Intersex Disorders
Kyriakie Sarafoglou, New York Presbyterian Hospital, Weill Medical College of Cornell University, New York, USA
Published online: January 2006
DOI: 10.1038/npg.els.0005508
Abstract
Human intersex conditions arise during the complex developmental processes of sexual determination and differentiation resulting
in discordance between genetic sex, gonadal sex and sexual phenotype. In humans and other mammals, a regulatory cascade of
sex‐linked and autosomal genes determines sex. Contingent on the gene mutation, a remarkable range of possible phenotypes
are seen, including sex‐reversed females and sex‐reversed males.
Keywords: intersex; sex‐determining region Y; pseudohermaphroditism; congenital adrenal hyperplasia; dysgenesis
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Web Links
anti‐Müllerian hormone (AMH); LocusID: 268. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=268
nuclear receptor subfamily 0, group B, member 1 (NR0B1); LocusID: 190. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=190
nuclear receptor subfamily 5, group A, member 1; (NR5A1); LocusID: 2516. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2516
SRY (sex determining region Y)‐box 9 (SOX9); LocusID: 6662. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6662
sex determining region Y (SRY); LocusID: 6736. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6736
Wilms tumor 1 (WT1); LocusID: 7490. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7490
anti‐Müllerian hormone (AMH); MIM number: 600957. OMIM:
http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?600957
nuclear receptor subfamily 0, group B, member 1 (NR0B1); MIM number: 300200. OMIM:
http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300200
nuclear receptor subfamily 5, group A, member 1; (NR5A1); MIM number: 184757. OMIM:
http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?184757
SRY (sex determining region Y)‐box 9 (SOX9); MIM number: 114290. OMIM:
http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?114290
sex determining region Y (SRY); MIM number: 480000. OMIM:
http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?480000
Wilms tumor 1 (WT1); MIM number: 194070. OMIM:
http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?194070
