生殖系统发育异常及生殖内分泌学课件

生殖系統發育異常及

生殖內分泌學台北榮民總醫院婦產部何積泓醫師2009/11/02生殖系統發育異常及

生殖內分泌學台1p320DuctsystemGenderAssignmentp320DuctsystemGenderAssignme2Fig22-5Fig22-53Testis(SexdetermineRegionY,SRY)Testis(SexdetermineRegionY4生殖系统发育异常及生殖内分泌学课件5生殖系统发育异常及生殖内分泌学课件6Congenital

uterineanomalyCongenital

uterineanomaly72006第一次醫師考試女性陰道發育時如發生Defectivecanalization時可能會有下列何種結果？陰道縱向中隔陰道橫向中隔處女膜閉鎖子宮內膜中隔2006第一次醫師考試女性陰道發育時如發生Defectiv8生殖系统发育异常及生殖内分泌学课件92006第一次醫師考試胎兒的性別發育過程當中，那個事件是最早發生？苗勒氏管（Müllerianduct）的退化伏耳夫氏管（Wölffianduct）的退化伏耳夫氏管的分化苗勒氏管的分化2006第一次醫師考試胎兒的性別發育過程當中，那個事件是最10Disordersofsexdevelopment(DSD)SexchromosomeDSDDisordersofsexdevelopment(11Klinefelter’ssyndromeMostcommonsexchromosomeaneuploidy(1:500~1000)47,XXY,48,XXXY,ormosacismHyalinizedtestesandmaleinfertilityTestosteronesupplementationTesticularspermextraction(TESE)andintracytoplasmicsperminjection(ICSI)SpermdonationKlinefelter’ssyndromeMostcom12生殖系统发育异常及生殖内分泌学课件13Mixedgonadaldysgenesis45,X/46,XYandvariantsDysgenetictestes,sometimesovarian-likestroma(likeTurner’ssyndrome)Femaleexternalgenitalia,sometimeswithMüllerianstructuresGonadectomyandestrogenreplacementMixedgonadaldysgenesis45,X/4142009第一次醫師考試染色體為45,X/46,XY者，性腺容易長腫瘤，但下列何者除外？GonadoblastomaTeratomaDysgerminomaYolksactumor2009第一次醫師考試染色體為45,X/46,XY15OvotestitularDSD

(Turehermaphroditism)MixtureofgonadalsexOvotestisoroneovary+onetestisAmbiguousexternalgenitaliaorsignificanthypospadia46,XX,46,XY,orchimerismRemovediscordantgonadanddysgenetictissueOvotestitularDSD

(Tureherm162003第一次醫師考試有關真性陰陽人（truehermaphroditism）之敘述，下列何者正確？只存在男性或女性之性腺組織外性器官大部分明確XY基因型者，絕不會出現月經缺乏乳房發育2003第一次醫師考試有關真性陰陽人（trueherma17DisorderofgonadoldevelopmentOvotesticularDSDCompletetesticulardysgenesisSwyersyndromeMutationordeletionofSRYXYkaryotypewithfemalegenitaliaRemovegonadassoonaspossibleAnorchiaVanishingtestissyndromeMalegenitaliawithoutdetectabletestes46,XXtesticularDSDDisorderofgonadoldevelopmen18Disordersoffetalendocrinology46,XXDSDMasculinizedfemalesFemalepseudohermaphroditism46,XYDSDIncompletelymasculinizedmalesMalepseudohermaphroditismDisordersoffetalendocrinolo19MasculiniziedfemalesCongenitaladrenalhyperplasia(AR)21-hydroxylase(P450c21)deficiency11β-hydroxylase(P450c11)deficiency3β-hydroxysteroiddehydrogenesedeficiencyElevatedandrogensinmaternalcirculationDrugintakeMaternaldiseaseAromatase(P450arom)deficiencyMasculiniziedfemalesCongenita202007第一次醫師考試懷孕時引起母親及女嬰男性化，最常見的原因為何？DermoidcystLuteomaBrennertumorYolksactumor2007第一次醫師考試懷孕時引起母親及女嬰男性化，最常見的21SexhormonesynthesisSexhormonesynthesis22CongenitaladrenalhyperplasiaCongenitaladrenalhyperplasia232008第一次醫師考試一位21歲女性，因陰蒂肥大求診，被診斷為congenitaladrenalhyperplasia（CAH），其血中17-hydroxyprogesterone（17-HP）為600ng/dL。下列關於CAH之病因及治療的敘述，何者最適當？最常見為21-hydroxylasedeficiency，治療最有效為cortisone最常見為11β-hydroxylasedeficiency，治療最有效為dexamethasone最常見為21-hydroxylasedeficiency，治療最有效為dexamethasone最常見為11β-hydroxylasedeficiency，治療最有效為cortisone2008第一次醫師考試一位21歲女性，因陰蒂肥大求診，24IncompletelymasculinizedmalesAndrogeninsensitivitysyndromeAbnormalandrogensynthesisGonadotropin-resistanttestisLHreceptormutationLeydigcellhypoplasiaAbsentordefectanti-müllerianhormonePersistentMüllerianductsyndromeUndescendedtestisIncompletelymasculinizedmale25AndrogenAndrogen26AndrogeninsensitivitysyndromeTesticularfeminizationsyndrome46,XYGenedefectofXq12無子宮而陰道短，有睪丸但未下降外觀為女性，無陰毛或寡陰毛青春期後將性腺摘除，補充荷爾蒙結婚前做人工陰道Androgeninsensitivitysyndrom27AndrogeninsensitivitysyndromeFemalePhenotypicspectrumMaleAndrogeninsensitivitysyndrom28AbnormalandrogensynthesisDefectsintesticularsteroidogenesis(AR)P450side-chaincleavage3β-hydroxysteroiddehydrogenaseP45017α17β-hydroxysteroiddehydrogenase5α-reductaseLipoidcongenitaladrenalhyperplasiaSteroidogenicacuteregulatoryprotein(StAR)defectImpairedcholesteroltransportationintomitochondriaAbnormalandrogensynthesisDef29SexhormonesynthesisSexhormonesynthesis30Summary:ambiguousgenitaliaRuleoutcongenitaladrenalhyperplasiaMedicalhistoryandfamilyhistoryPalpationofgonadPelvicultrasonography/MRIKaryotypeGonadectomySummary:ambiguousgenitaliaRu31p320Ductsystemp320Ductsystem32FSHLHHypothalamic-

pituitarysystemFSHHypothalamic-

pituitarysys33PubertyPuberty34AdrenarchePubarcheAdrenalandrogenpubic/axillaryhairIndependentfromGnRH-pituitary-ovarianmaturation(gonadarche)Adrenalandrogen-stimulatingfactorAdrenalenzymeactivityAdrenarchePubarche35GonadarcheIntrinsicsuppressionofGnRH↓Sensitivitytoestrogennegativefeedback↓AcceleratedgrowthBreastdevelopmentMenarcheGonadarcheIntrinsicsuppressio36Gonadotropin-releasinghormone

(GnRH)Gonadotropin-releasinghormone37Two-celltheoryTwo-celltheory38

AdrenarcheAdrenarche392006第二次醫師考試

2008第二次醫師考試女性青春期發育順序，最常出現之順序為：加速長高→乳芽發育→陰毛生長→初經乳芽發育→陰毛生長→初經→加速長高陰毛生長→乳芽發育→加速長高→初經乳芽發育→加速長高→初經→陰毛生長2006第二次醫師考試

2008第二次醫師考試女性青春期40TimingofpubertyGeneticfactorGeographiclocationExposuretolightGeneralhealthandnutritionPsychologicfactorTimingofpubertyGeneticfacto41生殖系统发育异常及生殖内分泌学课件42TannerstagesTannerstages43TannerstagesTannerstages44女性乳房發育，乳芽(budding)出現係在唐納分期(TannerStage)之第幾期？第一期第二期第三期第四期女性乳房發育，乳芽(budding)出現係在唐納分期(45PrecociouspubertyPubertalchangesbeforeage8Menarchebeforeage10GnRH-dependent(80%)IdiopathicCNSproblem(brainMRI)HypothyroidismGnRH-independentOvariancystortumorMcCune-AlbrightsyndromeAdrenaltumorEctopicgonadotropinproductionPrecociouspubertyPubertalcha462005第一次醫師考試少女性早熟（precociouspuberty），第一步檢查為何？血中性腺激素（gonadotropin）雌激素Dehydroepiandrosteronesulfate(DHEAS)雄性素2005第一次醫師考試少女性早熟（precociousp472005第二次醫師考試女性性早熟（precociouspuberty）指青春期發育在幾歲之前開始？6歲8歲10歲12歲2005第二次醫師考試女性性早熟（precociousp482007第一次醫師考試一位6歲小女孩，初經來潮，最可能為何？Turner’ssyndromeKallmann’ssyndromeIsolatedgonadotropindeficiency11-β-Hydroxylasedeficiency2007第一次醫師考試一位6歲小