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GANGGUAN PERTUMBUHAN PADA ANAK Gangguan pertumbuhan Perawakan normal Perawakan normal pertumbuhan terganggu pertumbuhan terganggu.

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Presentasi berjudul: "GANGGUAN PERTUMBUHAN PADA ANAK Gangguan pertumbuhan Perawakan normal Perawakan normal pertumbuhan terganggu pertumbuhan terganggu."— Transcript presentasi:

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2 GANGGUAN PERTUMBUHAN PADA ANAK

3 Gangguan pertumbuhan Perawakan normal Perawakan normal pertumbuhan terganggu pertumbuhan terganggu

4 Gangguan pertumbuhan Perawakan pendek Perawakan pendek pertumbuhan normal pertumbuhan normal

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

6 PERAWAKAN PENDEK YA PATOLOGIS KECEPATAN TUMBUH NORMAL? TIDA K VARIAN NORMAL PROPORSI ? DISMORFISM ? BB/TB?

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

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

9 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 (+)

10 Pola-pola pertumbuhan linier

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12 Sindrom Turner (ST) q Tinggi dewasa cm q Etiologi perawakan pendek m aksis longitudinal tubuh m gangguan tulang panjang lebih berat dari vertebra (Lippe, 1993) m Rosenfeld et al (1994) m Pemberian dini terapi GH m Kombinasi GH + oxandrolone m Estrogen  induksi pubertas

13 Penatalaksanaan Familial short stature : tidak diterapi Familial short stature : tidak diterapi Constitutional delay of growth and puberty (CDGP): tidak diterapi Constitutional delay of growth and puberty (CDGP): tidak diterapi Tergantung kausal : nutrisi, infeksi, dll Tergantung kausal : nutrisi, infeksi, dll Hormonal : GH, tiroid, sex steroid Hormonal : GH, tiroid, sex steroid Dysproporsional SS : achondroplasia, osteogenesis imperfecta, sindr. Down, dll; tidak diterapi Dysproporsional SS : achondroplasia, osteogenesis imperfecta, sindr. Down, dll; tidak diterapi

14 Anak umur 5 tahun,)

15 Tall Stature

16 Introduction Definition Tall stature : height above 97 th percentile for age, sex and race. Definition Tall stature : height above 97 th percentile for age, sex and race. GH excess, occurs during childhood when open epiphyseal growth plates allow for excessive linear growth GH excess, occurs during childhood when open epiphyseal growth plates allow for excessive linear growth Cause Cause Intrinsic Intrinsic Acquired Acquired

17 Growth cessation Puberty  sex steroid (estrogen)   epiphyseal fusion Puberty  sex steroid (estrogen)   epiphyseal fusion Bone age Bone age Girls 14 – 16 yrs Girls 14 – 16 yrs Boys 18 – 20 yrs Boys 18 – 20 yrs Sex steroid & growth Sex steroid & growth Low dose: stimulate Low dose: stimulate High dose: inhibit High dose: inhibit

18 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.

19 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. Remember that Plunket height measurements are not precise and may be misleading. Check developmental milestones and illnesses.

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21 Soal Data anak lelaki Data anak lelaki usia 7tahun 4 bulan : 110 cm; bone age 5 tahun usia 7tahun 4 bulan : 110 cm; bone age 5 tahun usia 8 tahun : 114 cm; bone age; 6 tahun usia 8 tahun : 114 cm; bone age; 6 tahun usia 9 tahun 6 bulan : 122 cm; bone age 7 tahun usia 9 tahun 6 bulan : 122 cm; bone age 7 tahun Tinggi ayah 172 cm, tinggi ibu 166 cm Tinggi ayah 172 cm, tinggi ibu 166 cm Ibu menarche 15 tahun EVALUASI PERTUMBUHAN ANAK INI! Ibu menarche 15 tahun EVALUASI PERTUMBUHAN ANAK INI!

22 Familial Short Stature

23 Constitutional Delay of Growth & Puberty

24 Normal Variant Short Stature FSSCDGD Bone Age 1 yr from CA PubertyOn timeDelayed Final HeightShort Normal

25 Pathological short stature Proportionate:IUGR syndromes chronic illness drugs psychsocial deprivation Disproportionate: Syndromes (partic Turner S) hypothyroidism Skeletal dysplasias

26 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.

27 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.

28 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.

29 Familial genetic tall stature / constitutional Cerebral gigantism (Soto’s syndrome) Marfan syndrome Homocystinuria Multiple endocrine neoplasia type 2b Intrinsic tall stature

30 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 Intrinsic tall stature

31 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) Acquired tall stature

32 Evaluation – History & PE Family history (constitutional, Marfan, familial precox etc) Family history (constitutional, Marfan, familial precox etc) Developmental history Developmental history Birth weight and length Birth weight and length Stigmata of syndrome Stigmata of syndrome Pubertal status Pubertal status

33 Evaluation – Lab Growth pattern Growth pattern Parallel or not Parallel or not Potential genetic height Potential genetic height Bone age (prediction of final height) Bone age (prediction of final height) As indicated As indicated Chromosome Chromosome Mutation analysis Mutation analysis Others (hormonal, imaging, cardiovascular, eye etc) Others (hormonal, imaging, cardiovascular, eye etc)

34 Marfan-arachnodactyly

35 Soto's syndrome rare genetic disorder with excessive physical growth during the first 2 to 3 years of life. 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. mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. large at birth, large heads (macrocrania) 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. 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.

36 Klinefelter syndrome Tall stature Tall stature Chromosom : 47, XXY Chromosom : 47, XXY Tend to gynecomastia, Ca. mammae Tend to gynecomastia, Ca. mammae Micropenis, infertility Micropenis, infertility

37 Therapy Causal Causal Constitutional Tall stature Constitutional Tall stature reassurance reassurance Boys: testosterone 500mg/m2/month Boys: testosterone 500mg/m2/month Girls: estradiol 0,1 mg/day Girls: estradiol 0,1 mg/day

38 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.

39 PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN ANAMNESIS Riwayat perinatal, panjang / berat lahir, trauma lahir Riwayar tumbuh kembang Asupan nutrisi Riwayat penyakit Lingkungan psikosoaial

40 PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN PEMERIKSAAN FISIK Stigmata sindrom dismorfik / kromosom Tingkat kecerdasan Tanda / gejala penyakit sistemik Tanda KEP Tingkat maturasi kelamin Antropometri

41 PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN 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-1 PEMERIKSAAN PENUNJANG

42 ACHONDROPLASIA

43 HIPOTIROID DIDAPAT HIPOTIROID KONGENITAL

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


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