GANGGUAN PERTUMBUHAN PADA ANAK

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.

PERAWAKAN PENDEK KECEPATAN TUMBUH NORMAL? YA TIDAK VARIAN NORMAL PATOLOGIS PROPORSI ? DISMORFISM ? BB/TB?

PERAWAKAN PENDEK PATOLOGIS PROPORSIONAL DISPROPORSIONAL BB/TB  KELAINAN DISMORFIK ENDOKRIN DEFISIENSI GH HIPOTROID KORTISOL PSEUDOHIPOPARATIROID MALNUTRISI INFEKSI KRONIS PENYAKIT KRONIS (ORGANIK) PSIKOSOSIAL IUGR

PERAWAKAN PENDEK PATOLOGIS KELAINAN DISMORFIK DISPROPORSIONAL 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

CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY PERAWAKAN PENDEK VARIAN NORMAL CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY FAMILIAL SS 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 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.

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 Tinggi ayah 172 cm, tinggi ibu 166 cm 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!

Familial Short Stature

Constitutional Delay of Growth & Puberty

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 Bone age (prediction of final height) 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 : Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-rata untuk umur kronologisnya Kecepatan 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 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 KONGENITAL 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