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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Genitalia


Psychiatry related information on Genitalia


High impact information on Genitalia

  • Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia [9].
  • Expression analyses showed high levels of Irf6 mRNA along the medial edge of the fusing palate, tooth buds, hair follicles, genitalia and skin [9].
  • Congenital malformations of the genitalia were reported three times as often by the diethylstilbestrol-exposed men as by the sons of the women in the placebo group [10].
  • Long duration androgen treatments masculinized both behavior and genitalia suggesting that socializing responses to the females' male-like appearance may have produced the behavioral changes [11].
  • In a third family, the external genitalia were predominantly male at birth, and sex-of-rearing has been male: their codon 839 has mutated to cysteine [12].

Chemical compound and disease context of Genitalia


Biological context of Genitalia


Anatomical context of Genitalia

  • Nuclear transfer of androgen receptors (AR) and glucocorticoid receptors (GR) was determined in cultured genital skin fibroblasts from 10 normal controls and eight patients with abnormalities of the external genitalia [23].
  • Loss of both spalt and spalt-related function in flies yields morphological defects in the testes, genitalia, and the antenna [24].
  • X-linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome responsible for a severe neurological disorder of neonatal onset in boys [25].
  • We have studied the function of Abdominal-B in the formation of Drosophila genitalia, and show here that absence of Abdominal-B in the genital disc of Drosophila transforms male and female genitalia into leg or, less frequently, into antenna [26].
  • The MK gene was, therefore, widely expressed in neoplastic cells originating from genital organs, intestinal tract, liver, mammary gland, and urinary tract, and the expression was not restricted to adenocarcinomas, but was also observed in other types of tumor cells [27].

Associations of Genitalia with chemical compounds


Gene context of Genitalia


Analytical, diagnostic and therapeutic context of Genitalia


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  2. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. New, M.I., Wilson, R.C. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  3. Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. Lim, H.N., Chen, H., McBride, S., Dunning, A.M., Nixon, R.M., Hughes, I.A., Hawkins, J.R. Hum. Mol. Genet. (2000) [Pubmed]
  4. Induction of invasive carcinomas in the accessory sex organs other than the ventral prostate of rats given 3,2'-dimethyl-4-aminobiphenyl and testosterone propionate. Shirai, T., Tamano, S., Kato, T., Iwasaki, S., Takahashi, S., Ito, N. Cancer Res. (1991) [Pubmed]
  5. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. Kontaridis, M.I., Swanson, K.D., David, F.S., Barford, D., Neel, B.G. J. Biol. Chem. (2006) [Pubmed]
  6. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. Telvi, L., Ion, A., Carel, J.C., Desguerre, I., Piraud, M., Boutin, A.M., Feingold, J., Ponsot, G., Fellous, M., McElreavey, K. J. Med. Genet. (1996) [Pubmed]
  7. lingerer, a Drosophila gene involved in initiation and termination of copulation, encodes a set of novel cytoplasmic proteins. Kuniyoshi, H., Baba, K., Ueda, R., Kondo, S., Awano, W., Juni, N., Yamamoto, D. Genetics (2002) [Pubmed]
  8. Critical period of induction by tamoxifen of genital organ abnormalities in female mice. Irisawa, S., Iguchi, T. In Vivo (1990) [Pubmed]
  9. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo, S., Schutte, B.C., Richardson, R.J., Bjork, B.C., Knight, A.S., Watanabe, Y., Howard, E., de Lima, R.L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D.M., Zackai, E.H., Lammer, E.J., Aylsworth, A.S., Ardinger, H.H., Lidral, A.C., Pober, B.R., Moreno, L., Arcos-Burgos, M., Valencia, C., Houdayer, C., Bahuau, M., Moretti-Ferreira, D., Richieri-Costa, A., Dixon, M.J., Murray, J.C. Nat. Genet. (2002) [Pubmed]
  10. Fertility in men exposed prenatally to diethylstilbestrol. Wilcox, A.J., Baird, D.D., Weinberg, C.R., Hornsby, P.P., Herbst, A.L. N. Engl. J. Med. (1995) [Pubmed]
  11. Hormonal influences on sexually differentiated behavior in nonhuman primates. Wallen, K. Frontiers in neuroendocrinology. (2005) [Pubmed]
  12. Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. Beitel, L.K., Kazemi-Esfarjani, P., Kaufman, M., Lumbroso, R., DiGeorge, A.M., Killinger, D.W., Trifiro, M.A., Pinsky, L. J. Clin. Invest. (1994) [Pubmed]
  13. Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor. Pinsky, L., Kaufman, M., Killinger, D.W., Burko, B., Shatz, D., Volpé, R. Am. J. Hum. Genet. (1984) [Pubmed]
  14. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). Moghrabi, N., Hughes, I.A., Dunaif, A., Andersson, S. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  15. Genetic and hormonal control of male sexual differentiation. Goldstein, J.L., Wilson, J.D. J. Cell. Physiol. (1975) [Pubmed]
  16. Genotoxicity of zearalenone, an estrogenic mycotoxin: DNA adduct formation in female mouse tissues. Pfohl-Leszkowicz, A., Chekir-Ghedira, L., Bacha, H. Carcinogenesis (1995) [Pubmed]
  17. Failure of 2-deoxy-D-glucose in the treatment of experimental cutaneous and genital infections due to herpes simplex virus. Kern, E.R., Glasgow, L.A., Klein, R.J., Friedman-Kien, A.E. J. Infect. Dis. (1982) [Pubmed]
  18. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Huang, N., Pandey, A.V., Agrawal, V., Reardon, W., Lapunzina, P.D., Mowat, D., Jabs, E.W., Van Vliet, G., Sack, J., Flück, C.E., Miller, W.L. Am. J. Hum. Genet. (2005) [Pubmed]
  19. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Hawkins, J.R., Taylor, A., Goodfellow, P.N., Migeon, C.J., Smith, K.D., Berkovitz, G.D. Am. J. Hum. Genet. (1992) [Pubmed]
  20. The Y-chromosomal and autosomal testis-determining genes. de la Chapelle, A. Development (1987) [Pubmed]
  21. Requirement of Abdominal-A and Abdominal-B in the developing genitalia of Drosophila breaks the posterior downregulation rule. Foronda, D., Estrada, B., de Navas, L., Sánchez-Herrero, E. Development (2006) [Pubmed]
  22. Male sex determination: current concepts of male sexual differentiation. Gustafson, M.L., Donahoe, P.K. Annu. Rev. Med. (1994) [Pubmed]
  23. Defective nuclear accumulation of androgen receptors in disorders of sexual differentiation. Gyorki, S., Warne, G.L., Khalid, B.A., Funder, J.W. J. Clin. Invest. (1983) [Pubmed]
  24. Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. Dong, P.D., Todi, S.V., Eberl, D.F., Boekhoff-Falk, G. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  25. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Bonneau, D., Toutain, A., Laquerrière, A., Marret, S., Saugier-Veber, P., Barthez, M.A., Radi, S., Biran-Mucignat, V., Rodriguez, D., Gélot, A. Ann. Neurol. (2002) [Pubmed]
  26. The Hox gene Abdominal-B antagonizes appendage development in the genital disc of Drosophila. Estrada, B., Sánchez-Herrero, E. Development (2001) [Pubmed]
  27. A retinoid responsive cytokine gene, MK, is preferentially expressed in the proximal tubules of the kidney and human tumor cell lines. Kitamura, M., Shirasawa, T., Mitarai, T., Muramatsu, T., Maruyama, N. Am. J. Pathol. (1993) [Pubmed]
  28. Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia. Schneider, G., Genel, M., Bongiovanni, A.M., Goldman, A.S., Rosenfield, R.L. J. Clin. Invest. (1975) [Pubmed]
  29. Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. Ong, Y.C., Wong, H.B., Adaikan, G., Yong, E.L. Lancet (1999) [Pubmed]
  30. Ambiguous genitalia in infant exposed to tamoxifen in utero. Tewari, K., Bonebrake, R.G., Asrat, T., Shanberg, A.M. Lancet (1997) [Pubmed]
  31. The arachidonic acid cascade is involved in the masculinizing action of testosterone on embryonic external genitalia in mice. Gupta, C., Goldman, A.S. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  32. Unique functions of Sonic hedgehog signaling during external genitalia development. Haraguchi, R., Mo, R., Hui, C., Motoyama, J., Makino, S., Shiroishi, T., Gaffield, W., Yamada, G. Development (2001) [Pubmed]
  33. Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Haraguchi, R., Suzuki, K., Murakami, R., Sakai, M., Kamikawa, M., Kengaku, M., Sekine, K., Kawano, H., Kato, S., Ueno, N., Yamada, G. Development (2000) [Pubmed]
  34. The Drosophila sex determination hierarchy modulates wingless and decapentaplegic signaling to deploy dachshund sex-specifically in the genital imaginal disc. Keisman, E.L., Baker, B.S. Development (2001) [Pubmed]
  35. Comparative antitumor effects of hormonal ablation, estrogen agonist, estrogen cytotoxic derivative, and antiestrogen in the PAIII rat prostatic adenocarcinoma. Neubauer, B.L., Best, K.L., Goode, R.L., Heiman, M.L., Hoover, D.M., Robertson, D.W., Sarosdy, M.F., Shaar, C.J., Tanzer, L.R., Merriman, R.L. Cancer Res. (1992) [Pubmed]
  36. A direct effect of medroxyprogesterone acetate on 17 beta-hydroxysteroid dehydrogenase in adult rat testis. Satyaswaroop, P.G., Gurpide, E. Endocrinology (1978) [Pubmed]
  37. Nuclear accumulation of androgens in perfused rat accessory sex organs and testes. Baker, H.W., Bailey, D.J., Feil, P.D., Jefferson, L.S., Santen, R.J., Bardin, C.W. Endocrinology (1977) [Pubmed]
  38. Immunohistochemical demonstration of carcinogen-DNA adducts in target and non-target tissues of rats given a prostate carcinogen, 3,2'-dimethyl-4-aminobiphenyl. Shirai, T., Nakamura, A., Fukushima, S., Tada, M., Morita, T., Ito, N. Carcinogenesis (1990) [Pubmed]
  39. Proliferative response of rat accessory sex organs to dietary sex hormones after castration or initial dietary administration of estrogen. Shirai, T., Ikawa, E., Imaida, K., Tagawa, Y., Ito, N. J. Urol. (1987) [Pubmed]
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