TY  - CHAP
M1  - Book, Section
TI  - Disorders of Sex Development
A1  - Rey, Rodolfo A.
A1  - Houk, Christopher P.
A1  - Witchel, Selma
A1  - Lee, Peter A.
A2  - Gardner, David G.
A2  - Shoback, Dolores
Y1  - 2017
N1  - 
T2  - Greenspan's Basic & Clinical Endocrinology, 10e
AB  - Table  Graphic  Jump  Location|Download  (.pdf)|Print17-OHP17-hydroxyprogesterone21-OHD21-hydroxylase  deficiencyABSAntley-Bixler  syndromeACTHAdrenocorticotropinAGDAsymmetric  gonadal  differentiation  (synonym  Mixed  Gonadal  Dysgenesis,  MGD)AISAndrogen  insensitivity  syndromeAKR1CAldo-ketoreductaseALDHAldehyde  dehydrogenase  (synonym:  Retinaldehyde  Dehydrogenase,  RALDH)AMHAnti-Müllerian  hormone  (synonym:  Müllerian  Inhibiting  Substance,  MIS)AMHRAMH  receptorARAndrogen  receptorAREAndrogen  response  elementATRXAlpha-thalassemia,  mental  retardation  gene  on  the  X  chromosomeAXINAxis  inhibitorBMPBone  morphogenetic  proteinC4Complement  component  4CAHCongenital  adrenal  hyperplasiaCAISComplete  androgen  insensitivity  syndromeCBX2Chromobox  homolog  gene  2CFTRCystic  fibrosis  transmembrane  conductance  regulatorCGHComparative  genomic  hybridizationCGPRCalcitonin  gene-related  peptideCITEDCBP/p300-interacting  transactivatorC-KITKit  oncogeneCNSCentral  nervous  systemCNVCopy-number  variationCYP11B1Cytochrome  P450,  family  21,  subfamily  B,  polypeptide  1CYP17A1Cytochrome  P450,  family  17,  subfamily  A,  polypeptide  1CYP19A1Cytochrome  P450,  family  19,  subfamily  A,  polypeptide  1CYP21A1PCytochrome  P450,  family  21,  subfamily  A,  polypeptide  1  pseudogeneCYP21A2Cytochrome  P450,  family  21,  subfamily  A,  polypeptide  2CYP26B1Cytochrome  P450,  family  26,  subfamily  B,  polypeptide  1CYP51A1Cytochrome  P450,  family  51,  subfamily  A,  polypeptide  1DACHDachshundDAX1DSS  (dosage-sensitive  sex  reversal)-associated  gene  1DELFIADissociation-enhanced  lanthanide  fluoroimmunoassayDHCRDehydrocholesterol  reductaseDHEADehydroepiandrosteroneDHHDesert  hedgehogDHTDihydrotestosteroneDMDoublesex-  and  MAB3DMRTDoublesex-  and  MAB3-related  transcription  factorDNADeoxyribonucleic  acidDOCDeoxycorticosteroneDSDDisorder  of  sex  developmentEMXEmpty  spiracles  geneFGFFibroblast  growth  factorFGFRFibroblast  growth  factor  receptorFISHFluorescent  in  situ  hybridizationFOGFriend  of  GATAFOXL2Forkhead  transcription  factor  2FSHFollicle-stimulating  hormoneFSTFollistatinGADD45GGrowth  arrest-  and  DNA  damage-inducible  gene  45  gammaGATA4GATA-binding  protein  4GC-MSGas  chromatography-mass  spectrometryGSK3βGlycogen  synthase  kinase  3-betaGWASGenome-wide  association  studieshCGHuman  chorionic  gonadotropinHMGHigh  mobility  groupHOXHomeoboxHRQOLHealth-related  quality  of  lifeHSDHydroxysteroid  dehydrogenaseHSD3B3-beta-hydroxysteroid  dehydrogenaseIGF1Insulin-like  growth  factor  1IGFBP3Insulin-like  growth  factor  binding  protein  3IMIntramuscularINSL3Insulin-like  factor  3IUInternational  unitLC-MS/MSLiquid  chromatography-mass  spectrometry  in  tandemLEFLymphoid  enhancer-binding  factor  1LGR4Leucine-rich  repeat-containing  G  protein-coupled  receptorLH/CGRLuteinizing  hormone/chorionic  gonadotropin  receptorLHLuteinizing  hormoneLHXLIM  homeobox  geneLHX9LIM  homeobox  gene  9MAMLD1Mastermind-like  domain-containing  protein  1MAP3K4Mitogen-activated  protein  kinase  4MGDMixed  gonadal  dysgenesis  (synonym  Asymmetric  gonadal  differentiation,  AGD)MKKSMcKusick-Kaufman  syndromeMRKHMayer-Rokitansky-Küster-Hauser  syndromeMURCSMüllerian  agenesis  associated  with  urinary  tract  abnormalities,  and  even  cervicothoracic  somite  dysplasiaNANOGHomeobox  transcription  factor  NaNogNCAHNonclassic  congenital  adrenal  hyperplasiaNR0B1Nuclear  receptor  subfamily  0,  group  B,  member  1NR3C1Nuclear  receptor  subfamily  3,  group  C,  member  1NR5A1Nuclear  receptor  subfamily  5,  group  A,  member  1OARTOvarian  adrenal  rest  tumorOCTOctamer  binding  transcription  factorP450c17Cytochrome  P450  17-hydroxylase/17,20-lyaseP450sccCytochrome  P450  side-chain  cleavage  enzymePAISPartial  androgen  insensitivity  syndromePARPseudoautosomal  regionPAXPaired  box  genePCOSPolycystic  ovary  syndromePCRPolymerase  chain  reactionPDGFPlatelet-derived  growth  factorPGD6-phosphogluconate  dehydrogenasePKDPolycystic  kidney  diseasePMDSPersistent  Müllerian  duct  syndromePOMCProopiomelanocortinPORCytochrome  P450  oxidoreductasePRDMPR  domain-containing  protein  (synonym:  B  lymphocyte-induced  maturation  protein,  BLIMP)PTENPhosphatase  and  tensinQoLQuality  of  lifeRNARibonucleic  acidRPRetinitis  pigmentosaRSPO1Roof  plate-specific  spondin  1S  compound11-deoxycortisolSERKALSex  reversal  with  dysgenesis  of  kidneys,  adrenals  and  lungsSF1Steroidogenic  factor  1  (synonym:  Adrenal  4  binding  protein,  Ad4BP)SHOXShort  stature  homeoboxSIXSine  oculis  homeobox  genesSLOSSmith-Lemli-Opitz  SyndromeSNPSingle-nucleotide  polymorphismSOXSRY-related  boxSRD5A2Steroid  5-alpha-reductase  2SRYSex-determining  region  on  the  Y  chromosomeStARSteroidogenic  acute  regulatory  proteinSTRA8Stimulated  by  retinoic  acid  gene  8TARTTesticular  adrenal  rest  tumorTESTestis  specificTESCOTES  core  elementTGFTransforming  growth  factorTHFTetrahydrocortisolTHSTetrahydro-11-deoxycortisolTNXTenascinTSPOTranslocator  proteinVANGLVan  Gogh-likeVEGFVascular  endothelial  growth  factorWAGRWilms  tumor,  aniridia,  genitourinary  anomalies  and  mental  retardationWESWhole  exome  sequencingWGSWhole  genome  sequencingWNTWingless-type  MMTV  integration  siteWT1Wilms  tumor  gene  1  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1144817971
ER  -