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An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met. With a focus on mothers as primary caregivers, Interpretive Phenomenological Analysis was used to analyse semi-structured interviews with eight mothers of children with DSD about their experiences of support. Four master themes emerged which encapsulated the stages in their child’s development when mothers most needed support, the importance of developing an understanding of the child’s condition, the lack of an acknowledgement of the emotional needs of the parent, and the importance of having close and trusted networks for support. Continuity and availability of support were considered important and while all participants prioritised maintaining privacy about the condition, a minority felt that this impacted on the level of support they received. Key periods of time for support were identified and while some felt that they were well supported others felt that their support did not meet their emotional needs. The results were discussed in light of previous research, and the clinical implications considered.

In the B6.YTIR mouse strain, half of the XY progeny develop bilateral ovaries and the female phenotype. These XY females are infertile mainly due to the death of their embryos. This developmental failure has been attributed to a defect intrinsic to the XY oocyte. / The present study examined the transcriptional activity of the X and Y chromosomes in these oocytes. RT-PCR results show that the Ube1y gene is transcribed in the XY ovary at all stages examined and also in growing XY oocytes. The Sry gene was transcribed only at the onset of ovarian differentiation whereas the Zfy gene was undetectable at all stages during fetal life. The Xist gene, which is involved in X inactivation, was not expressed in XY oocytes. We speculate that expression of Y-encoded genes may have a deleterious effect on the quality of the oocytes and thus renders them incompetent for post-fertilization development.