HIPOTIROID KONGENITA

L

KESIMPULANKESIMPULAN

Pertumbuhan menggambarkan keadaan Pertumbuhan menggambarkan keadaan kesehatan seorang anakkesehatan seorang anak

Pemantauan pertumbuhan memerlukan Pemantauan pertumbuhan memerlukan pengukuran teratur dengan alat yang tepat,pengukuran teratur dengan alat yang tepat,

penting interpretasi hasil pemantauanpenting interpretasi hasil pemantauan Perlu diingat bahwa gangguan pertumbuhan Perlu diingat bahwa gangguan pertumbuhan lebih sering disebabkan oleh kelainan non-lebih sering disebabkan oleh kelainan non-

endokrinendokrin