ESPE Abstracts (2014) 82 WG3.4

Detailed Phenotyping of DSD: External Virilisation

Michelle Welsh

University of Glasgow, Glasgow, UK

Background: During fetal development, the reproductive tissues of a male and female are initially identical until around 7 weeks of gestation. At this point, chromosomal sex dictates the development of a testis or ovary which in turn drives phenotypic sex of the individual. This involves a pre-programmed series of events which results in the differentiation of the indifferent reproductive tissues into sex-specific organs. The brain must also undergo sex-specific development which may in turn influence gender identity. However, research suggests that this may rely on different signals and may be controlled at different times of development.

The sex-specific development of the external genitalia is immediately apparent at birth and is thus commonly used to identify and diagnose individuals with possible disorders of sex development (DSD). Atypical genitalia that may point towards a DSD occur in about 1:300 births. These may present with ambiguous genitalia or with genitalia which have not developed along the typical male or female pathway, presenting as hypospadias or cliteromegaly. There are many steps in typical sex development, of which any one can be impaired in DSDs, therefore correct diagnosis and clinical management of esthese individuals requires an understanding of typical sex development to ensure a high quality of life.

Objective and Hypotheses: The process of typical sex development and how this can be altered in DSDs will be discussed in this presentation. Furthermore, recent research suggests that measuring anogenital distance (AGD) could provide a life-long readout of androgen action during masculinization and therefore provide new insights into androgen action during this previously ‘hidden’ period of development. The clinical implications of this will also be discussed.

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