The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Gonadal Dysgenesis

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Gonadal Dysgenesis


High impact information on Gonadal Dysgenesis

  • Thus, LHX9 mutations may underlie certain forms of isolated gonadal agenesis in humans [6].
  • We have now identified a mutation in SRY in one out of 12 sex-inversed XY females with gonadal dysgenesis who do not lack large segments of the short arm of the Y chromosome [7].
  • We have analysed the biochemical properties of the DNA binding domains (HMG-boxes) of mutant SRY proteins from five patients with complete gonadal dysgenesis [8].
  • In conclusion, secretion of AMH is a constitutive feature of the immature Sertoli cell and its expression is altered only by mutations of the AMH gene, but not by gonadal dysgenesis [9].
  • We now describe a novel 8-bp microdeletion of SF-1, isolated from a 46, XY patient who presented with gonadal agenesis but normal adrenal function, which causes premature termination upstream of sequences encoding the activation function 2 domain [10].

Chemical compound and disease context of Gonadal Dysgenesis


Biological context of Gonadal Dysgenesis


Anatomical context of Gonadal Dysgenesis


Gene context of Gonadal Dysgenesis


Analytical, diagnostic and therapeutic context of Gonadal Dysgenesis


  1. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Little, M.H., Williamson, K.A., Mannens, M., Kelsey, A., Gosden, C., Hastie, N.D., van Heyningen, V. Hum. Mol. Genet. (1993) [Pubmed]
  2. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Klamt, B., Koziell, A., Poulat, F., Wieacker, P., Scambler, P., Berta, P., Gessler, M. Hum. Mol. Genet. (1998) [Pubmed]
  3. The Wilms' tumour protein (WT1) shuttles between nucleus and cytoplasm and is present in functional polysomes. Niksic, M., Slight, J., Sanford, J.R., Caceres, J.F., Hastie, N.D. Hum. Mol. Genet. (2004) [Pubmed]
  4. WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. Yang, Y., Jeanpierre, C., Dressler, G.R., Lacoste, M., Niaudet, P., Gubler, M.C. Am. J. Pathol. (1999) [Pubmed]
  5. A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. Zeng, Y.T., Ren, Z.R., Zhang, M.L., Huang, Y., Zeng, F.Y., Huang, S.Z. J. Med. Genet. (1993) [Pubmed]
  6. The LIM homeobox gene Lhx9 is essential for mouse gonad formation. Birk, O.S., Casiano, D.E., Wassif, C.A., Cogliati, T., Zhao, L., Zhao, Y., Grinberg, A., Huang, S., Kreidberg, J.A., Parker, K.L., Porter, F.D., Westphal, H. Nature (2000) [Pubmed]
  7. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Jäger, R.J., Anvret, M., Hall, K., Scherer, G. Nature (1990) [Pubmed]
  8. Sex-reversing mutations affect the architecture of SRY-DNA complexes. Pontiggia, A., Rimini, R., Harley, V.R., Goodfellow, P.N., Lovell-Badge, R., Bianchi, M.E. EMBO J. (1994) [Pubmed]
  9. Testicular dysgenesis does not affect expression of anti-müllerian hormone by Sertoli cells in premeiotic seminiferous tubules. Rey, R., al-Attar, L., Louis, F., Jaubert, F., Barbet, P., Nihoul-Fékété, C., Chaussain, J.L., Josso, N. Am. J. Pathol. (1996) [Pubmed]
  10. A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. Correa, R.V., Domenice, S., Bingham, N.C., Billerbeck, A.E., Rainey, W.E., Parker, K.L., Mendonca, B.B. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  11. Somatomedin-C levels in children and adolescents with gonadal dysgenesis: differences from age-matched normal females and effect of chronic estrogen replacement therapy. Cuttler, L., Van Vliet, G., Conte, F.A., Kaplan, S.L., Grumbach, M.M. J. Clin. Endocrinol. Metab. (1985) [Pubmed]
  12. Lack of correlation between gonadotropin and adrenal androgen levels in agonadal children. Lee, P.A., Kowarski, A., Migeon, C.J., Blizzard, R.M. J. Clin. Endocrinol. Metab. (1975) [Pubmed]
  13. Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement. Rey, R.A., Belville, C., Nihoul-Fékété, C., Michel-Calemard, L., Forest, M.G., Lahlou, N., Jaubert, F., Mowszowicz, I., David, M., Saka, N., Bouvattier, C., Bertrand, A.M., Lecointre, C., Soskin, S., Cabrol, S., Crosnier, H., Léger, J., Lortat-Jacob, S., Nicolino, M., Rabl, W., Toledo, S.P., Baş, F., Gompel, A., Czernichow, P., Josso, N. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  14. Modulation of serum follicle-stimulating hormone bioactivity and isoform distribution by estrogenic steroids in normal women and in gonadal dysgenesis. Padmanabhan, V., Lang, L.L., Sonstein, J., Kelch, R.P., Beitins, I.Z. J. Clin. Endocrinol. Metab. (1988) [Pubmed]
  15. Plasma glycoprotein hormone alpha-subunit in the syndrome of gonadal dysgenesis: the effect of estrogen replacement in hypergonadotropic hypogonadism. Styne, D.M., Conte, F.A., Grumbach, M.M., Kaplan, S.L. J. Clin. Endocrinol. Metab. (1980) [Pubmed]
  16. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Affara, N.A., Chalmers, I.J., Ferguson-Smith, M.A. Hum. Mol. Genet. (1993) [Pubmed]
  17. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Salo, P., Kääriäinen, H., Petrovic, V., Peltomäki, P., Page, D.C., de la Chapelle, A. Genes Chromosomes Cancer (1995) [Pubmed]
  18. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. Assumpção, J.G., Benedetti, C.E., Maciel-Guerra, A.T., Guerra, G., Baptista, M.T., Scolfaro, M.R., de Mello, M.P. J. Mol. Med. (2002) [Pubmed]
  19. XY sex reversal associated with a nonsense mutation in SRY. McElreavey, K.D., Vilain, E., Boucekkine, C., Vidaud, M., Jaubert, F., Richaud, F., Fellous, M. Genomics (1992) [Pubmed]
  20. Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. Damiani, D., Billerbeck, A.E., Goldberg, A.C., Setian, N., Fellous, M., Kalil, J. Hum. Genet. (1990) [Pubmed]
  21. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. McElreavey, K., Vilain, E., Barbaux, S., Fuqua, J.S., Fechner, P.Y., Souleyreau, N., Doco-Fenzy, M., Gabriel, R., Quereux, C., Fellous, M., Berkovitz, G.D. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  22. An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. Melo, K.F., Martin, R.M., Costa, E.M., Carvalho, F.M., Jorge, A.A., Arnhold, I.J., Mendonca, B.B. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  23. Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis. Pivnick, E.K., Wachtel, S., Woods, D., Simpson, J.L., Bishop, C.E. Hum. Genet. (1992) [Pubmed]
  24. XY gonadal dysgenesis in three siblings. Phansey, S.A., Satterfield, R., Jorgenson, R.J., Salinas, C.F., Yoder, F.E., Mathur, R.S., Williamson, H.O. Am. J. Obstet. Gynecol. (1980) [Pubmed]
  25. Endometrial response to estrogen and progesterone therapy in patients with gonadal dysgenesis. Benjamin, I., Block, R.E. Obstetrics and gynecology. (1977) [Pubmed]
  26. Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis. Ottolenghi, C., Moreira-Filho, C., Mendonça, B.B., Barbieri, M., Fellous, M., Berkovitz, G.D., McElreavey, K. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  27. Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. Lim, H.N., Berkovitz, G.D., Hughes, I.A., Hawkins, J.R. Hum. Genet. (2000) [Pubmed]
  28. Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome. Krause, A., Sinnecker, G.H., Hiort, O., Thamm, B., Hoepffner, W. Exp. Clin. Endocrinol. Diabetes (2004) [Pubmed]
  29. The molecular action of testis-determining factors SRY and SOX9. Harley, V.R. Novartis Found. Symp. (2002) [Pubmed]
  30. Anomalies of human sexual development: clinical aspects and genetic analysis. Vilain, E. Novartis Found. Symp. (2002) [Pubmed]
  31. Replacement hormone therapy in gonadal dysgenesis. Dewhurst, C.J., de Koos, E.B., Haines, R.M. British journal of obstetrics and gynaecology. (1975) [Pubmed]
  32. Rapid increase in lumbar spine bone density in osteopenic women by high-dose intramuscular estrogen-progestogen injections. A preliminary report. Ulrich, U., Pfeifer, T., Lauritzen, C. Horm. Metab. Res. (1994) [Pubmed]
  33. Molecular biology of disorders of sex differentiation. Sultan, C., Lobaccaro, J.M., Belon, C., Terraza, A., Lumbroso, S. Horm. Res. (1992) [Pubmed]
  34. Establishment of pregnancy after embryo transfer in mares with gonadal dysgenesis. Hinrichs, K., Riera, F.L., Klunder, L.R. Journal of in vitro fertilization and embryo transfer : IVF. (1989) [Pubmed]
  35. Y chromosome analysis and laparoscopic surgery in XY pure gonadal dysgenesis: a case report and a review of literature. Tsutsumi, O., Iida, T., Hakuno, N., Sadatsuki, M., Okai, T., Taketani, Y., Nagafuchi, S., Nakahori, Y. Asia-Oceania journal of obstetrics and gynaecology / AOFOG. (1993) [Pubmed]
WikiGenes - Universities