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歲小女孩，初經來潮，最可能為49TreatmentTreatintracranialorunderlinediseaseBoneageGnRHanaloguesAromataseinhibitorTreatmentTreatintracranialor50DelayedpubertyNosecondarysexualcharacteristicsbyage14Noperiodbyage16Constitutionaldelay(10~30%)Hypergonadotropichypogonadism(karyotype)HypogonadotropichypogonadismHypothyroidismHyperprolactinemiaKallmann’ssyndromeIntracraniallesionAnorexia/poornutritionDelayedpubertyNosecondaryse51生殖系统发育异常及生殖内分泌学课件522005第二次醫師考試關於女性青春期發育遲緩（delayedpuberty），下列敘述何者不正確？第二性徵到13歲尚未出現到16歲還沒有初經乳房開始發育兩年內尚未有初經初經在其它第二性徵發育超過5年後尚未出現2005第二次醫師考試關於女性青春期發育遲緩（delaye53ThanksforyourattentionHaveaniceday!!ThanksforyourattentionHave54

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55p320DuctsystemGenderAssignmentp320DuctsystemGenderAssignme56Fig22-5Fig22-557Testis(SexdetermineRegionY,SRY)Testis(SexdetermineRegionY58生殖系统发育异常及生殖内分泌学课件59生殖系统发育异常及生殖内分泌学课件60Congenital

uterineanomalyCongenital

uterineanomaly612006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Defectiv62生殖系统发育异常及生殖内分泌学课件632006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64Disordersofsexdevelopment(DSD)SexchromosomeDSDDisordersofsexdevelopment(65Klinefelter’ssyndromeMostcommonsexchromosomeaneuploidy(1:500~1000)47,XXY,48,XXXY,ormosacismHyalinizedtestesandmaleinfertilityTestosteronesupplementationTesticularspermextraction(TESE)andintracytoplasmicsperminjection(ICSI)SpermdonationKlinefelter’ssyndromeMostcom66生殖系统发育异常及生殖内分泌学课件67Mixedgonadaldysgenesis45,X/46,XYandvariantsDysgenetictestes,sometimesovarian-likestroma(likeTurner’ssyndrome)Femaleexternalgenitalia,sometimeswithMüllerianstructuresGonadectomyandestrogenreplacementMixedgonadaldysgenesis45,X/4682009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,XY69OvotestitularDSD

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

(Tureherm702003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（trueherma71DisorderofgonadoldevelopmentOvotesticularDSDCompletetesticulardysgenesisSwyersyndromeMutationordeletionofSRYXYkaryotypewithfemalegenitaliaRemovegonadassoonaspossibleAnorchiaVanishingtestissyndromeMalegenitaliawithoutdetectabletestes46,XXtesticularDSDDisorderofgonadoldevelopmen72Disordersoffetalendocrinology46,XXDSDMasculinizedfemalesFemalepseudohermaphroditism46,XYDSDIncompletelymasculinizedmalesMalepseudohermaphroditismDisordersoffetalendocrinolo73MasculiniziedfemalesCongenitaladrenalhyperplasia(AR)21-hydroxylase(P450c21)deficiency11β-hydroxylase(P450c11)deficiency3β-hydroxysteroiddehydrogenesedeficiencyElevatedandrogensinmaternalcirculationDrugintakeMaternaldiseaseAromatase(P450arom)deficiencyMasculiniziedfemalesCongenita742007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75SexhormonesynthesisSexhormonesynthesis76CongenitaladrenalhyperplasiaCongenitaladrenalhyperplasia772008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，78IncompletelymasculinizedmalesAndrogeninsensitivitysyndromeAbnormalandrogensynthesisGonadotropin-resistanttestisLHreceptormutationLeydigcellhypoplasiaAbsentordefectanti-müllerianhormonePersistentMüllerianductsyndromeUndescendedtestisIncompletelymasculinizedmale79AndrogenAndrogen80AndrogeninsensitivitysyndromeTesticularfeminizationsyndrome46,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Androgeninsensitivitysyndrom81AndrogeninsensitivitysyndromeFemalePhenotypicspectrumMaleAndrogeninsensitivitysyndrom82AbnormalandrogensynthesisDefectsintesticularsteroidogenesis(AR)P450side-chaincleavage3β-hydroxysteroiddehydrogenaseP45017α17β-hydroxysteroiddehydrogenase5α-reductaseLipoidcongenitaladrenalhyperplasiaSteroidogenicacuteregulatoryprotein(StAR)defectImpairedcholesteroltransportationintomitochondriaAbnormalandrogensynthesisDef83SexhormonesynthesisSexhormonesynthesis84Summary:ambiguousgenitaliaRuleoutcongenitaladrenalhyperplasiaMedicalhistoryandfamilyhistoryPalpationofgonadPelvicultrasonography/MRIKaryotypeGonadectomySummary:ambiguousgenitaliaRu85p320Ductsystemp320Ductsystem86FSHLHHypothalamic-

pituitarysystemFSHHypothalamic-

pituitarysys87PubertyPuberty88AdrenarchePubarcheAdrenalandrogenpubic/axillaryhairIndependentfromGnRH-pituitary-ovarianmaturation(gonadarche)Adrenalandrogen-stimulatingfactorAdrenalenzymeactivityAdrenarchePubarche89GonadarcheIntrinsicsuppressionofGnRH↓Sensitivitytoestrogennegativefeedback↓AcceleratedgrowthBreastdevelopmentMenarcheGonadarcheIntrinsicsuppressio90Gonadotropin-releasinghormone

(GnRH)Gonadotropin-releasinghormone91Two-celltheoryTwo-celltheory92

AdrenarcheAdrenarche932006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94TimingofpubertyGeneticfactorGeographiclocationExposuretolightGeneralhealthandnutritionPsychologicfactorTimingofpubertyGeneticfacto95生殖系统发育异常及生殖内分泌学课件96TannerstagesTannerstages97TannerstagesTannerstages98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