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
References
Belville C,
Josso N and
Picard JY
(1999)
Persistence of Müllerian derivatives in males.
American Journal of Medical Genetics
89: 218–223.
Cameron FJ and
Sinclair AH
(1997)
Mutations in SRY and SOX9 testis‐determining genes.
Human Mutation
9: 388–395.
Goodfellow PN and
Camerino G
(1999)
DAX‐1 and ‘antitestis’ gene.
Cellular and Molecular Life Sciences
55: 857–863.
Lovell‐Badge R,
Canning C and
Sekido R
(2002)
Sex determining genes in mice: building pathways.
In:
Chadwick and
Goode (eds.)
The Genetics and Biology of sex Determination.
New York: John Wiley.
McElreavey K and
Fellous M
(1999)
Sex determination and the Y chromosome.
American Journal of Medical Genetics
89: 176–185.
New MI and
Ghizzoni L
(2001)
An update of congenital adrenal hyperplasia.
In:
Lifshitz F (ed.)
Pediatric Endocrinology: A Clinical Guide,
4th edn.
New York: Marcel Dekker.
Ortenberg J,
Ostrer H and
Sarafoglou K
(2002)
SRY gene expression in the ovotestes of XX true hermaphrodites.
Journal of Urology
167(4): 1828–1831.
Parker KL and
Schimmer BP
(1997)
Steroidogenic factor 1: a key determinant of endocrine development and function.
Endocrine Reviews
18: 361–377.
Sarafoglou K and
Ostrer H
(2000)
Familial sex reversal: a review.
Journal of Clinical Endocrinology and Metabolism
85: 483–493.
Sinclair AH,
Berta P,
Palmer MS, et al.
(1990).
A gene from the human sex‐determining region encodes a protein with homology to a conserved DNA‐binding motif.
Nature
346: 240–244.
Vilain E and
McCabe ERB
(1998)
Mammalian sex determination: from gonads to brain.
Molecular Genetics and Metabolism
65: 74–84.
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