ESPE Abstracts

Introduction: The umbrella term disorders of sex development (DSD) encompass a conglomerate of different genetic conditions affecting gonadal and adrenal function. Access to specialized health care and dissatisfaction with medical and psychosocial care is an issue for many adult patients. However, it is not evident which type of health care meets the needs of care seekers with DSD.Patients and methods: The European multidisciplinary outcome study dsd-LIF...

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: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been summarized as disorders of sex development (DSD). Included in DSD are conditions with diverse genetic etiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. Studies addressing these issues...

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

Background: 49,XY gonadal dysgenesis (GD) is a very rare disorder of testes development with an incidence of 1:50–100 000. MAP3K1 is a MAPK that mainly regulates the MAPK pathways. High Map3k1 expression was found in female and male mice gonads at 13.5 dpc. In 2010, MAP3K1 mutations were identified in two families with complete and partial XY GD and in two unrelated sporadic cases with complete XY GD (Pearlman 2010 AJMG). Recently, four additional mutations (four out of 4...

Introduction: The diagnosis of a disorder/difference of sexual development (dsd) is an exceptional psychosocial situation. As the diagnosis is often made in childhood, the parents are the primary communication partners. In some cases, the impossibility of immediate sex determination of the child can be a traumatic experience with a negative impact on the relationship between the parents and the child, the couple and members of the entire family. It has been recommended by the ...

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. In 2013 the study protocol and the online d...

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...