Short Stature and Tall StatureShort Stature and Tall Stature

Dr.HAKIMI,SpAKDr.HAKIMI,SpAKDr.HAKIMI,SpAKDr.HAKIMI,SpAK

Dr.MELDADr.MELDA DELIANA,SpAKDELIANA,SpAK

Dr.SISKADr.SISKA MAYASARI MAYASARI LUBIS,SpALUBIS,SpA

Dept. of child healthDept. of child health

Medical School, University of North SumatraMedical School, University of North Sumatra

GrowthGrowth

•• Normal growthNormal growth

–– InfantInfant

–– ChildhoodChildhood–– ChildhoodChildhood

–– PubertyPuberty

•• Growth : change in size & maturationGrowth : change in size & maturation

•• Stature : sizeStature : size

Cm/tahun

Growth Velocity Curve

InfantInfant ChildhoodChildhood PubertyPuberty

GHSex steroid

Growth rate by ageGrowth rate by age

11--6 mo6 mo : 18 : 18 -- 22 cm/yr22 cm/yr

66--12 mo12 mo : 14 : 14 –– 18 cm/yr18 cm/yr66--12 mo12 mo : 14 : 14 –– 18 cm/yr18 cm/yr

1 yr1 yr : 11 cm/yr: 11 cm/yr

2 yr2 yr : 8 cm/yr: 8 cm/yr

3 yr3 yr : 7 cm/yr: 7 cm/yr

4 4 –– pubertypuberty : 5 : 5 –– 6 cm/yr 6 cm/yr

Potensi Tinggi

CanalizationCatch-down

INFANT PERIOD

Growth Chart

cm

Catch-up

Potensi Tinggi Genetik

0 1 2 3 tahun

Evaluation of growth Evaluation of growth

•• AnthropometryAnthropometry

–– Standing & sitting : proportionalStanding & sitting : proportional

–– Arm spanArm span–– Arm spanArm span

•• Bone age : Bone age :

–– GP, TW, RUTGP, TW, RUT

–– Normal, delayed, advancedNormal, delayed, advanced

–– prediction of final heightprediction of final height

Growth chartGrowth chart

•• Growth curveGrowth curve

–– NCHS, Jumadias, HusainiNCHS, Jumadias, Husaini

•• Plotting growthPlotting growth•• Plotting growthPlotting growth

–– Normal, short, tallNormal, short, tall

•• Interpretation of plotInterpretation of plot

•• Potential genetic heightPotential genetic height

Growth Chart

145

150

155

160

165

170

175

180

185

190

195

Height

97

50

3

80

85

90

95

100

105

110

115

120

125

130

135

140

2 4 6 8 10 12 14 16 18

Age (years)

Height

(cm)

Growth Chart

145

150

155

160

165

170

175

180

185

190

195

Height

97

50

3

Tinggi Potensi Genetik

80

85

90

95

100

105

110

115

120

125

130

135

140

2 4 6 8 10 12 14 16 18

Age (years)

Height

(cm)

HACA

Bone ageBone age

•• Greulich & PyleGreulich & Pyle

–– Comparison of left wristComparison of left wrist

–– Prediction of FH after 6 yearsPrediction of FH after 6 years

–– Table Bayley & PinneauTable Bayley & Pinneau

•• Tanner Whitehouse IITanner Whitehouse II

–– Maturation of ossification centerMaturation of ossification center

–– More reliable : scoring systemMore reliable : scoring system

–– complicatedcomplicated

Usia tulangUsia tulang

•• Tangan kiri caraTangan kiri cara

–– Atlas Greulich Atlas Greulich -- PylePyle

–– TannerTanner--Whitehouse Whitehouse

IIIIIIII

–– RWTRWT

•• PusatPusat--pusat osifikasipusat osifikasi

•• Prediksi tinggi akhirPrediksi tinggi akhir

Short statureShort stature

•• Height < 2SDHeight < 2SD

•• Sex, age and raceSex, age and race

•• Pattern of growth more important Pattern of growth more important

rather than absolute position on rather than absolute position on

growth curvegrowth curve

Short statureShort stature

–– Variants of normalVariants of normal

–– Prenatal onsetPrenatal onset–– Prenatal onsetPrenatal onset

–– Post natal onsetPost natal onset

Variants of normal (normal growth velocity)Variants of normal (normal growth velocity)

•• Familial short statureFamilial short stature

–– Parents height genetically shortParents height genetically short

–– normal bone agenormal bone age

–– short adultshort adult–– short adultshort adult

•• Constitutional delay of growth & pubertyConstitutional delay of growth & puberty

–– Delayed puberty in the familyDelayed puberty in the family

–– Normal growth velocity Normal growth velocity

–– normal adult heightnormal adult height

Prenatal onsetPrenatal onset

•• Primary growth deficiencyPrimary growth deficiency

–– MalformationMalformation

–– syndromessyndromes–– syndromessyndromes

•• Secondary growth deficiencySecondary growth deficiency

–– Low maternal socioeconomicLow maternal socioeconomic

–– UndernutritionUndernutrition

–– Maternal disorder or diseaseMaternal disorder or disease

Post natal onsetPost natal onset

•• NutritionalNutritional

•• Deprivation syndromeDeprivation syndrome

•• Cardiac defectCardiac defect•• Cardiac defectCardiac defect

•• Respiratory insufficiencyRespiratory insufficiency

•• Renal disfunctionRenal disfunction

•• HormonalHormonal

•• Chronic infection, chronic diseaseChronic infection, chronic disease

EtiologyEtiology

•• Primary disturbances of growthPrimary disturbances of growth

–– Skeletal dysplasiasSkeletal dysplasias

–– Chromosomal abnormalitiesChromosomal abnormalities–– Chromosomal abnormalitiesChromosomal abnormalities

–– Metabolic causesMetabolic causes

–– IUGRIUGR

–– SyndromesSyndromes

–– GeneticGenetic

Etiology Etiology

•• Secondary growth disturbancesSecondary growth disturbances

–– UndernutritionUndernutrition

–– Disorder of the bowel, kidney, heart, lungDisorder of the bowel, kidney, heart, lung–– Disorder of the bowel, kidney, heart, lungDisorder of the bowel, kidney, heart, lung

–– Psychosocial deprivationPsychosocial deprivation

–– Chronic infection, drugsChronic infection, drugs

–– Endocrine disorderEndocrine disorder

–– Idiopathic growth delayIdiopathic growth delay

Diagnostic Approach to Short Diagnostic Approach to Short StatureStature

Short Stature

Abnormal

Normal

AbnormalConstitutional DelayNormal Variant

Proportional Dysproportional

ExtrauterineIntrauterine

Endocrinological causesEndocrinological causes

•• Normal variant : CDGPNormal variant : CDGP

•• GH DeficiencyGH Deficiency•• GH DeficiencyGH Deficiency

•• HypothyroidHypothyroid

•• Precocious PubertyPrecocious Puberty

•• Cushing’s syndromeCushing’s syndrome

•• PseudohypoparathyroidismPseudohypoparathyroidism

Treatment Treatment

•• Depend on the etiologyDepend on the etiology

–– NutritionNutrition

–– Organic diseaseOrganic disease–– Organic diseaseOrganic disease

•• CHD, IDDMCHD, IDDM

–– HormonalHormonal

•• GH, Thyroid, Sex hormoneGH, Thyroid, Sex hormone

–– MechanicalMechanical

•• Bone lengthening : achondroplasiaBone lengthening : achondroplasia

GH deficiencyGH deficiency

•• Short statureShort stature

•• ChubbyChubby

•• Abdominal adiposityAbdominal adiposity•• Abdominal adiposityAbdominal adiposity

•• MicropenisMicropenis

•• Single central incisorSingle central incisor

•• Frontal bossingFrontal bossing

•• ProportionalProportional

GH DeficiencyGH Deficiency

•• Low growth velocity : < 25%Low growth velocity : < 25%

•• Retarded bone ageRetarded bone age

•• GH level < 10 ng/dlGH level < 10 ng/dl•• GH level < 10 ng/dlGH level < 10 ng/dl

–– Screening tests : sleep & excerciseScreening tests : sleep & excercise

–– Stimulation testStimulation test

•• 2 tests : ITT & Arginine,2 tests : ITT & Arginine,

•• Low IGFLow IGF--11

Causes of GH DeficiencyCauses of GH Deficiency

•• CongenitalCongenital

–– IdiopathicIdiopathic

–– GeneticGenetic

–– Assosiated anatomic defect : SOD,midline defectAssosiated anatomic defect : SOD,midline defect–– Assosiated anatomic defect : SOD,midline defectAssosiated anatomic defect : SOD,midline defect

•• AcquiredAcquired

–– TraumaTrauma

–– NeoplasmaNeoplasma

–– Cranial irradiationCranial irradiation

–– etcetc

TreatmentTreatment

•• Varies: GH 14 Varies: GH 14 -- 21 IU/m2/day21 IU/m2/day

•• 6 times/week6 times/week

•• Monitoring:Monitoring:•• Monitoring:Monitoring:

–– Height, velocityHeight, velocity

–– Side effectSide effect

•• Terminate :Terminate :

–– No response < 2 cmNo response < 2 cm

–– Epiphyseal plate closure Epiphyseal plate closure

CDGPCDGP

•• Family historyFamily history

•• Growth velocity normalGrowth velocity normal

•• Bone age retardedBone age retarded•• Bone age retardedBone age retarded

•• Puberty : latePuberty : late

•• Adult height : normalAdult height : normal

•• Treatment : No NeedTreatment : No Need

Congenital hypothyroidismCongenital hypothyroidism

•• Large posterior fontanelleLarge posterior fontanelle

•• Respiratory difficultyRespiratory difficulty

•• HypothermiaHypothermia

•• Feeding difficultyFeeding difficulty•• Feeding difficultyFeeding difficulty

•• LethargyLethargy

•• Delay in passing meconiumDelay in passing meconium

•• Abdominal distentionAbdominal distention

•• Vomitting Vomitting

•• Prolonged jaundicedProlonged jaundiced

•• Oedema Oedema

Cushing’s SyndromeCushing’s Syndrome

•• Corticosteroid excessCorticosteroid excess

•• Growth retardation due toGrowth retardation due to–– Interferring protein anabolismInterferring protein anabolism

–– Impairing somatomedin productionImpairing somatomedin production–– Impairing somatomedin productionImpairing somatomedin production

•• HypertensionHypertension

•• Obesity predominant : trunk and neck, moon Obesity predominant : trunk and neck, moon faceface

•• Disturbances of glucose metabolismDisturbances of glucose metabolism

•• Purple striae, hirsutism, osteoporosis, Purple striae, hirsutism, osteoporosis, hypogonadismhypogonadism

•• Muscular weaknessMuscular weakness

PseudohypoparathyroidismPseudohypoparathyroidism

•• Short statureShort stature

•• Mental retardationMental retardation

•• Albright’s osteodystrophyAlbright’s osteodystrophy•• Albright’s osteodystrophyAlbright’s osteodystrophy

•• Round faciesRound facies

•• Ectopic calcification Ectopic calcification

Pola pertumbuhan Pola pertumbuhan

linierlinier

Pola pertumbuhanPola pertumbuhan

ConclusionConclusion

•• Short stature Short stature

–– Etiology : varies; endocrinology Etiology : varies; endocrinology

–– Treatable, depend on the etiologyTreatable, depend on the etiology–– Treatable, depend on the etiologyTreatable, depend on the etiology

–– Psychosocial problemPsychosocial problem

•• Growth monitoring : importantGrowth monitoring : important

•• Anthropometric measurementAnthropometric measurement

–– Clue to diagnosisClue to diagnosis

EtiologyEtiology

•• Primary disturbances of growthPrimary disturbances of growth

–– Skeletal dysplasiasSkeletal dysplasias

–– Chromosomal abnormalitiesChromosomal abnormalities–– Chromosomal abnormalitiesChromosomal abnormalities

–– Metabolic causesMetabolic causes

–– IUGRIUGR

–– SyndromesSyndromes

–– GeneticGenetic

Tall StatureTall Stature

•• Height > 2 SDHeight > 2 SD

•• Age, sex and raceAge, sex and race

Etiology Etiology

•• GeneticGenetic–– Familial tall statureFamilial tall stature

–– Familial rapid maturationFamilial rapid maturation

•• HormonalHormonal•• HormonalHormonal–– GH excessGH excess

–– HyperthyroidHyperthyroid

–– Androgen/estrogen excessAndrogen/estrogen excess

•• SyndromesSyndromes–– Weaver, Sotos, Marfan, KleinefelterWeaver, Sotos, Marfan, Kleinefelter

•• Metabolic disordersMetabolic disorders

Diagnostic approachesDiagnostic approaches

•• Height, velocityHeight, velocity

•• DysmorphismDysmorphism

•• Family historyFamily history•• Family historyFamily history

TreatmentTreatment

•• To treat or not to treatTo treat or not to treat

–– Family or patient requestFamily or patient request

–– Contra indicationContra indication

•• Psychosocial problemPsychosocial problem

•• Female > maleFemale > male

•• Ethynil estradiol 100 ug/dayEthynil estradiol 100 ug/day

•• Testosterone 200 Testosterone 200 -- 250 mg every 2 250 mg every 2 –– 3 3 weekweek

ConclusionConclusion

•• Short stature & tall stature Short stature & tall stature

–– Treatable, depend on the etiologyTreatable, depend on the etiology

–– Psychosocial problemPsychosocial problem–– Psychosocial problemPsychosocial problem

•• Growth monitoring : importantGrowth monitoring : important

•• Anthropometric measurementAnthropometric measurement

–– Clue to diagnosisClue to diagnosis