GANGGUAN PERTUMBUHAN PADA ANAK

Gangguan pertumbuhanPerawakan normalpertumbuhan terganggu

97

50

3

Gangguan pertumbuhanPerawakan pendekpertumbuhan normal

97

50

3

ETIOLOGI PERAWAKAN PENDEK

Perawakan pendek dapat disebabkan oleh kelainan endokrin ataupun non endokrin sepertiGenetik atau familialKelainan kromosom atau sindrom tertentuPenyakit kronisGangguan giziDeprivasi psikososialSkeletal disorderIntra Uterine Growth Retardation (IUGR)Constitutional Delay of Growth and Pubeerty (CDGP)Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.

PERAWAKAN PENDEKYAPATOLOGISKECEPATAN TUMBUH NORMAL?TIDAKVARIAN NORMALPROPORSI ?DISMORFISM ?BB/TB?

PERAWAKAN PENDEKPATOLOGISPROPORSIONALBB/TB ENDOKRINDEFISIENSI GHHIPOTROIDKORTISOLPSEUDOHIPOPARATIROIDBB/TB MALNUTRISIINFEKSI KRONISPENYAKIT KRONIS (ORGANIK)PSIKOSOSIALIUGRKELAINAN DISMORFIKDISPROPORSIONAL

PERAWAKAN PENDEKPATOLOGISKELAINAN DISMORFIKDISPROPORSIONALDISPLASIA TULANGA/HIPO CHONDROPLASIAKELAINAN METABOLIKRICKETSGANGGUAN SPINALRADIASI KRANIOSPINALSPONDYLODYSPLASIAKELAINAN KROMOSOMTRISOMI 21SINDROM TURNERSINDROM-SINDROM ( IUGR)FETAL ALCOHOL, RUSSELL-SILVER, PRADER-WILLI, NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll

PERAWAKAN PENDEKVARIAN NORMALFAMILIAL SSCONSTITUTIONAL DELAY OF GROWTH AND PUBERTYUSIA TULANG = USIA KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI POTENSI GENETIK

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

Pola-pola pertumbuhan linier

Pola-pola pertumbuhan linier

Sindrom Turner (ST)Tinggi dewasa 137-146.8 cmEtiologi perawakan pendekaksis longitudinal tubuh gangguan tulang panjang lebih berat dari vertebra(Lippe, 1993)Rosenfeld et al (1994)Pemberian dini terapi GHKombinasi GH + oxandroloneEstrogen induksi pubertas

PenatalaksanaanFamilial short stature : tidak diterapiConstitutional delay of growth and puberty (CDGP): tidak diterapiTergantung kausal : nutrisi, infeksi, dllHormonal : GH, tiroid, sex steroidDysproporsional SS : achondroplasia, osteogenesis imperfecta, sindr. Down, dll; tidak diterapi

Anak umur 5 tahun ,)

Tall Stature

IntroductionDefinition 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 growthCauseIntrinsic Acquired

Growth cessationPuberty sex steroid (estrogen) epiphyseal fusionBone ageGirls 14 16 yrsBoys 18 20 yrsSex steroid & growthLow dose: stimulateHigh dose: inhibit

Short Stature HistoryMother and fathers heights.MPH = M(cm) + F (cm) 13 cm /2.MPH range 8 cm.FH short stature: males

Child Development recordA 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.

SoalData anak lelaki usia 7tahun 4 bulan : 110 cm; bone age 5 tahunusia 8 tahun : 114 cm; bone age; 6 tahunusia 9 tahun 6 bulan : 122 cm; bone age 7 tahunTinggi ayah 172 cm, tinggi ibu 166 cmIbu menarche 15 tahun EVALUASI PERTUMBUHAN ANAK INI!

Familial Short Stature

Constitutional Delay of Growth & Puberty

Normal Variant Short StatureFSSCDGDBone Age1 yr from CAPubertyOn timeDelayedFinal HeightShort Normal

Pathological short statureProportionate:IUGRsyndromeschronic illnessdrugspsychsocial deprivationDisproportionate: Syndromes (partic Turner S)hypothyroidismSkeletal dysplasias

IUGR/SGAIntrauterine growth retardation or small for gestational age.Very common.Birth weight

Turner SyndromeConsider 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 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 (Sotos syndrome) Marfan syndrome Homocystinuria Multiple endocrine neoplasia type 2bIntrinsic tall stature

Chromosome 47, XYY; Klinefelter syndrome (46, XXY); Fragile X syndromeBeckwith-Wiedemann syndrome (IGF2)Weaver syndromeSimpson-Golabi-Behmel syndrome (GPC3)Bannayan-Riley-Ruvalcaba syndrome (PTEN)Deficiency of aromatase/loss of function mutations of estrogen receptor (a) in maleIntrinsic tall stature

Infant of diabetic mother (hyperinsulinism)Obesity (tall child normal adult height)Sexual precocity (tall child but short adult)Primary hypogonadism (eunuchoid)HyperthyroidismGrowth hormone excess (Gigantism, acromegaly)Acquired tall stature

Evaluation History & PEFamily history (constitutional, Marfan, familial precox etc)Developmental historyBirth weight and lengthStigmata of syndromePubertal status

Evaluation LabGrowth patternParallel or notPotential genetic heightBone age (prediction of final height)As indicatedChromosome Mutation analysisOthers (hormonal, imaging, cardiovascular, eye etc)

Marfan-arachnodactyly

Soto's syndromerare 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 syndromeTall statureChromosom : 47, XXYTend to gynecomastia, Ca. mammaeMicropenis, infertility

TherapyCausalConstitutional Tall staturereassuranceBoys: testosterone 500mg/m2/monthGirls: estradiol 0,1 mg/day

PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANKreteria awal untuk pemeriksaan lebih lanjut :Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-rata untuk umur kronologisnyaKecepatan tumbuh dibawah persentil ke 25 kurva kecepatan tumbuh atau kurang dari 4 cm /tahun pada anak berumur 4-10 bulan.Prakiraan tinggi dewasa dibawah potensi tinggi genetiknya.Kecepatan tumbuh melambat setelah umur 3 tahun dan turun menyilang garis persentilnya pada kurva panjang/tinggi badan .

PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANANAMNESISRiwayat perinatal, panjang / berat lahir, trauma lahirRiwayar tumbuh kembangAsupan nutrisiRiwayat penyakitLingkungan psikosoaial

PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPEMERIKSAAN FISIKStigmata sindrom dismorfik / kromosomTingkat kecerdasanTanda / gejala penyakit sistemikTanda KEPTingkat maturasi kelaminAntropometri

PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN FT4, TSH LED, darah rutin (CBC) Elektrolit, BUN, creatinin, urinalisis, tinja Skrining TBC Umur tulang (bone age) Rujuk untuk pemeriksaan GH / IGF-1PEMERIKSAAN PENUNJANG

ACHONDROPLASIA

HIPOTIROID DIDAPATHIPOTIROID KONGENITAL

KESIMPULANPertumbuhan menggambarkan keadaan kesehatan seorang anakPemantauan pertumbuhan memerlukan pengukuran teratur dengan alat yang tepat, penting interpretasi hasil pemantauanPerlu diingat bahwa gangguan pertumbuhan lebih sering disebabkan oleh kelainan non-endokrin

*Slide 15. Height Velocity This is the growth velocity curve that we use in our clinic where growth rates are not normal or not consistent during childhood. Year after year, children are normally growing slower than they did the year before. This green line, which is the constitutional growth delayed child, is exaggerated, and you can see a more pronounced prepubertal growth deceleration with attainment of final height, which is close to normal at the end.