Splenogonadal fusion is a rare congenital malformation where an abnormal union occurs between the spleen and gonad or mesonephric derivatives. Although it occurs in females it is much less prevalent than in males (male:female ratio, 16:1), but this may partly be because of the inaccessibility of the female gonads leading to under-diagnosis. To our knowledge this is the first case of splenogonad...

A variety of mechanisms are engaged in sex determination in vertebrates. The teleost fish swamp eel undergoes sex reversal naturally and is an ideal model for vertebrate sexual development. However, the importance of proteome-wide scanning for gonad reversal was not previously determined. We report a 2-D electrophoresis analysis of three gonad types of proteomes during sex reversal. MS/MS analy...

We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome ...

The sexual plasticity of the gonads is not retained after the completion of sex differentiation in vertebrates, except in some hermaphroditic species. Here, we report that the depletion of estradiol-17β (E2) by aromatase inhibitors (AI) for up to six months resulted in a functional female-to-male sex reversal in sexually-mature adults of two gonochoristic fish species, Nile tilapia and medaka. ...

The heterogametic sex chromosomes (i.e. mammalian Y and avian W) do not usually recombine with the homogametic sex chromosomes which is known to lead into rapid degeneration of Y and W due to accumulation of deleterious mutations. On the other hand, some 96% of amphibian species have homomorphic, i.e. non-degenerate Y chromosomes. Nicolas Perrin's fountain-of-youth hypothesis states that this i...

Disorders of sex development in the human population range in severity from mild genital defects to gonadal sex reversal. XY female development has been associated with heterozygous mutations in several genes, including SOX9, WT1 and MAP3K1. In contrast, XY sex reversal in mice usually requires complete absence of testis-determining gene products. One exception to this involves T-associated sex...