Control of sex development

被引:75
作者
Biason-Lauber, Anna [1 ]
机构
[1] Univ Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
关键词
sex development; sex determination; sex differentiation; ovary; testis; disorders of sex development (DSD); bipotential state; PREMATURE OVARIAN FAILURE; FOLLICLE-STIMULATING-HORMONE; MIXED GONADAL-DYSGENESIS; STEROIDOGENIC FACTOR-I; TUMOR SUPPRESSOR GENE; BONE MORPHOGENETIC PROTEIN-15; MULLERIAN DUCT SYNDROME; SUDDEN-INFANT-DEATH; WILMS-TUMOR; TRANSCRIPTION FACTOR;
D O I
10.1016/j.beem.2009.12.002
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 focusses on these factors and whenever possible, references regarding the 'prismatic' clinical cases are given. (C) 2009 Elsevier Ltd. All rights reserved.
引用
收藏
页码:163 / 186
页数:24
相关论文
共 157 条
  • [1] Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis
    Aaltonen, J
    Laitinen, MP
    Vuojolainen, K
    Jaatinen, R
    Horelli-Kuitunen, N
    Seppä, L
    Louhio, H
    Tuuri, T
    Sjöberg, J
    Bützow, R
    Hovatta, O
    Dale, L
    Ritvos, O
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (08) : 2744 - 2750
  • [2] A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
    Achermann, JC
    Ito, M
    Ito, M
    Hindmarsh, PC
    Jameson, JL
    [J]. NATURE GENETICS, 1999, 22 (02) : 125 - 126
  • [3] MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE
    AITTOMAKI, K
    LUCENA, JLD
    PAKARINEN, P
    SISTONEN, P
    TAPANAINEN, J
    GROMOLL, J
    KASKIKARI, R
    SANKILA, EM
    LEHVASLAIHO, H
    ENGEL, AR
    NIESCHLAG, E
    HUHTANIEMI, I
    DELACHAPELLE, A
    [J]. CELL, 1995, 82 (06) : 959 - 968
  • [4] Evidence that Sry is expressed in pre-Sertoli cells and Sertoli and granulosa cells have a common precursor
    Albrecht, KH
    Eicher, EM
    [J]. DEVELOPMENTAL BIOLOGY, 2001, 240 (01) : 92 - 107
  • [5] Allingham-Hawkins SJ, 1999, AM J MED GENET, V83, P322, DOI 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO
  • [6] 2-B
  • [7] Alvarez-Nava F, 2001, ANN GENET-PARIS, V44, P155
  • [8] ARMENDARES S, 1973, CLIN GENET, V4, P291
  • [9] Donor splice-site mutations in WT1 are responsible for Frasier syndrome
    Barbaux, S
    Niaudet, P
    Gubler, MC
    Grunfeld, JP
    Jaubert, F
    Kuttenn, F
    Fekete, CN
    SouleyreauTherville, N
    Thibaud, E
    Fellous, M
    McElreavey, K
    [J]. NATURE GENETICS, 1997, 17 (04) : 467 - 470
  • [10] A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL
    BARDONI, B
    ZANARIA, E
    GUIOLI, S
    FLORIDIA, G
    WORLEY, KC
    TONINI, G
    FERRANTE, E
    CHIUMELLO, G
    MCCABE, ERB
    FRACCARO, M
    ZUFFARDI, O
    CAMERINO, G
    [J]. NATURE GENETICS, 1994, 7 (04) : 497 - 501