gds137 slide pemeriksaan laboratorium dan interprestasi pada growth retardation tiroid2
TRANSCRIPT
PEMERIKSAAN LABORATORIUMDAN INTERPRETASIDAN INTERPRETASI
PADA GROWTH RETARDATION
Prof. dr. Burhanuddin Nst. SpPK (K)
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Pendahuluan
Masa anak-anak adalah waktu untuk tumbuh, k k l k d lib tkmerupakan proses komplek dan melibatkan
interaksi banyak faktor.P t b h d l h bi t k iPertumbuhan adalah biasa untuk organisme multicellular dan terjadi dengan cara pembelahan sel dan pembesaran sel danpembelahan sel dan pembesaran sel dan organ differensiasi
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Perkembangan morfologi secara menyeluruh d k t b l h l ddan kecepatan pembelahan sel pada berbagai organ pada waktu yang berbeda dan outcome yang diperoleh ditentukan olehdan outcome yang diperoleh ditentukan oleh komposisi genetik dari seseorang dan berinteraksi dengan faktor-faktor eksternal, g ,termasuk nutrisi, psikososial dan faktor ekonomi
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Fase-fase pertumbuhan normal
Pertumbuhan terjadi pada kecepatan b b d b d lberbeda-beda selama masa :- Intra uterine- Masa awal dan pertengahan Childhood dan- Masa adolescenePertumbuhan pre-natal rata-rata 1,2-1,5 cm/minggu
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Midgestational length growth velocity dari 2,5 / i t j di 0 5 / icm/minggu turun menjadi 0,5 cm/minggu,
segera akan lahirK t t b h t t ± 15Kecepatan pertumbuhan rata-rata ± 15 cm/tahun, selama 2 tahun pertama kehidupan dan perlahan menjadi 6 cm/tahunkehidupan, dan perlahan menjadi 6 cm/tahun selama middlle childhood
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Growth Retardation (GR)
GR diklasifikasikan sbb:I. Primary Growth Abnormalities
A. OsteochondrodysplasiaB. Chromosomal abnormalitiesC. Intra Uterine Growth Retardation
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II. Secondary Growth DisordersA. MalnutritionB. Chronic DiseaseC. Endocrine Disorders
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Sambungan. . . . .
C. Endocrine Disorders1. Hypothyroidism2. Cushing’s Syndrome3. Pseudohypo Parathyroidism4. Rickets a vitamin D resistant rickets5. IGF deficiensy
a. GHD due to Hypothalamic dysfunction
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yp yb. GHD due to pituitary GH deficiency
Sambungan. . . . .
c. GH resistance1. Primary GH insensitivity2. Secondary GH insensitivity
d. Primary defects of IGF transport& clearancee. IGF Insensitivityy
1. Defect of the type I/GF receptor2. Post receptor defect
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pIII. Idiopathic Short Stature
Excess Growth and Tall Stature
Fetal IGF IIPost natal Excess GH secretionHyperthyroidismHyperthyroidismAdult androgen or estrogen deficiencyTesticular feminizationTesticular feminizationExcess GH
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Hypothyroidism
Hypothyroidism is the disease caused by i ffi i t d ti f th id h binsufficient production of thyroid hormone by the thyroid gland. C ti i i f f h th idi f dCretinism is a form of hypothyroidism found in infants.
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How To Diagnostic Hypothyroidism ?
To diagnose hypothyroidism, – TSH↑ FT4↓ Primary Hipothyroidism– TSH↑, FT4↓ Primary Hipothyroidism– TSH↓, FT4↓, FT3 N ↓ Secondary Hipothyroidism– TSH↓, FT4 N, FT3↓ Secondary Hipothyroidism
Suppression of thyrotropin-releasing hormon ( TRH )– Suppression of thyrotropin-releasing hormon ( TRH )( Tertiary Hipothyroidism )
If the TSH is normal and hypothyroidism is still suspected blood testing ;suspected. blood testing ;
– Free triiodothyronine (fT3)– Free levothyroxine (fT4)
Total T3
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– Total T3 – Total T4
The following measurements may be needed:
24 hour urine free T3 Antithyroid antibodies for evidence of autoimmuneAntithyroid antibodies — for evidence of autoimmune diseases that may be damaging the thyroid gland Serum cholesterol — which may be elevated in h h idihypothyroidism Prolactin — as a widely available test of pituitary function Testing for anemia, including ferritin Basal body temperature
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Hipotiroid (FF), Laboratorium- T3 menurun- T4 menurun- TSH normalHipertiroid :- T3 meningkat → T3 Tirotoksikosis- T4 meningkat → T4 Tirotoksikosis
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g
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Pendekatan untuk penderita Hypothyroidism (FF)Hypothyroidism (FF)
Sign/symtoms HypothyoridismYes
TSH LevelFT4 or FT4I
TSH FT4 or FT4I
TSH (N) or FT4 or FT4I
TSH (N)FT4(N) or FT4I(N)
TSH FT4(N) or FT4I(N)
PrimaryHypothyroidism
Consider CentralHypothyroidism
Consider otherCauses of patientsSubclinical
Hypothyroidism
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Hypothyroidism Hypothyroidism Sign & symtomsHypothyroidism
Sign & Symtoms Hypothyroidism
Weakness Weight gainWeaknessDry skinEdema Eye Lids
Weight gainLoss of hairAnorexiaEdema Eye Lids
Cold skinMemory ⇓
AnorexiaNervousnessSweating ⇓Memory ⇓
ConstipationSweating ⇓Parasthesia
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Hyperthyroidism
Hyperthyroidism is the term for overactive ti ithi th th id l d lti itissue within the thyroid gland, resulting in overproduction and thus an excess of circulating free thyroid hormones: thyroxinecirculating free thyroid hormones: thyroxine (T4), triiodothyronine (T3), or both
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How To Diagnostic Hyperthyroidism ?
TSH↓, FT4↑ Hiperthyroidism.E i i did i t k– Excessive iodide intake
– Overmedication chronic oral thyroxineGraves’ desease / toxic goiter– Graves desease / toxic goiter
TSH↓, FT4 normal, FT3↑ ThyrotoxicosisTSH↑, FT4 ↑ TSH secreting tumorTSH↑, FT4 ↑ TSH secreting tumoranti-TSH-receptor antibodies anti-thyroid-peroxidase
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y p
Pendekatan untuk penderita Hyperthyroidism
Sign/symtoms Hyperthyoridism
TSH LevelYes
TSH LevelFT4 or FT4I
TSH TSH TSH (N)TSHTSH FT4 or FT4I
TSH FT4 or FT4I
TSH (N)FT4(N) or FT4I(N)
TSH FT4(N) or FT4I(N)
Hyperthyroidism Consider TSH Consider otherT3yp y Consider TSHProducingAdenoma
Consider otherCauses of patientsSign & symtoms
T3
N
S b li i l
Diffuse goiter + bruitOpthalmopathy
Pretibial oedemaSubclinical
Hiperthyroid T3 Thyrotoxicosis
Yes No
Gvave P f
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GvaveDisease
PerformRadioactive
IodineUptake test
Sign & Symptoms Hyperthyroidism
NervousnessEmotional lability
DiarrheaProx Muscle weaknessEmotional lability
TremorPalpitations
Prox. Muscle weaknessHeart intoleranceMoist skinPalpitations
FatigueWeight loss
Moist skinFine hairHair loss
TachycardiaAtrial Fibrilasi
WeaknessIncrease appetite
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diastole BP
Cushing's syndrome
Cushing's syndrome (hyperadrenocorticism or hypercorticism) is a hormone (endocrine) disorderhypercorticism) is a hormone (endocrine) disorder caused by high levels of cortisol (hypercortisolism) in the blood. There are several possible causes of Cushing'sThere are several possible causes of Cushing's syndrome.
– Hormones that come from outside the body are called exogenous ( l ti id d )exogenous (glucocorticoid drugs )
– hormones that come from within the body are called endogenous. (tumors that produce cortisol or adrenocorticotropic hormone (ACTH). )
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hormone (ACTH). )
The paraventricular nucleus (PVN) of the h th l l ti t i l ihypothalamus releases corticotropin-releasing hormone (CRH) Pituitary gland to release adrenocorticotropin (ACTH) Adrenal glandadrenocorticotropin (ACTH) Adrenal gland (zona fasciculata ) (cortisol).Elevated levels of cortisol exert negativeElevated levels of cortisol exert negative feedback on the pituitary.
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Laboratory Diagnostic
Dexamethasone suppression test 24-hour urinary measurement for cortisol Cortisol in saliva over 24 hours
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Cushing Syndrome (CS)
CS results prolong Exposure to excessive p g pamounts of endogenous or exogenous corticosteroidsKadar Cortisol plasma lebih besar dari 7 ug/dl (200nmol/L) pada midnightOrgan normal :- Paling tinggi pagi hari, malam meningkat
27sedikit (2ug/dl)
Sambungan. . . . .
- False positif : Stress (vena puncture),Penyakit berulang-ulang, takut
Free Cortisol urin :- Metabolisme cortisol di urin :
17 hydrocorticosteroid atau17 exogenicsteroid
- Normal 80-120 ug/24 jam
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g j- Bisa normal 8-15% penderita
Dexamethazon Suppression Test
1 mg dexamethazon diberi tengah malamPada jam antara 08-09, bila response normal kadar plasma cortisol < 5 ug/dl
Cushing Syndromeg yACTH dependentACTH independent
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ACTH independent
Kadar ACTH antara 11.00-01.00 PM> 23 pg/dl → ACTH dependentPemeriksaan ACTH dgn ImunoradiometricKlinis : - Centripetal Obesity + Buffalo Hump
- Moonface- Hirsutism
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Cushing’s Syndrome
Sign & Symtoms Present
Perform Screening test for CSSyndrome Perform Screening test for CS24 hours urin collection for
Cortisol or Over night 1 mg DST
24 hours urin Cortisol Perform over night 1 mg DST
Cortisol > 5 ug/dlCortisol (N) Cortisol ↑ Cortisol ↑ > 3 5X Cortisol > 5 ug/dl
Cushing’s Syndromel
Cortisol (N) Cortisol ↑But not > 3.5X
Upper limit normalConsider
Alternative
Cortisol ↑ > 3.5XUpper limit normal
Futher evaluation Cushing’s
Plasma ACTH
Alternativediagnosis
Futher evaluationTo differentiateCushing’s frompseudocushing
Cushing sSyndrome
>10-15 pg/dl⇓A
Perform one of the following:-Dexamethazon-CHR test-Midnight serum cortisolLate night salivary cortisol
A
< 5 pg/dl, considerAdrenal causes of CS
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-Late night salivary cortisol
Results consistentwith Cushing’s
Results consistent withpseudocushing’sStop
Perform CT / MRIAdrenal Gland
A. Plasma ACTH
Plasma ACTHPlasma ACTH
> 10-15 pg/dl
Perform High Dose DST(8 mg Dexamethazon)
Ectopic ACTHC hi ’
Suppression (+) Suppression (-)
Ectopic ACTHScreening
tumor
Cushing’sDisease
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Sign & Symtoms CS
Central Obesity AcneyProximal Muscle Weakness(hips,shoulders)
HyperpigmentasionHirsutism(male-pattern hair
Hypertensionbuffalo hump moon face
growth in a female) HyperglicemiaHypokalmic metabolikmoon face Hypokalmic metabolik Acidosis
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Pseudo hypoparathyroid
Hipercalcemic LaboratoriumHiperphosphatemicKlinis :
Laboratorium
- Short stature- Rounded face Albright’s- Obesitas- Subcutan Calcification
gHereditary
Osteodystrophy(AHO)
34- Shortened fourth metacarpal (AHO)
Rickets
Gangguan mineralisasi dari organik matrikGangguan mineralisasi dari organik matrik tulangAnak-anak gangguan terjadi pada :a a a ga ggua te jad pada- Growth plate- Mineralisasi kartilago → terjadi deformitasMineralisasi kartilago → terjadi deformitas
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Vitamin D is required for proper calcium b ti f th t I th b fabsorption from the gut. In the absence of
vitamin D, dietary calcium is not properly absorbed resulting in hypocalcemia leadingabsorbed, resulting in hypocalcemia, leading to skeletal and dental deformities and neuromuscular
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Laboratorium (Rickets)
Infants dengan Vit. D Deficiencyg ySerum Calcium selalu rendahSerum Phosphat batas normalSerum Phosphat batas normalserum alkaline phosphatase meningkat
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Di d f th Pit it &Disorder of the Pituitary & Hypothalamus
Anterior Pituitary mensintesa :- Growth Hormon- Prolactin- TSH- FSH- LH
Hypothalamus mensekresi tropik hormon
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Hypothalamus mensekresi tropik hormon untuk masing-masing
Pituitary hormon excess
ProlactinomaProlactinomaCushing;s SyndromeAcromegaly and GigantismAcromegaly and GigantismTSH Secreting Adenoma
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Pituitary hormon deficiency
HypoadrenalismHypothyrodismHypothyrodismHypogonadismSomatomedin deficiency (IGF Deficiency)Somatomedin deficiency (IGF Deficiency)
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L b t t t f di i fLaboratory tests for diagnosis of disorders of pituitary and hypothalamus
Growth Hormon (GH)Dih ilk & di k i l h it it t tDihasilkan & disekresi oleh pituitary somatotropecells sebagai respons terhadap GHRH hypotha-llamus Effek kerja dimediasi melalui Insulin Like GrowthFaktor (IGF)Faktor (IGF)Kegunaan : - Differential diagnosis :
Short Stature Slow Growth
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Short Stature, Slow Growth- Evaluasi Pituitary Function
Insulin-like growth factor
Regulation of growth and development in lmammals.
Stimulation of cellular proliferation and th IGF I h i t t ff tgrowth, IGF-I has important effects on
carbohydrate, protein and bone metabolism
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Meningkat
Acromegaly, karena adenoma pituitary tertentuLaron dwarfism (kekurangan GH receptor)GH resistanceRenal FailureUncontrol DMObat-obatan : Estrogen, Kontrasepsi oralStravation
442 jam sesudah tidur
Menurun
Gangguan pada hypothalamus (tumor, i f k i h k t i )infeksi, hemokromatosis)Hypopituitarism (tumor, infeksi, granuloma,
di i)radiasi)DwarfismC ti t id thCorticosteroid therapyObesity
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