GANGGUAN PERTUMBUHAN

PADA ANAK
Konsep dasar gangguan
pertumbuhan
• perawakan pendek apabila tinggi badan berada >-2
SD kurva pertumbuhan untuk usia dan jenis
kelamin dan masyarakat yang sama
• perawakan tinggi apabila tinggi badan berada >+2
SD kurva pertumbuhan untuk usia dan jenis
kelamin dan masyarakat yang sama
• gangguan pertumbuhan apabila kecepatan tumbuh
persentil 25 pada kurva kecepatan tumbuh atau
pertumbuhan tidak berjalan paralel dgn kurva
pertumbuhan
 Gangguan pertumbuhan

• Perawakan normal
• pertumbuhan terganggu
G r o w t h C h a r t
1 9 5

1 9 0
97
1 8 5

1 8 0

1 7 5 50
1 7 0

1 6 5 3
1 6 0

1 5 5

1 5 0

1 4 5

H e ig h t 1 4 0

(c m ) 1 3 5

1 3 0

1 2 5

1 2 0

1 1 5

1 1 0

1 0 5

1 0 0

9 5

9 0

8 5

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

A g e ( y e a r s )
 Gangguan pertumbuhan

• Perawakan pendek
• pertumbuhan normal
G r o w t h C h a r t
1 9 5

1 9 0
97
1 8 5

1 8 0

1 7 5 50
1 7 0

1 6 5 3
1 6 0

1 5 5

1 5 0

1 4 5

H e ig h t 1 4 0

(c m ) 1 3 5

1 3 0

1 2 5

1 2 0

1 1 5

1 1 0

1 0 5

1 0 0

9 5

9 0

8 5

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

A g e ( y e a r s )
 ETIOLOGI PERAWAKAN PENDEK

Perawakan pendek dapat disebabkan oleh kelainan endokrin

ataupun non endokrin seperti
• Genetik atau familial
• Kelainan kromosom atau sindrom tertentu
• Penyakit kronis
• Gangguan gizi
• Deprivasi psikososial
• Skeletal disorder
• Intra Uterine Growth Retardation (IUGR)
• Constitutional Delay of Growth and Pubeerty (CDGP)
• Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.
 PERAWAKAN PENDEK

KECEPATAN TUMBUH NORMAL?

YA TIDA
K

VARIAN NORMAL PATOLOGIS

PROPORSI ? DISMORFISM ?

BB/TB?
 PERAWAKAN PENDEK

PATOLOGIS

PROPORSIONAL
DISPROPORSIONAL

BB/TB  BB/TB 

KELAINAN
ENDOKRIN
•MALNUTRISI DISMORFIK
•DEFISIENSI GH
•INFEKSI KRONIS
•HIPOTROID
•PENYAKIT
•KORTISOL KRONIS
•PSEUDOHIPOPARA (ORGANIK)
TIROID •PSIKOSOSIAL
•IUGR
 PERAWAKAN PENDEK

PATOLOGIS

DISPROPORSIONAL KELAINAN DISMORFIK

•DISPLASIA TULANG •KELAINAN KROMOSOM

A/HIPO CHONDROPLASIA TRISOMI 21
•KELAINAN METABOLIK SINDROM TURNER
RICKETS
•SINDROM-SINDROM ( IUGR)
•GANGGUAN SPINAL
FETAL ALCOHOL, RUSSELL-
RADIASI KRANIOSPINAL SILVER, PRADER-WILLI,
SPONDYLODYSPLASIA NOONAN, SECKEL, de LANGE,
LARON, COCKAYNE dll
 PERAWAKAN PENDEK

VARIAN NORMAL

FAMILIAL SS CONSTITUTIONAL DELAY OF

GROWTH AND PUBERTY

USIA TULANG = USIA USIA TULANG < USIA

KRONOLOGIS KRONOLOGIS
TINGGI DEWASA < TINGGI DEWASA >
PERSENTIL-3 PERSENTIL-3
SESUAI POTENSI SESUAI POTENSI
GENETIK GENETIK
RIWAYAT KELUARGA (+)
Pola-pola pertumbuhan linier
Pola-pola pertumbuhan linier
Sindrom Turner (ST)
Tinggi dewasa 137-146.8 cm
Etiologi perawakan pendek
aksis longitudinal tubuh
gangguan tulang panjang lebih berat dari vertebra
(Lippe, 1993)
Rosenfeld et al (1994)
Pemberian dini terapi GH
Kombinasi GH + oxandrolone
Estrogen  induksi pubertas
Penatalaksanaan
• Familial short stature : tidak diterapi
• Constitutional delay of growth and puberty (CDGP):
tidak diterapi
• Tergantung kausal : nutrisi, infeksi, dll
• Hormonal : GH, tiroid, sex steroid
• Dysproporsional SS : achondroplasia, osteogenesis
imperfecta, sindr. Down, dll; tidak diterapi
Anak umur 5 tahun ,)
Tall Stature
Introduction
• Definition
Tall stature : height above 97th percentile for age,
sex and race.
• GH excess, occurs during childhood when open
epiphyseal growth plates allow for excessive linear
growth
• Cause
• Intrinsic
• Acquired
Growth cessation

• Puberty  sex steroid

(estrogen)   epiphyseal
fusion
• Bone age
• Girls 14 – 16 yrs
• Boys 18 – 20 yrs
• Sex steroid & growth
• Low dose: stimulate
• High dose: inhibit
 Short Stature History
Mother and fathers heights.
MPH = M(cm) + F (cm) 13 cm /2.
MPH range 8 cm.
FH short stature: males <165 cm
females <152 cm
FH delayed puberty: menarche >14 yrs in females and continued growth after
high school in males.
Look at other sibs child development records.
Child Development record
A valuable source of information.
Look at all available height and weight measurements and
growth trend.
Remember that Plunket height measurements are not precise
and may be misleading.
Check developmental milestones and illnesses.
Soal
• Data anak lelaki
• usia 7tahun 4 bulan : 110 cm; bone age 5 tahun
• usia 8 tahun : 114 cm; bone age; 6 tahun
• usia 9 tahun 6 bulan : 122 cm; bone age 7 tahun
• Tinggi ayah 172 cm, tinggi ibu 166 cm
• Ibu menarche 15 tahun
EVALUASI PERTUMBUHAN ANAK INI!
 Grow th Chart
195 Familial Short Stature
190

185

180

175

170

165

160

155

150

145

Height 140

(cm) 135

130

125

120

115

110

105

100

95

90

85

80
2 4 6 8 10 12 14 16 18

Age (years)
 Grow th Chart
195
Constitutional Delay of Growth & Puberty
190

185

180

175

170

165

160

155

150

145

Height 140

(cm) 135

130

125

120

115

110

105

100

95

90

85

80
2 4 6 8 10 12 14 16 18

Age (years)
 Normal Variant Short
Stature
FSS CDGD
Bone Age <1 yr from CA >1 yr from
CA
Puberty On time Delayed
Final Height Short Normal
 Pathological short stature
Proportionate: IUGR
syndromes
chronic illness
drugs
psychsocial deprivation
Disproportionate: Syndromes (partic Turner S)
hypothyroidism
Skeletal dysplasias
 IUGR/SGA
Intrauterine growth retardation or small for gestational age.
Very common.
Birth weight <10th PC for gestational age.
Catch-up growth above 3rd PC usually occurs by 6 mos of age but may
drag on to 2 yrs.
Short stature by 2 yrs usually associated with short final height.
As a group these children do not reach MPHs.
Approx 10% become short adults.
 Turner Syndrome
Consider in all girls with unexplained short stature or Ht below
MPH range.
Commonest feature is short for MPH (100%).
50% will only have short stature as clinical feature.
Present with short stature, poor HV or delayed puberty.
 Normal Growth
The ICP (infant/child/puberty) model of growth (Karlberg model)

Mathematically growth is characterised by 3 periods of growth

Infant - 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.
Intrinsic tall stature

 Familial genetic tall stature /

constitutional
 Cerebral gigantism (Soto’s syndrome)
 Marfan syndrome
 Homocystinuria
 Multiple endocrine neoplasia type 2b
Intrinsic 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
Acquired 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)
Evaluation – History & PE

• Family history (constitutional, Marfan, familial

precox etc)
• Developmental history
• Birth weight and length
• Stigmata of syndrome
• Pubertal status
Evaluation – Lab

• Growth pattern
• Parallel or not
• Potential genetic height
• Bone age (prediction of final height)
• As indicated
• Chromosome
• Mutation analysis
• Others (hormonal, imaging, cardiovascular, eye etc)
Marfan-arachnodactyly
Soto's syndrome
• rare genetic disorder with excessive physical
growth during the first 2 to 3 years of life.
• mild mental retardation, delayed motor, cognitive,
and social development, hypotonia (low muscle
tone), and speech impairments.
• large at birth, large heads (macrocrania)
• disportionately large and long head with a slightly
protrusive forehead, large hands and feet,
hypertelorism (an abnormally increased distance
between the eyes), and downslanting eyes.
Klinefelter syndrome
• Tall stature
• Chromosom : 47, XXY
• Tend to gynecomastia, Ca. mammae
• Micropenis, infertility
Therapy

• Causal
• Constitutional Tall stature
• reassurance
• Boys: testosterone 500mg/m2/month
• Girls: estradiol 0,1 mg/day
PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
Kreteria awal untuk pemeriksaan lebih lanjut :
1. Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-
rata untuk umur kronologisnya
2. Kecepatan tumbuh dibawah persentil ke 25 kurva
kecepatan tumbuh atau kurang dari 4 cm /tahun pada
anak berumur 4-10 bulan.
3. Prakiraan tinggi dewasa dibawah potensi tinggi
genetiknya.
4. Kecepatan tumbuh melambat setelah umur 3 tahun dan
turun menyilang garis persentilnya pada kurva
panjang/tinggi badan .
PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
ANAMNESIS
Riwayat perinatal, panjang / berat lahir, trauma lahir
Riwayar tumbuh kembang
Asupan nutrisi
Riwayat penyakit
Lingkungan psikosoaial
PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
PEMERIKSAAN FISIK
Stigmata sindrom dismorfik / kromosom
Tingkat kecerdasan
Tanda / gejala penyakit sistemik
Tanda KEP
Tingkat maturasi kelamin
Antropometri
 PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
PEMERIKSAAN PENUNJANG

 FT4, TSH
 LED, darah rutin (CBC)
 Elektrolit, BUN, creatinin, urinalisis, tinja
 Skrining TBC
 Umur tulang (bone age)
 Rujuk untuk pemeriksaan GH / IGF-1
ACHONDROPLASIA
 HIPOTIROID
DIDAPAT

HIPOTIROID
KONGENITAL
KESIMPULAN
Pertumbuhan menggambarkan keadaan kesehatan
seorang anak
Pemantauan pertumbuhan memerlukan
pengukuran teratur dengan alat yang tepat,
penting interpretasi hasil pemantauan
Perlu diingat bahwa gangguan pertumbuhan
lebih sering disebabkan oleh kelainan non-
endokrin