Intersex Disorders


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

Figure 1.

onadal sex differentiation. The genes listed have been identified in humans and mice as being involved in gonadal development.

Figure 2.

Male sex determination. The diagram shows the development of the male reproductive system. AMH: anti‐Müllerian hormone.

Figure 3.

Hormonal and genetic causes of male pseudohermaphroditism. ATR‐X: X‐linked α‐thalassemia mental retardation; DSS: dosage‐sensitive sex reversal; HSD: hydroxysteroid dehydrogenase; WAGR: Wilms tumor, aniridia, genital malformations and mental retardation.

Figure 4.

Pathways of normal adrenal and gonadal steroidogenesis.



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Web Links

anti‐Müllerian hormone (AMH); LocusID: 268. LocusLink:

nuclear receptor subfamily 0, group B, member 1 (NR0B1); LocusID: 190. LocusLink:

nuclear receptor subfamily 5, group A, member 1; (NR5A1); LocusID: 2516. LocusLink:

SRY (sex determining region Y)‐box 9 (SOX9); LocusID: 6662. LocusLink:

sex determining region Y (SRY); LocusID: 6736. LocusLink:

Wilms tumor 1 (WT1); LocusID: 7490. LocusLink:

anti‐Müllerian hormone (AMH); MIM number: 600957. OMIM:‐post/Omim/dispmim?600957

nuclear receptor subfamily 0, group B, member 1 (NR0B1); MIM number: 300200. OMIM:‐post/Omim/dispmim?300200

nuclear receptor subfamily 5, group A, member 1; (NR5A1); MIM number: 184757. OMIM:‐post/Omim/dispmim?184757

SRY (sex determining region Y)‐box 9 (SOX9); MIM number: 114290. OMIM:‐post/Omim/dispmim?114290

sex determining region Y (SRY); MIM number: 480000. OMIM:‐post/Omim/dispmim?480000

Wilms tumor 1 (WT1); MIM number: 194070. OMIM:‐post/Omim/dispmim?194070

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How to Cite close
Sarafoglou, Kyriakie(Jan 2006) Intersex Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005508]