Control of sex development.
The process of sexual differentiation is central for reproduction of almost all metazoan, and therefore, for maintenance of practically all multicellular organisms. In sex development, we can distinguish two different processes, sex determination, that is the developmental decision that directs the undifferentiated embryo into a sexually dimorphic individual. In mammals, sex determination equals gonadal development. The second process known as sex differentiation takes place once the sex determination decision has been made through factors produced by the gonads that determine the development of the phenotypic sex. Most of the knowledge on the factors involved in sexual development came from animal models and from studies of cases in whom the genetic or the gonadal sex does not match the phenotypical sex, that is, patients affected by disorders of sex development (DSDs). Generally speaking, factors influencing sex determination are transcriptional regulators, whereas factors important for sex differentiation are secreted hormones and their receptors. This review focuses on these factors and whenever possible, references regarding the 'prismatic' clinical cases are given.
Biason-Lauber
Anna
A
Division of Endocrinology/Diabetology, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. Anna.Lauber@kispi.uzh.ch
D000818:Animals; D054304:Anti-Mullerian Hormone / Q000235:genetics / Q000502:physiology; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics / Q000502:physiology; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000502:physiology; D012734:Disorders of Sex Development / Q000235:genetics / Q000503:physiopathology; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000502:physiology; D050991:GATA4 Transcription Factor / Q000502:physiology; D006059:Gonadal Dysgenesis / Q000235:genetics; D006066:Gonads / Q000196:embryology*; D053823:Hedgehog Proteins / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D019746:Intramolecular Oxidoreductases / Q000502:physiology; D060850:LIM-Homeodomain Proteins; D054834:Lipocalins / Q000502:physiology; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology; D051762:PAX2 Transcription Factor / Q000502:physiology; D010641:Phenotype; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins / Q000502:physiology; D055748:SOXB1 Transcription Factors / Q000235:genetics / Q000502:physiology; D012733:Sex Differentiation / Q000235:genetics / Q000502:physiology*; D046468:Sexual Development / Q000235:genetics / Q000502:physiology*; D054339:Steroidogenic Factor 1 / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D025721:WT1 Proteins / Q000235:genetics / Q000502:physiology; D051153:Wnt Proteins / Q000502:physiology; D060528:Wnt4 Protein; D000075924:X-linked Nuclear Protein; D000099260:Empty Spiracles Homeobox Proteins
D054304:Anti-Mullerian Hormone; D057137:DAX-1 Orphan Nuclear Receptor; D004265:DNA Helicases; D004268:DNA-Binding Proteins; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D050991:GATA4 Transcription Factor; D053823:Hedgehog Proteins; D018398:Homeodomain Proteins; D019746:Intramolecular Oxidoreductases; D060850:LIM-Homeodomain Proteins; D054834:Lipocalins; D009687:Nuclear Proteins; D051762:PAX2 Transcription Factor; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins; D055748:SOXB1 Transcription Factors; D054339:Steroidogenic Factor 1; D014157:Transcription Factors; D025721:WT1 Proteins; D051153:Wnt Proteins; D060528:Wnt4 Protein; D000075924:X-linked Nuclear Protein; D000099260:Empty Spiracles Homeobox Proteins; C509245:DHH protein, human; C110547:DMRT1 protein; C421604:FOXL2 protein, human; C117058:Lhx9 protein, mouse; C528016:MAMLD1 protein, human; C539965:NR0B1 protein, human; C515057:NR5A1 protein, human; C497318:PAX2 protein, human; C510183:TSPYL1 protein, human; C555581:WNT4 protein, human; C555582:Wnt4 protein, mouse; C088144:HoxA protein; C092332:ATRX protein, human; C022466:prostaglandin R2 D-isomerase