Natural Exceptions to Normal Gonad Development in Mammals

Gonads are the only organs with 2 possible developmental pathways, testis or ovary. A consequence of this unique feature is that mutations in genes controlling gonad development give rise not only to gonadal malformation or dysfunction but also to frequent cases of sex reversal, including XY females, XX males and intersexes. Most of our current knowledge on mammalian sex determination, the genetic process by which the gonadal primordia are committed to differentiate as either testes or ovaries, has derived mainly from the study of sex-reversed mice obtained by direct genetic manipulation. However, there are also numerous cases of natural exceptions to normal gonad development which have been described in a variety of mammals, including both domestic and wild species. Here, we review the most relevant cases of: (1) natural, non-induced sex reversal and intersexuality described in laboratory rodents, including Sxr and B6-Y-DOM mice; (2) sex reversal in domestic animals, including freemartinism in bovids and pigs, XX sex reversal in pigs, goats and dogs, XY sex reversal in the horse, and sex chromosome chimerism and sex reversal in the cat, and (3) sex reversal in wild mammals, including the generalised true hermaphroditism described in talpid moles, XY sex reversal in Akodon, Microtus and Dicrostonyx species, males lacking a Y chromosome and SRY in Ellobius lutescens, the X* chromosome of Myopus schisticolor, and sex chromosome mosaicism and X0 females in Microtus oregoni. These studies are necessary to elucidate particular aspects of mammalian gonad development in some instances and to understand how the genetic mechanisms controlling gonad development have evolved. Copyright (C) 2012 S. Karger AG, Basel