Vol 59, No 6 (2008)
Review paper
Submitted: 2013-02-15
Published online: 2008-10-30
Genetic background of sex determination and gonadal development disorders
Rafał Piotr Piprek
Endokrynol Pol 2008;59(6):502-514.
Vol 59, No 6 (2008)
Review Article
Submitted: 2013-02-15
Published online: 2008-10-30
Abstract
Intersexual disorders, the causes of which are frequently difficult to diagnose, usually result from the disruption of sex determination and
gonadal development or from impairment in function of endocrine organs such as gonads and adrenal glands. Thus consideration of
etiopatogenesis of intersexuality should be based on an analysis of the genetic control of sex determination, gonadal differentiation and
first of all molecular regulation of steroidogenic cell differentiation and functioning. These processes take place in the fetal gonads, which
explains the small amount of data concerning the development of human gonads. However, numerous investigations of gene expression
in murine gonads have revealed a complicated machinery involved in sex determination and gonadal differentiation. Moreover, data
obtained from mice have led to a better understanding of the molecular background of sex determination and gonad differentiation in
humans. Nevertheless, the interpretation of mouse gene knock-outs does not always reflect mutations of their homologues in man. This
article compares data in humans and mice, revealing the existence of many sex-determining genes in both, which should be taken into
consideration during the diagnosis of intersexual disorders. Mutations of some genes controlling murine gonad development have not
been described in humans so far. This indicates the necessity of conducting extensive genetic analysis of individuals with intersexual
disorders.
Abstract
Intersexual disorders, the causes of which are frequently difficult to diagnose, usually result from the disruption of sex determination and
gonadal development or from impairment in function of endocrine organs such as gonads and adrenal glands. Thus consideration of
etiopatogenesis of intersexuality should be based on an analysis of the genetic control of sex determination, gonadal differentiation and
first of all molecular regulation of steroidogenic cell differentiation and functioning. These processes take place in the fetal gonads, which
explains the small amount of data concerning the development of human gonads. However, numerous investigations of gene expression
in murine gonads have revealed a complicated machinery involved in sex determination and gonadal differentiation. Moreover, data
obtained from mice have led to a better understanding of the molecular background of sex determination and gonad differentiation in
humans. Nevertheless, the interpretation of mouse gene knock-outs does not always reflect mutations of their homologues in man. This
article compares data in humans and mice, revealing the existence of many sex-determining genes in both, which should be taken into
consideration during the diagnosis of intersexual disorders. Mutations of some genes controlling murine gonad development have not
been described in humans so far. This indicates the necessity of conducting extensive genetic analysis of individuals with intersexual
disorders.
Keywords
sex determination; gonadal development; hermaphroditism; sex reversal; SRY
Title
Genetic background of sex determination and gonadal development disorders
Journal
Endokrynologia Polska
Issue
Vol 59, No 6 (2008)
Article type
Review paper
Pages
502-514
Published online
2008-10-30
Page views
705
Article views/downloads
16516
Bibliographic record
Endokrynol Pol 2008;59(6):502-514.
Keywords
sex determination
gonadal development
hermaphroditism
sex reversal
SRY
Authors
Rafał Piotr Piprek
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