USIA TULANG =U. KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI
POTENSI GENETIKUSIA TULANG < U. KRONOLOGISTINGGI DEWASA >
PERSENTIL-3SESUAI POTENSI GENETIKRIWAYAT 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 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
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Anak umur 5 tahun
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TALL STATURE
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 growthCauseIntrinsic Acquired
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.
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
male
Intrinsic tall stature
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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
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Evaluation History & PE
Family history (constitutional, Marfan, familial precox
etc)Developmental historyBirth weight and lengthStigmata of
syndromePubertal status
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Evaluation Lab
Growth patternParallel or notPotential genetic heightBone age
(prediction of final height)As indicatedChromosome Mutation
analysisOthers (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 statureChromosom : 47, XXYTend to gynecomastia, Ca.
mammaeMicropenis, infertility
