short stature and tall stature.ppt

Perawakan PendekPerawakan Pendek

Growth Growth

►Normal growthNormal growth InfantInfant ChildhoodChildhood PubertyPuberty

►Growth : change in size & maturationGrowth : change in size & maturation►Stature : sizeStature : size

InfantInfant ChildhoodChildhood PubertyPuberty

Cm/tahun

GHSex steroid

Growth Velocity Curve

Growth rate by ageGrowth rate by age

1-6 mo1-6 mo : 18 - 22 cm/yr: 18 - 22 cm/yr

6-12 mo6-12 mo : 14 – 18 cm/yr: 14 – 18 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 – puberty4 – puberty : 5 – 6 cm/yr : 5 – 6 cm/yr

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 Post natal onsetPost natal onset

Variants of normal (Variants of normal (normal normal

growth velocitygrowth velocity))►Familial short statureFamilial short stature Parents height genetically shortParents height genetically short normal bone agenormal bone age short adultshort adult

►Constitutional delay of growth & Constitutional delay of growth & pubertypuberty 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

►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►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 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 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

Constitutional DelayNormal Variant

Proportional Dysproportional

ExtrauterineIntrauterine

Endocrinological causesEndocrinological causes

►Normal variant : CDGPNormal variant : CDGP►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

►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►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

Screening tests : sleep & excerciseScreening tests : sleep & excercise Stimulation testStimulation test

►2 tests : ITT & Arginine,2 tests : ITT & Arginine,

►Low IGF-1Low IGF-1

Causes of GH DeficiencyCauses of GH Deficiency

► CongenitalCongenital IdiopathicIdiopathic GeneticGenetic Assosiated anatomic defect : SOD,midline defectAssosiated anatomic defect : SOD,midline defect

► AcquiredAcquired TraumaTrauma NeoplasmaNeoplasma Cranial irradiationCranial irradiation etcetc

TreatmentTreatment

►Varies: GH 14 - 21 IU/m2/dayVaries: GH 14 - 21 IU/m2/day►6 times/week6 times/week►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►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► 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

► HypertensionHypertension► Obesity predominant : trunk and neck, moon faceObesity predominant : trunk and neck, moon face► Disturbances of glucose metabolismDisturbances of glucose metabolism► Purple striae, hirsutism, osteoporosis, hypogonadismPurple striae, hirsutism, osteoporosis, hypogonadism► Muscular weaknessMuscular weakness

PseudohypoparathyroidismPseudohypoparathyroidism

►Short statureShort stature►Mental retardationMental retardation►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 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 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 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

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

weekweek

ConclusionConclusion

►Short stature & tall stature Short stature & tall stature 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