ESPE Abstracts

Steroidogenic factor-1 (SF-1, NR5A1) is a key regulator of adrenal and gonad development, and controls transcription of many genes in these endocrine axes. A role for SF-1/NR5A1 in human endocrine conditions was first established 15 years ago when rare individuals with adrenal hypoplasia and 46,XY DSD (testicular dysgenesis, Müllerian structures) were reported. Although it was felt that adrenal failure would be a key feature of SF-1 disruption, in the pa...

Data from urinary steroid metabolomics approach gave evidence that the ‘backdoor’ pathway might act as a source of androgen synthesis in CAH. Although the prenatal role of this pathway in CAH is unknown, the backdoor pathway could be involved in fetal androgen metabolism and could contribute to genital virilisation. The traditional concept of androgen synthesis in CAH postulates that androstenedione acts as a precursor of testosterone and dihydrotestosterone, and tha...

Prenatal treatment of CAH has been employed since the mid 1980’s, but long-term evaluation of this experimental treatment is scarce. In utero replacement with dexamethasone suppresses the fetal adrenal and reduces the androgens that virilise the female CAH fetus. The CAH girls are thus born with normal external genitalia and avoid early genital surgery. There is however an ethical dilemma, since the treatment with DEX has to be initiated early in gestation before...

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 wh...

Disorders of sex development present with a wide spectrum of phenotypic variations. The gonads, sex ducts and genitalia as well as the urinary system are must be evaluated to make a diagnosis and a plan for treatment or observation. Ultrasound stands out as the most versatile imaging modality. Investigation of the urinary tract, the uterus and the examination of normally developed gonads are possible. Perineal ultrasound provides additional information on the pelvic floor, the...

Background: Effective clinical care and research in disorders of sex development (DSD), as well as assessment of long-term outcome of these rare conditions, requires multicentre collaboration across national boundaries and across multiple clinical and research disciplines. This registry is currently funded by the UK MRC as the International DSD Registry (www.i-dsd.org) which adheres to the highest standards of data governance and security. Fr...

dsd-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (dsd). The multidisciplinary dsd-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology and ethics. The fields of investigation of dsd-LIFE are H...

Background: The European Programme on Cooperation of Science and Technology (COST) funds the formation of networking activities. These are especially favorable for research around rare diseases, because experts and scientists maybe at different centres and an international collaboration is needed.In November of 2013 the COST Action DSDnet was started. Currently 18 different European countries are participating and countries from all continents have voice...