open access

Vol 59, No 6 (2008)
Review article
Published online: 2008-10-30
Submitted: 2013-02-15
Get Citation

Genetic background of sex determination and gonadal development disorders

Rafał Piotr Piprek
Endokrynologia Polska 2008;59(6):502-514.

open access

Vol 59, No 6 (2008)
Review article
Published online: 2008-10-30
Submitted: 2013-02-15

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.
Get Citation

Keywords

sex determination; gonadal development; hermaphroditism; sex reversal; SRY

About this article
Title

Genetic background of sex determination and gonadal development disorders

Journal

Endokrynologia Polska

Issue

Vol 59, No 6 (2008)

Pages

502-514

Published online

2008-10-30

Bibliographic record

Endokrynologia Polska 2008;59(6):502-514.

Keywords

sex determination
gonadal development
hermaphroditism
sex reversal
SRY

Authors

Rafał Piotr Piprek

Important: This website uses cookies.tanya dokter More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Via MedicaWydawcą serwisu jest  "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl