GANGGUAN

PERTUMBUHAN
PADA ANAK
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Gangguan pertumbuhan
Perawakan
normal
pertumbuhan
terganggu

Gangguan pertumbuhan
Perawakan pendek
pertumbuhan
normal

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.
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PERAWAKAN
PERAWAKAN PENDEK
PENDEK
KECEPATAN TUMBUH NORMAL?
YA
YA

TIDAK
TIDAK

VARIAN
VARIAN NORMAL
NORMAL

PATOLOGIS
PATOLOGIS

PROPORSI
PROPORSI ??
DISMORFISM
DISMORFISM ??
BB/TB?
BB/TB?
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PERAWAKAN PENDEK
PATOLOGIS
PROPORSIONAL
DISPROPORSIONAL
BB/TB

ENDOKRIN
DEFISIENSI GH
HIPOTROID
KORTISOL
PSEUDOHIPOPARATIROID

BB/TB

MALNUTRISI

KELAINAN
DISMORFIK

INFEKSI KRONIS
PENYAKIT KRONIS
(ORGANIK)
PSIKOSOSIAL
IUGR

PERAWAKAN PENDEK
PATOLOGIS

DISPROPORSIONAL

DISPLASIA TULANG
A/HIPO CHONDROPLASIA
KELAINAN METABOLIK
RICKETS
GANGGUAN SPINAL
RADIASI KRANIOSPINAL
SPONDYLODYSPLASIA

KELAINAN DISMORFIK

KELAINAN KROMOSOM
TRISOMI 21
SINDROM TURNER
SINDROM-SINDROM (
IUGR)
FETAL ALCOHOL, RUSSELLSILVER, PRADER-WILLI,
NOONAN, SECKEL, de
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LANGE, LARON, COCKAYNE

PERAWAKAN PENDEK

VARIAN NORMAL

FAMILIAL SS

CONSTITUTIONAL DELAY OF
GROWTH AND PUBERTY

USIA TULANG =U. KRONOLOGIS

TINGGI DEWASA < PERSENTIL-3
SESUAI POTENSI GENETIK

USIA TULANG < U. KRONOLOGIS

TINGGI DEWASA > PERSENTIL-3
SESUAI POTENSI GENETIK
RIWAYAT KELUARGA (+)

Pola-pola pertumbuhan linier

Pola-pola pertumbuhan linier

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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
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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
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Anak umur 5 tahun

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TALL STATURE
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
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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
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Intrinsic tall stature

Familial genetic tall
stature/constitutional

Cerebral gigantism (Sotos syndrome)

Marfan syndrome

Homocystinuria

Multiple endocrine neoplasia type 2b

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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 male17

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)

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Evaluation History & PE

Family history (constitutional,
Marfan, familial precox etc)
Developmental history
Birth weight and length
Stigmata of syndrome
Pubertal status
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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)
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Marfan-arachnodactyly

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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.
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Klinefelter syndrome
Tall stature
Chromosom : 47, XXY
Tend to gynecomastia, Ca.
mammae
Micropenis, infertility
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Therapy
Causal
Constitutional Tall stature
reassurance
Boys: testosterone
500mg/m2/month
Girls: estradiol 0,1 mg/day
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