Sperling Pediatric Endocrinology PDF
Preview Sperling Pediatric Endocrinology
SPERLING PEDIATRIC ENDOCRINOLOGY This page intentionally left blank FIFTH EDITION SPERLING PEDIATRIC ENDOCRINOLOGY EDITOR Mark A. Sperling, MD ASSOCIATE EDITORS Joseph A. Majzoub, MD Ram K. Menon, MD, FRCP Constantine A. Stratakis, MD, D(MED)Sc, PhD(hc) Elsevier 1600JohnF.KennedyBlvd. Ste1800 Philadelphia,PA19103-2899 PEDIATRICENDOCRINOLOGY,FIFTHEDITION ISBN:978-0-323-62520-3 Copyright©2021byElsevier,Inc.Allrightsreserved. Nopartofthispublicationmaybereproducedortransmittedinanyformorbyanymeans,electronicor mechanical,includingphotocopying,recording,oranyinformationstorageandretrievalsystem,without permissioninwritingfromthepublisher.Detailsonhowtoseekpermission,furtherinformationaboutthe Publisher’spermissionspoliciesandourarrangementswithorganizationssuchastheCopyrightClearance CenterandtheCopyrightLicensingAgency,canbefoundatourwebsite:www.elsevier.com/permissions. ThisbookandtheindividualcontributionscontainedinitareprotectedundercopyrightbythePublisher (otherthanasmaybenotedherein). Notice Practitionersandresearchersmustalwaysrelyontheirownexperienceandknowledgeinevaluatingand usinganyinformation,methods,compoundsorexperimentsdescribedherein.Becauseofrapidadvances inthemedicalsciences,inparticular,independentverificationofdiagnosesanddrugdosagesshouldbe made.Tothefullestextentofthelaw,noresponsibilityisassumedbyElsevier,authors,editorsor contributorsforanyinjuryand/ordamagetopersonsorpropertyasamatterofproductsliability, negligenceorotherwise,orfromanyuseoroperationofanymethods,products,instructions,orideas containedinthematerialherein. Previouseditionscopyrighted2014,2008,2002,1996. LibraryofCongressControlNumber2020936250 ContentStrategist:SarahBarth ContentDevelopmentSpecialist:MeghanAndress PublishingServicesManager:ShereenJameel ProjectManager:RukmaniKrishnan DesignDirection:RyanCook PrintedinChina Lastdigitistheprintnumber:9 8 7 6 5 4 3 2 1 Toourwivesandfamilieswhoprovidemeaning,joy andcontinuitytoourlivesandwhosesupportwasintegraltothecompletionofthisbook. Foreword to the First Edition The aim of the editor and contributors to this volume is to Aglanceattherosterofcontributors to thisvolumemaywell establish an effective bridge between the surging progress in provideinsightintowhy;manywhoareresponsibleforthedra- biomedicalscienceandtheclinicalpracticeofpediatricendo- matic advances in the laboratory also pursue active clinical crinology.Halfacenturyagothebiochemicalelucidationofthe careers. structure and subsequent synthesis of steroid hormones pro- Thisvolumeincludesmanynewsectionsthatwerenotpre- videdthebasisforarevolutioninthediagnosisandtreatment sented in previous texts devoted to clinical pediatric endocri- ofanumberofendocrineandnonendocrinedisorders.Thatera nology. It will serve as a valuable reference for family wassoonfollowedbyasuccessionoffundamentaldiscoveries: physicians, internists, pediatricians, and other health profes- structureofpeptidehormones,identificationofreleasinghor- sionals,coveringasitdoesthegamutofinformationfrombasic mones from the brain, rapid and precise assay methods, and molecularbiologytopracticalconsiderationsinthediagnosis synthesis of peptide hormones by molecular biological tech- andtreatmentofpediatricendocrinedisorders. niques,tonamebutafew. Innofieldhaslaboratorysciencebeenmoreeffectivelytrans- SolomonA.Kaplan,MD1924-2017 lated into clinical progress than in pediatric endocrinology. vi Preface PREFACE TO THE 5TH EDITION thefield;eachchapterhasbeenappropriatelyandoftenexten- sivelyupdated,althoughitispossiblethatinthisfast-moving Inhisforewordtothefirsteditionin1996,SolomonA.Kaplan, era,thenewestdiscoveriesmayhavebeenpublishedafterfinal- MD(1924-2017)stated“Theaimoftheeditorandcontribu- izedmanuscriptsweresubmitted.Therealsomaybeinadvertent torstothisvolumeistoestablishaneffectivebridgebetween errorsthatslippedbyourcarefulattention;weapologizeand thesurgingprogressinbiomedicalscienceandtheclinicalprac- thankthosereaderswhobroughtthemtoournotice. tice of pediatric endocrinology.” This has been the guiding Nevertheless, wemarvel atthevastly increased knowledge principleofeacheditionandremarkably,thesurgingpaceof sincetheprioredition,andthechangesindiagnosticandther- progress in biomedical sciences remains unabated as does its apeuticarmamentariumthathavebecomeavailable.Forexam- applicationtopediatricendocrinology,justifyingthisupdated ple, in childhood diabetes mellitus, closed-loop systems and andexpandedfifthedition.Now,some25yearslater,aquarter continuous glucose monitoring are increasingly the norm in centuryafterthefirstedition,thevistaofpediatricendocrinol- highly developed countries; glucagon-like peptide 1 agonists ogy is much expanded and vastly changed, especially by the are approved for children with type 2 diabetes mellitus application of molecular genetic techniques to the dissection (T2DM); andgastric bypasssurgeries areincreasinglyapplied oftheetiologyandpotential remedyofcongenital endocrine to adolescents with obesity and T2DM. Novelty abounds in disorders. Although the disorder(s) manifest in childhood, eachchapter,soweaffirmthatthereissufficientnewmaterial adolescence,oreveninadults,manyhavetheiroriginincon- forboththeseriousstudentand/ortheestablishedendocrine genitaloracquiredgeneticalterations,somepossiblyviaenvi- practitioner/investigatortomakethisa“musthave”book. ronmentallyinducedepigeneticmodifications. Ihavealwaysconsideredthattheeditorshipofthisbookisa Toaccommodatethesechanges,wehaveexpandedtheedi- greatprivilege,alaboroflovewellworththeenormouseffort torialteambyincludingthreeoutstandingphysician-scientists involved.Onthisoccasion,Iexpressmysincerethankstothe as associate editors; each has made significant contributions associate editors, Drs Majzoub, Menon, and Stratakis, who to pediatric endocrinology in original research, leadership, equallysharedtheworkofeditingandcontributing.Iextend andmentorship.Wealsointroducedtwonewchaptersdealing sincere and warm-hearted thanks to all contributors; each of withmaternalandfetalendocrinologyinparturitionandgender yourcontributionsishighlyrespectedandhighlyvalued. medicine,andincludedanexpandedsectiononprecisionmed- icine in the chapter on “Molecular Endocrinology, Endocrine MarkA.Sperling Genetics,andPrecisionMedicine.”Severalofthechaptershave NewYork,NewYork entirelynewauthors,acknowledgedleadersintheirfield,ornew Spring2020 authorswithexpertisecomplementingestablishedleader(s)in vii Acknowledgments Anenterpriseofthisnaturerequiresthecontributionandsup- to our departmental programs in endocrinology. A special port of numerous individuals. I gratefully acknowledge the thanks to Ms. Meghan Andress of Elsevier, whose experience, contributionsofeachoftheauthors,whosefriendshipandcol- diligence,andpatienceenabledthisprojecttomovetotimely legialitywere—andcontinuetobe—indispensabletobringthis conclusion.WeexpressourthankstoElsevierforgivingusthe worktopublication.Constructivecritiquewasprovidedbycol- privilegeofeditingthisbook. leagues, postdoctoral trainees, residents, and visiting scholars viii
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