兒科學(xué)-生長激素缺乏癥(英文)

Growthhormonedeficiency(pituitarydwarfism)

12023/3/19Growthhormonedeficiency(GHD)occurswhenanteriorpituitary

synthesizeandsecretegrowthhormoneinsufficient,leadtodisordersofgrowthanddevelopmentandheight/lengtharelessthan3rd

percentileor2SDbelowthemeannormalrange.Incidence:2/10000~2.5/10000

Outline22023/3/19humanGHisaproteinwith191aminoacides,singlechain,molecularweight:22KD32023/3/19Basicfunction:GHpromotes

anabolicmetabolism:

Promoting

proteinsynthesis,stimulatinghepaticglycogen

decomposeand

lipoclasis

↓muscles,tissue,organcellsproliferation↓childengrowthanddevelopmentPhysiologicfunctionofGH

42023/3/19PhysiologicfunctionSpecialfunction：

GHpromotesskeletongrowing:

Promoteepiphysealcartilagecellsproliferatingandbonymatrixdeposition↓epiphysealplatethickening↓bonelongitudinalgrowing,heightincreasing52023/3/19Insulin-likegrowthfactor-1IGF-1GHIHHypothalamus-Pituitary－GHAxisHypothalamus62023/3/19（+）promotion（一）inhibition

negativefeedbackpositivefeedbackRegulationofgrowthhormonesecretionHypothalamus

Pituitary

Livergrowthhormonegrowthhormoneinhibitinghormone（－）(GHIH）growthhormonereleasinghormone

（GHRH）(+）（一）（一）IGF1（+）72023/3/19Pulsesecretion

Circadian

Low

frequencyandamplitudesecretionindaytime,reachingthepeakinsleepⅢorⅣstageGHSecretion82023/3/19sleep,exercise,starvationincreasetheGHsecretiondrugsstimulatetheGHsecretioncommondrugsusedinclinicincluding:insuline,L-dopa左旋多巴,arginin精氨酸,clonidine可樂定GHSecretion92023/3/191.Idiopathichypopituitarism:majorcause

Possiblemechanism:

AbnormalityofNeurotransmitter-neurohormonepathway

dopamine,5-HT(hydroxytryptamine),monamine,acetylcholine(乙烯膽堿）↓↓

hypothalamussecreteGHRH↓

↓

anteriorpituitarysecreteGH↓Etiology102023/3/192.SecondaryhypopituitarismCraniocerebraltumor,infection,trauma,brainradiationinjury3.Hereditary

pituitarymaldevelopment

rare,5%,familialGH1genedefect

4.Othercauses

－temporalitygrowthretardation:

thymo-denudationdwarfism情感剝脫性矮小

-GHreceptordeficiency:laronSyndrome

-

IGF-1receptordeficiency:African

PygmypeopleEtiology112023/3/19Frequencyofpathopoiesis

Etiologicstatisticsin325GHDpatientsIdiopathic:254cases78％Secondary:62cases19％Hereditary:9cases3％122023/3/19GrowthretardationUnusualfaciesNormalintelligence

DelayedpubertyClinicalmanifestations132023/3/19Growthretardation

shortstaturegrowthvelocity<5cmperyearnormalupper/lowersegmental142023/3/19Unusualfacies

childishlookingroundfacesmoothskinsubcutaneousfataccumulation152023/3/19Normalintelligence

intelligenceage=actualageDelayedpuberty

pubertydelayedafter16yearsoldClinicalmanifestations162023/3/191.SerumGHdetermination

Screeningtest:

sleeptest<3-yr-oldexercisetest>3-yr-old

results:

GH>10ug/LexcludeGHGH<10ug/LfurtherformaltestLaboratoryfindings172023/3/19DrugprovocativetestDrugprovocatingtestsInsulinIV30-60decreasingGHIHArginineIV60-120inhibitingGHIHL-DopaPO40-120increasingGHRHClonidinePO60-120increasingGHRHScreeningtestsExerciseintenseexercise20－40minstimulateGHsecretion15-20minpost-exercisebyneuromechanismSleepdeepsleep60-90minpost-sleepGHRHandGHIHneuronIII~IVsleepstagesecretionalternatelyTestTestmethodPeaktime(min)Possible

mechanismNotice:Toavoidfalsepositiveorfalsenegative,atleasttwotestsareneededfordiagnosis182023/3/19Provocativetest(確診試驗(yàn)）Result

twoormoredrugsprovocativetest◆peaklevelofGHlessthan5ug/L:

completeGHdeficiency◆

peaklevelofGHaround5-10ug/L:

partialGHdeficiency◆

peaklevel

ofGHoverthan10ug/L:

excludingGHdeficiency192023/3/192.Boneage(BA)

BAdelayedmorethan2years3.Othertest

SerumlevelofIGF1:LowerHeadCT,MRI:excludeintracranialtumor,encephalodysplasia(腦發(fā)育異常)

Laboratoryfindings202023/3/19DiagnosticcriteriaShortstature:heightbelow2SDor3rd

percentileGrowthvelocitylessthan5cm/yrNormalintelligenceBAdelayedmorethan2yearTwodrugsprovocativetest,post-stimulusserumGHvalueslessthan10ug/LDiagnosis212023/3/19Constitutionaldelayedpubertyandgrowth(體質(zhì)青春期發(fā)育延遲）Familialshortstature(家族性矮?。㊣diopathicshortstature(特發(fā)性矮?。㏕urner’ssyndrome（先天性卵巢發(fā)育不全）Differentialdiagnosis222023/3/19Constitutionaldelayedpubertyandgrowthboysmorethangirls;heightnearthe3rdpercentile,growthvelocity>5cm/yr;Boneagedelayed1-2year;delayedpuberty,parentsoftenhavethesamehistory;Eventuallyheightwillreachnormalrange.Differentialdiagnosis232023/3/19

Familialshortstature

parentsareshortstature，

heightnearthe3rdpercentilegrowthvelocity>5cm/yrnormalintelligenceandsexdevelopmentnormalboneageGHlevelisnormalDifferentialdiagnosis242023/3/19

IdiopathicshortstatureNormalweightandlengthatbirthGrowthvelocityislessthan5cm/yrTwodrugsprovocativetest,post-stimulusserumGHvaluesoverthan10ug/LNormalboneageoramilddelayNochronicalorganicdiseasesandnormalskeletaldevelopmentDifferentialdiagnosis252023/3/19Turner’ssyndrome－Shortstature,normalbodyratio,－nopubertydevelopment－lowhairline,shortneck,wingneck（頸璞）

shieldchest,widenbreastdistance,cubitusvalgus(肘外翻）Differentialdiagnosis262023/3/19Turner’ssyndrome－normalintelligenceormildmentalimpairment－normalboneageormilddelay－sonographyofcavitaspelvis:striputerus

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