P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 MANUAL OF ENDOCRINOLOGY AND METABOLISM FourthEdition i P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 ii P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 MANUAL OF ENDOCRINOLOGY AND METABOLISM Fourth Edition Editor Norman Lavin, M.D., Ph.D., F.A.A.P., F.A.C.E. ClinicalProfessorofEndocrinologyandPediatrics DirectorofClinicalEducationinEndocrinology UCLASchoolofMedicine LosAngeles,California Editor-in-Chief:Growth,GrowthHormone,IGF-1, andMetabolism London,England DirectoroftheDiabetesCareCenter DirectorofMedicalEducation ProvidenceTarzanaRegionalMedicalCenter Tarzana,California iii P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 Publisher:CharlesW.Mitchell ManagingEditor:SirkkaE.Howes SeniorMarketingManager:AngelaPanetta AssociateProductionManager:KevinP.Johnson Designer:TeresaMallon Compositor:Aptara,Inc. Copyright(cid:2)c 2009LippincottWilliams&Wilkins,aWoltersKluwerbusiness. 351WestCamdenStreet 530WalnutStreet Baltimore,MD21201 Philadelphia,PA19106 PrintedinChina Allrightsreserved.Thisbookisprotectedbycopyright.Nopartofthisbookmaybe reproducedortransmittedinanyformorbyanymeans,includingasphotocopiesor scanned-inorotherelectroniccopies,orutilizedbyanyinformationstorageandretrieval systemwithoutwrittenpermissionfromthecopyrightowner,exceptforbriefquotations embodiedincriticalarticlesandreviews.Materialsappearinginthisbookpreparedby individualsaspartoftheirofficialdutiesasU.S.governmentemployeesarenotcoveredby theabove-mentionedcopyright.Torequestpermission,pleasecontactLippincottWilliams &Wilkinsat530WalnutStreet,Philadelphia,PA19106,[email protected], orviawebsiteatlww.com(productsandservices). 9 8 7 6 5 4 3 2 1 LibraryofCongressCataloging-in-PublicationData Manualofendocrinologyandmetabolism/editor,NormanLavin.–4thed. p.;cm. Includesbibliographicalreferencesandindex. ISBN978-0-7817-6886-3(alk.paper) 1.Endocrinology–Handbooks,manuals,etc.2.Endocrineglands– Diseases–Handbooks,manuals,etc.3.Metabolism–Disorders– Handbooks,manuals,etc. I.Lavin,Norman. [DNLM: 1.EndocrineSystemDiseases–Handbooks.2.Metabolic Diseases–Handbooks. WK39M2942009] RC648.M3652009 616.4–dc22 2008049705 DISCLAIMER Carehasbeentakentoconfirmtheaccuracyoftheinformationpresentandtodescribe generallyacceptedpractices.However,theauthors,editors,andpublisherarenotresponsible forerrorsoromissionsorforanyconsequencesfromapplicationoftheinformationinthis bookandmakenowarranty,expressedorimplied,withrespecttothecurrency,completeness, oraccuracyofthecontentsofthepublication.Applicationofthisinformationinaparticular situationremainstheprofessionalresponsibilityofthepractitioner;theclinicaltreatments describedandrecommendedmaynotbeconsideredabsoluteanduniversalrecommendations. 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VisitLippincottWilliams&WilkinsontheInternet:http://www.lww.com.Lippincott Williams&Wilkinscustomerservicerepresentativesareavailablefrom8:30amto6:00pm, EST. iv P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 Thisbookisdedicatedto: Tomymotherandfather,andmybrother,Sheldon:Oneday,wewillallbetogetheragain. To my sister, Barbara—I cherish our continuing close friendship. Thank you for always “holdingmyhand.”Weallloveyou. Tomysons,AryeandJonah—whocontinuetobeonareflectivejourneytowardsspiri- tual, intellectual, and emotional enlightenment, and are teaming with great promise and freshstarts.Oneday,youwilllocateyourcoordinatesonthearcofhistory.Youareboth fulloftenderwisdom,brawlinginsight,andsharp-edgedhumorasyouexplorethetricky journeytoadulthoodwithhonestyandgenerosity.Youhavewovenaradianttapestrythat illuminatestheexperienceofadolescence.Asyouapproachadulthood,youwillexploreits complexities,feelitsambivalences,strugglewithitschoices,andliveimaginativelyitsmoral life. Youmakemelaugh,cry,andcherisheverymoment,butmostlyyoumakemeaware ofjoy—thewild,clatteringjoyofbeingalive.Frombothofyou,Ihavelearnedaboutthe poweroflove,theenduringstrengthoffamily,andthepossibilitiesoflife. Thankyou.Ilovebothofyoudearly. Tomywife,Michele,awomanofextremecaringandgiving,whopropelstheshiftingtides ofloveandneedintosomethingclosetomajesty.Everyday,everyyear,yourarmsstretch fartherandfarthertoencompassmorepeople,morelife. Yourspiritisgenerousandembracingandyourtriumphisthebreathing,shimmering worldyoucreatearoundourfamilyandfriends.Yourbeauty,intelligence,kindness,easy charm,andsteadfastindividualitymakemecherisheverymomentofourlivestogether. Michele—youarethepulsingemotionalcenterofmylife.Iloveyounowandforever. N.L. v P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 vi P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 CONTENTS Preface.................................................................... xiii Contributors............................................................... xv Acknowledgments........................................................ xxi I:BASICSCIENCEOFCLINICALENDOCRINOLOGY 1 ClinicalMolecularEndocrinologyLaboratory.............................. 1 JonNakamotoandWayneW.Grody 2 Hormone-ResistantStates................................................ 11 MitchellE.Geffner 3 GeneticsofEndocrinology................................................ 31 RenaEllenFalk II:HYPOTHALAMIC-PITUITARYDYSFUNCTION 4 AnteriorPituitaryDiseases................................................ 44 HaroldE.Carlson 5 ClinicalDisordersofVasopressin......................................... 60 CamilaManrique,GuidoLastra,AdamWhaley-Connell,andJamesR.Sowers 6 PituitaryDisordersandTallStatureinChildren.......................... 76 PhilipD.K.LeeandNormanLavin 7 ThePituitaryGlandandGrowthFailure................................... 95 OmarAliandPinchasCohen 8 TheRoleofIGF-1inaSelectivePopulationofShortChildren.......... 106 NormanLavin 9 GrowthHormoneinAdults.............................................. 109 NormanLavin 10 Prolactin.................................................................. 120 RichardF.Spark 11 EndocrinologyofPsychiatricDisorders................................. 128 CalvinEzrin vii P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 viii Contents III:ADRENALDISORDERS 12 TheAdrenalCortexandMineralocorticoidHypertension............... 131 NaftaliStern,EttyOsher,andMichaelL.Tuck 13 Pheochromocytomas.................................................... 160 GuidoLastra,AdamWhaley-Connell,andJamesR.Sowers 14 Neuroblastoma........................................................... 168 NormanLavin 15 CongenitalAdrenalHyperplasia......................................... 172 NaomiHorowitzJames,SarojNimkarn,KarenLin-Su,andMariaI.New 16 HormonalHypertension.................................................. 184 PhyllisW.Speiser 17 PrimaryHypertensioninChildren....................................... 198 NormanLavin 18 AdrenalSteroidExcessinChildhood................................... 219 ThomasA.Wilson 19 AdrenalInsufficiencyinChildhood...................................... 227 ThomasA.Wilson IV:DISORDERSOFTHEREPRODUCTIVESYSTEM 20 AmbiguousGenitalia..................................................... 235 SelmaF.WitchelandPeterA.Lee 21 Early,Precocious,andDelayedFemalePubertalDevelopment......... 244 ChristopherP.HoukandPeterA.Lee 22 FemaleReproductiveEndocrinologyinAdults......................... 264 EricD.LevensandAlanH.DeCherney 23 DisordersofSexualDevelopmentinthePediatricandAdolescentMale 276 LouisC.K.LowandChristinaWang 24 MaleReproductiveDisordersinAdults.................................. 301 VahidMahabadiandRonaldS.Swerdloff V:MINERALDISORDERS 25 DisordersofCalciotropicHormonesinAdults.......................... 333 FrederickR.SingerandArnoldS.Brickman 26 MetabolicBoneDisease................................................. 362 TheodoreJ.Hahn 27 CommonBoneandMineralDisordersofChildhood.................... 381 MichaelA.Levine P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 Contents ix VI:THYROIDDISORDERS 28 EvaluationofThyroidFunction.......................................... 414 PeterA.Singer 29 Thyroiditis................................................................ 426 PeterA.Singer 30 HypothyroidismandHyperthyroidism................................... 435 JeromeM.Hershman 31 ThyroidTumorsinAdults................................................ 449 JeromeM.Hershman 32 NewbornThyroidDisordersandScreening............................. 457 StephenLaFranchiandStephenA.Huang 33 ThyroidDisordersinChildrenandAdolescents......................... 478 NormanLavin 34 ThyroidCancerinChildren.............................................. 507 Kuk-WhaLee VII:METABOLICDISORDERS 35 HypoglycemiainInfantsandChildren................................... 512 CemS.Demirci,ShadiTabba,andMarkA.Sperling 36 HypoglycemiainAdults.................................................. 526 MayerB.Davidson 37 Obesity................................................................... 545 RichardA.Dickey,DonnaH.Ryan,andGeorgeA.Bray 38 DisordersofLipidMetabolism........................................... 554 StanleyH.Hsia VIII:INBORNERRORSOFMETABOLISM 39 IntroductiontoInbornErrorsofMetabolism............................ 568 StephenD.CederbaumandEricVilain 40 GlycogenStorageDiseases............................................. 577 JosephI.WolfsdorfandMichaelA.Dedekian IX:DIABETESMELLITUS 41 Etiology,Pathogenesis,andTherapyofType1DiabetesMellitus...... 589 JayS.Skyler 42 DiagnosisandManagementofType1DiabetesMellitus................ 598 StuartJ.Brink P1:OSO/OVY P2:OSO/OVY QC:OSO/OVY T1:OSO PRINTER:Donnelley LWBK222-FM LWBK222-Lavin-v1.cls January16,2009 21:2 x Contents 43 DiabeticKetoacidosis.................................................... 617 BenjaminFass 44 DiabetesMellitusType2,Obesity,Dyslipidemia,andthe MetabolicSyndromeinChildren......................................... 633 NormanLavin 45 Type2DiabetesMellitus................................................. 656 StephanieSmookePrawandAndrewJ.Drexler 46 Type1.5orType3DiabetesMellitus..................................... 673 AnnaPawlikowska-HaddalandEmilySwant 47 Pre-ExistingDiabetesandPregnancy................................... 677 SiriL.Kjos,MarieU.BeallandJohnKitzmiller 48 DiabetesMellitus:RecentDevelopmentsandClinicalImplications.... 685 CharlesChoeandStevenV.Edelman 49 DiabetesMellitusandtheGeriatricPatient.............................. 695 NicoleDucharme,AngelaD.Mazza,andJohnE.Morley X:SPECIALTOPICSINCLINICALENDOCRINOLOGY 50 EndocrineDiseasesinPregnancy....................................... 709 JorgeH.Mestman 51 HormonesandAging.................................................... 728 RaniNair,SrivalliVegi,AsifBhutto,andJohnE.Morley 52 APUDSyndromes........................................................ 740 AdrianLangleben 53 MultipleEndocrineNeoplasia(MEN)Syndromes....................... 749 AlfredM.Dashe 54 Radiology,NuclearMedicine,andEndocrinology....................... 754 Sing-YungWu 55 SurgeryforEndocrineDisorders........................................ 760 OrloH.Clark 56 DermatologicManifestationsofEndocrineDisorders................... 772 AnneW.Lucky 57 AutoimmuneEndocrineSyndromes..................................... 781 GeorgeS.Eisenbarth 58 Management of Some Hormone-Dependent Cancers with Analogs of HypothalamicHormones................................................. 786 AndrewV.SchallyandNormanL.Block