GANGGUAN PERTUMBUHAN PADA ANAK

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GANGGUAN PERTUMBUHAN PADA ANAK
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Gangguan pertumbuhan

• Perawakan normal
• pertumbuhan terganggu

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Gangguan pertumbuhan

• Perawakan pendek
• pertumbuhan normal

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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 PENDEK
KECEPATAN TUMBUH NORMAL?
YA
TIDAK
VARIAN NORMAL
PATOLOGIS
PROPORSI ?
DISMORFISM ?
BB/TB?
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PERAWAKAN PENDEK
PATOLOGIS
PROPORSIONAL
DISPROPORSIONAL
BB/TB ?
BB/TB ?
KELAINAN DISMORFIK

• ENDOKRIN
• DEFISIENSI GH
• HIPOTROID
• KORTISOL
• PSEUDOHIPOPARATIROID

• MALNUTRISI
• INFEKSI KRONIS
• PENYAKIT KRONIS (ORGANIK)
• PSIKOSOSIAL
• IUGR

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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

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

• USIA TULANG USIA KRONOLOGIS
• TINGGI DEWASA lt PERSENTIL-3
• SESUAI POTENSI GENETIK

• USIA TULANG lt USIA KRONOLOGIS
• TINGGI DEWASA gt PERSENTIL-3
• SESUAI POTENSI GENETIK
• RIWAYAT KELUARGA ()

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Pola-pola pertumbuhan linier
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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
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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

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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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Short Stature History

• Mother and fathers heights.
• MPH M(cm) F (cm) ?13 cm /2.
• MPH range ?8 cm.
• FH short stature males lt165 cm
• females lt152 cm
• FH delayed puberty menarche gt14 yrs in females
  and continued growth after high school in males.
• Look at other sibs child development records.

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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.

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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 tahunEVALUASI PERTUMBUHAN ANAK
  INI!

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Familial Short Stature
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Constitutional Delay of Growth Puberty
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Normal Variant Short Stature

• FSS CDGD
• Bone Age lt1 yr from CA gt1 yr from CA
• Puberty On time Delayed
• Final Height Short Normal

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Pathological short stature

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

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IUGR/SGA

• Intrauterine growth retardation or small for
  gestational age.
• Very common.
• Birth weight lt10th 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.

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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.

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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.

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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 male

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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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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 .

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PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN

• ANAMNESIS
• Riwayat perinatal, panjang / berat lahir, trauma
  lahir
• Riwayar tumbuh kembang
• Asupan nutrisi
• Riwayat penyakit
• Lingkungan psikosoaial

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PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN

• PEMERIKSAAN FISIK
• Stigmata sindrom dismorfik / kromosom
• Tingkat kecerdasan
• Tanda / gejala penyakit sistemik
• Tanda KEP
• Tingkat maturasi kelamin
• Antropometri

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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

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ACHONDROPLASIA
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HIPOTIROID DIDAPAT
HIPOTIROID KONGENITAL
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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