ESPE Abstracts

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: Partial androgen insensitivity syndromes (PAIS) are rare 46,XY DSD (disorder of sex development).Objective and hypotheses: Three families with PAIS (six patients) are reported, focusing on their phenotype and treatment depending on sex of rearing. Biological investigations and surgical management are described.Method: Between 2009 and 2015 a consultation for uro-genital malformations in pediatric patients was set up in ...