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Paediatric and Adolescent Gynaecology for the MRCOG Published online by Cambridge University Press Published online by Cambridge University Press Paediatric and Adolescent Gynaecology for the MRCOG Edited by Naomi S. Crouch StMichael’sHospital,Bristol Cara E. Williams LiverpoolWomen’sHospital Published online by Cambridge University Press UniversityPrintingHouse,CambridgeCB28BS,UnitedKingdom OneLibertyPlaza,20thFloor,NewYork,NY10006,USA 477WilliamstownRoad,PortMelbourne,VIC3207,Australia 314–321,3rdFloor,Plot3,SplendorForum,JasolaDistrictCentre, NewDelhi–110025,India 103PenangRoad,#05–06/07,VisioncrestCommercial,Singapore 238467 CambridgeUniversityPressispartoftheUniversityof Cambridge. ItfurtherstheUniversity’smissionbydisseminatingknowledgeinthe pursuitofeducation,learning,andresearchatthehighestinternational levelsofexcellence. www.cambridge.org Informationonthistitle:www.cambridge.org/9781108820769 DOI:10.1017/9781108907507 ©NaomiS.CrouchandCaraE.Williams2023 Thispublicationisincopyright.Subjecttostatutoryexceptionandto theprovisionsofrelevantcollectivelicensingagreements,no reproductionofanypartmaytakeplacewithoutthewrittenpermission ofCambridgeUniversityPress. Firstpublished2023 PrintedintheUnitedKingdombyTJBooksLimited,PadstowCornwall AcataloguerecordforthispublicationisavailablefromtheBritish Library. LibraryofCongressCataloging-in-PublicationData Names:Crouch,NaomiS.,editor.|Williams,CaraE.,editor. Title:PaediatricandadolescentgynaecologyfortheMRCOG/editedby NaomiS.Crouch,CaraE.Williams. Description:Cambridge,UnitedKingdom;NewYork,NY:Cambridge UniversityPress,2022.|Includesbibliographicalreferencesandindex. Identifiers:LCCN2022022853(print)|LCCN2022022854(ebook)| ISBN 9781108820769(paperback)|ISBN9781108907507(ebook) Subjects:MESH:UrogenitalDiseases|Child|Adolescent Classification:LCCRG110(print)|LCCRG110(ebook)|NLMWS321 |DDC 618–dc23/eng/20220624 LCrecordavailableathttps://lccn.loc.gov/2022022853 LCebookrecordavailableathttps://lccn.loc.gov/2022022854 ISBN978-1-108-82076-9Paperback CambridgeUniversityPresshasnoresponsibilityforthepersistenceor accuracyofURLsforexternalorthird-partyinternetwebsitesreferred tointhispublicationanddoesnotguaranteethatanycontentonsuch websitesis,orwillremain,accurateorappropriate. ......................................................................................................... Everyefforthasbeenmadeinpreparingthisbooktoprovideaccurateand up-to-dateinformationthatisinaccordwithacceptedstandardsand practiceatthetimeofpublication.Althoughcasehistoriesaredrawnfrom actualcases,everyefforthasbeenmadetodisguisetheidentitiesofthe individualsinvolved.Nevertheless,theauthors,editorsandpublisherscan makenowarrantiesthattheinformationcontainedhereinistotallyfree fromerror,notleastbecauseclinicalstandardsareconstantlychanging throughresearchandregulation.Theauthors,editorsandpublishers thereforedisclaimallliabilityfordirectorconsequentialdamagesresulting fromtheuseofmaterialcontainedinthisbook.Readersarestrongly advisedtopaycarefulattentiontoinformationprovidedbythe manufacturerofanydrugsorequipmentthattheyplantouse. Published online by Cambridge University Press Contents ListofContributors vi Introduction vii 1 EmbryologicalDevelopmentoftheInternal 9 RokitanskySyndrome 67 andExternalFemaleGenitalia 1 GailBusby AriannaMariottoandAnjuGoyal 10 TurnerSyndrome 77 2 GynaecologicalHistoryandExaminationin HelenE.TurnerandMatildeCalanchini ChildrenandAdolescents 9 11 DifferencesinSexDevelopment 87 HazelI.LearnerandSarahM.Creighton NaomiS.Crouch 3 NormalandPrecociousPuberty 17 12 PrematureOvarianInsufficiency 94 JoanneBlair LinaMichala 4 CommonPrepubertalProblemsinPaediatric 13 GynaecologicalLaparoscopyin Gynaecology 27 Adolescents 99 KaterinaBambang ThomasR.AustandAlfredCutner 5 AdolescentMenstrualDysfunction 33 14 PsychologyinPaediatricandAdolescent MeenakshiK.ChoudharyandMugdha Gynaecology 109 Kulkarni JulieAldersonandSamanthaCole 6 PolycysticOvarySyndromeinAdolescence 44 15 LegalandEthicalAspectsofPaediatricand AdamH.Balen AdolescentGynaecology 119 7 MüllerianDuctAnomalies 51 ParivakkamS.Arunakumari CaraE.Williams 8 PrimaryAmenorrhoeaandDelayed Puberty 57 ElizabethBurtandEphiaYasmin Index 130 v Published online by Cambridge University Press Contributors JulieAlderson,DPsychol SarahM.Creighton,MD,FRCOG PsychologicalHealthServices,BristolRoyalHospital DepartmentofWomen’sHealth,UniversityCollege forChildren,Bristol,UK LondonHospital,London,UK ParivakkamS.Arunakumari,MD,FRCOG, NaomiS.Crouch,MD,MRCOG MFFP DepartmentofGynaecology,StMichael’sHospital, Department of Obstetrics and Gynaecology, Bristol,UK Norfolk and Norwich University Hospital, AlfredCutner,MD,FRCOG Norwich, UK DepartmentofWomen’sHealth,UniversityCollege ThomasR.Aust,MD,MRCOG LondonHospital,London,UK WirralUniversityTeachingHospitalNHSFT,Wirral, AnjuGoyal,FRCS(Paed) UK;AlderHeyChildren’sHospital,Liverpool,UK DepartmentofPaediatricUrology,RoyalManchester AdamH.Balen,MD,DSc,FRCOG ChildrenHospital,Manchester,UK LeedsTeachingHospitalsNHSTrust, MugdhaKulkarni,MD,MRCOG Leeds,UK LeedsFertility,LeedsTeachingHospitalsNHSTrust, KaterinaBambang,PhD,MRCOG Leeds,UK HewittCentreforReproductiveMedicine,Liverpool HazelI.Learner,MRCOG,MFSRH Women’sHospital,Liverpool,UK DepartmentofWomen’sHealth,UniversityCollege JoanneBlair,MRCP,MRCPCH,MD LondonHospital,London,UK DepartmentofPaediatricEndocrinology,AlderHey AriannaMariotto,MBBS Children’sHospital,Liverpool,UK DepartmentofPaediatricUrology,RoyalManchester ElizabethBurt,MRCOG Children’sHospital,Manchester,UK DepartmentofObstetricsandGynaecology, LinaMichala,FRCOG,PhD UniversityCollegeLondonHospital,London,UK FirstDepartmentofObstetricsandGynaecology, GailBusby,MRCOG NationalandKapodistrianUniversityofAthens, DivisionofGynaecology,StMary’sHospital, AlexandraHospital,Athens,Greece Manchester,UK HelenE.Turner,MA,MD,FRCP MatildeCalanchini,Md,PhD DepartmentofEndocrinology,OxfordCentrefor OxfordCentreforDiabetes,Endocrinologyand Diabetes,EndocrinologyandMetabolism,Churchill Metabolism,ChurchillHospital,Oxford,UK Hospital,Oxford,UK MeenakshiK.Choudhary,MD,PhD,FRCOG CaraE.Williams,MRCOG NewcastleFertilityCentre,InternationalCentrefor AlderHeyChildren’sHospitalandLiverpool Life,NewcastleuponTyne,UK Women’sHospital,Liverpool,UK SamanthaCole,DPsychol EphiaYasmin,MD,MRCOG PsychologicalHealthServices,StMichael’sHospital, DepartmentofWomen’sHealth,UniversityCollege Bristol,UK LondonHospital,London,UK vi Published online by Cambridge University Press Introduction Paediatric and adolescent gynaecology (PAG) is a Thisbookisaimedattraineesingynaecologyand subspecialty that encompasses a broad spectrum of reproductivemedicineandconsultantswithaninter- conditionsaffectinggirlsfrombirthuptoadulthood. est in PAG. It also provides detailed guidance and For younger children, vulval dermatological condi- knowledge for all health care professionals working tionsarefrequentlyseen,whilsttheadolescentpopu- inthemultidisciplinaryteamprovidingcareforgirls lation will often present with menstrual dysfunction with gynaecological conditions, providing practical or pelvic pain, with a range of aetiologies. Rarer information about appropriate management and conditions, such as disorders of puberty, including whentoreferon. precocious puberty, delayed puberty and primary Chapters 1–6 cover normal embryological devel- amenorrhoea,maybeassociatedwithcomplexunder- opmentandpuberty,historytakingandexamination lyingconditionsandarethereforeappropriatelyman- and the more common PAG conditions. Chapters agedinconjunctionwithpaediatricendocrinologists. 7–15 cover the more complex conditions, including The more rare congenital gynaecological anomalies, safeguarding and legal aspects of PAG. Key learning including differences in sex development and pointsarehighlightedattheendofeachchapter. Müllerian ductanomalies, will often presentinitially Wehavebeendelightedtoworkwithauthorswithin at adolescence to a local gynaecology service but are thefieldofPAGwhohavebeenselectedasinternational morecomplexandrequirespecialistmultidisciplinary expertsintheirfieldsandhopethisbookwillinformand teaminputintertiarycentres. inspirefuturegenerationsofPAGclinicians. vii https://doi.org/10.1017/9781108907507.001 Published online by Cambridge University Press https://doi.org/10.1017/9781108907507.001 Published online by Cambridge University Press Chapter Embryological Development of the Internal 1 and External Female Genitalia Arianna Mariotto and Anju Goyal The development of internal and external genitalia thezygotetodevelopintoafemale.TheX-linkedand starts from the same baseline embryological point. autosomal genes initiate ovarian development and Fromtheninthweekofgestation,itdivergestodiffer- block testicular differentiation. The two main genes entiate into either male or female, depending on involved in female sexual differentiation are DAX1 chromosomes,genesandhormones.Thedevelopment and WNT4. DAX1 is a member of the nuclear hor- of internal femalegenitalia iscloselylinkedtothat of monereceptorfamilylocatedontheshortarmofthe theurinarytract;hencerelevantdetailsofurinarytract XchromosomeandactsbydownregulatingSF1activ- embryologywillbeoutlinedinthischapter. ity. WNT4 is a growth factor early expressed in the genital ridge that is maintained only in females and ff contributestoovariandifferentiation[2,3,5]. 1.1 Control of Sex Di erentiation In addition to genes, sexual differentiation is and Genetics affected by the hormonal milieu of the developing baby and end receptor sensitivity to hormones. Inspecieswithheteromorphicsexchromosomes,such Abnormal hormonal production by the placenta or ashumanbeings,sexdifferencesarisefromthegenetic adrenalcortex,orextraneoushormonalinfluence,or differences found in the sex chromosomes. The receptor insensitivity to hormones can affect sexual numerous sex-specific and sex-biased factors that development, which may be contrary to that which interact in the network of genes and molecules and wouldbeexpectedfromgeneticsex. result in sexual differentiation are called sexome [1]. Female-biasing factors include two X chromosomes, ff 1.2 Stages of Sex Di erentiation ovarian hormones; male-biasing factors include a single X chromosome, the Y chromosome, and tes- 1.2.1 Early Development of the Zygote ticular hormones. The primary sex-determining fac- torsareencodedbythesexchromosomesandarethe Organogenesis occurs in the first 10 weeks of gesta- onlyfactorsthatdifferinthemaleandfemalezygote. tionandtheremaining28weeksarespentinmatur- Thesecondaryfactorsinvolvegenesthatarecodedin ation,growthanddevelopmentoffunction. theautosomalchromosomes[1,2]. Afterfertilisation,thedevelopingzygotedividesand The key role in sex differentiation in male devel- formstheblastocyst(Figure1.1a).Later,twocavities– opmentisplayedbySRY(sex-determiningregionon the amniotic cavity and the yolk sac – develop. The Y chromosome), a transcription factor derived from embryo arises from two layers of cells interposed the short arm of the Y chromosome (Yp11). SRY between these two cavities, ectoderm and endoderm initiates a cascade of downstream genes that deter- (Figure 1.1b). At approximately 15 days, an ingrowth mine the male development. It acts directly on the of cells from the primitive streak forms a third layer gonadalridgeandindirectlyonthemesonephricduct between them, the mesoderm (Figure 1.1c). At the for the development of the testes. It also causes the head and tail ends of the embryo, the mesoderm is activationofgenesthatinhibitovariandifferentiation, deficient,resultinginthedevelopmentofthebuccophar- and it upregulates steroidogenesis factor 1 (SF1), yngeal and the cloacal membrane, respectively. The which through the SOX9 gene causes the differenti- mesoderm is divided into three parts: lateral plate ationofSertoliandLeydigcells[3,4]. mesoderm,intermediatemesodermandparaxialmeso- Absence of SRY in conjunction with positive derm(Figures1.1dand1.2a).Gonads,kidneysandgeni- mediationbyspecificgenesonXchromosomecauses tal ducts develop from the urogenital ridge on the 1 https://doi.org/10.1017/9781108907507.002 Published online by Cambridge University Press