GANGGUAN PERTUMBUHAN PADA ANAK

Gangguan pertumbuhan
G ro w th C h a rt
195 190 185 180 175 170 165 160 155 150 145

97

50 3

Perawakan normal pertumbuhan terganggu

H e ig h t (c m )

140 135 130 125 120 115 110 105 100 95 90 85 80 2 4 6 8 10 12 14 16 18

A g e (y e a rs )

Gangguan pertumbuhan
G ro w th C h a rt
195 190 185 180 175 170 165 160 155 150 145

97

Perawakan pendek pertumbuhan normal

50 3

H e ig h t (c m )

140 135 130 125 120 115 110 105 100 95 90 85 80 2 4 6 8 10 12 14 16 18

A g e (y e a rs )

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 VARIAN NORMAL TIDA K

PATOLOGIS

PROPORSI ?

DISMORFISM ?

BB/TB?

PERAWAKAN PENDEK
PATOLOGIS
PROPORSIONAL DISPROPORSIONAL BB/TB ENDOKRIN
DEFISIENSI GH

BB/TB KELAINAN DISMORFIK

MALNUTRISI INFEKSI KRONIS PENYAKIT KRONIS (ORGANIK) PSIKOSOSIAL IUGR

HIPOTROID
KORTISOL PSEUDOHIPOPARA TIROID

PERAWAKAN PENDEK

PATOLOGIS

DISPROPORSIONAL

KELAINAN DISMORFIK

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

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

PERAWAKAN PENDEK

VARIAN NORMAL

FAMILIAL SS

CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY

USIA TULANG = USIA KRONOLOGIS TINGGI DEWASA < PERSENTIL-3 SESUAI POTENSI GENETIK

USIA TULANG < USIA KRONOLOGIS TINGGI DEWASA > PERSENTIL-3 SESUAI POTENSI 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

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
195 190 185 180 175 170 165 160 155 150 145

Familial Short Stature

Height (cm)

140 135 130 125 120 115 110 105 100 95 90 85 80 2 4 6 8 10 12 14 16 18

Age (years)

Grow th Chart
195 190 185 180 175 170 165 160 155 150 145

Constitutional Delay of Growth & Puberty

Height (cm)

140 135 130 125 120 115 110 105 100 95 90 85 80 2 4 6 8 10 12 14 16 18

Age (years)

Normal Variant Short Stature

Bone Age FSS CDGD <1 yr from CA >1 yr from CA On time Delayed Short Normal

Puberty Final Height

Pathological short stature

Proportionate: IUGR syndromes chronic illness drugs psychsocial deprivation Disproportionate: Syndromes (partic Turner S) hypothyroidism

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

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 (Sotos syndrome)

Marfan syndrome

Homocystinuria
Multiple endocrine neoplasia type 2b

Intrinsic tall stature

Chromosome

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

Beckwith-Wiedemann Weaver

syndrome (IGF2)

syndrome syndrome (GPC3)

Simpson-Golabi-Behmel

Bannayan-Riley-Ruvalcaba Deficiency

syndrome (PTEN)

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

Acquired tall stature

Infant

of diabetic mother (hyperinsulinism)

Obesity
Sexual

(tall child normal adult height)

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 ratarata 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