Searchable abstracts of presentations at key conferences in endocrinology

ea0032p339 | Developmental Endocrinology | ECE2013

The prevalence, incidence and diagnostic delay in 46,XY females; a Danish national cohort study

Berglund Agnethe , Stochholm Kirstine , Fedder Jens , Hojbjerg Gravholt Claus

Introduction: Disorders of sex development where females have a 46,XY karyotype can be seen. Main reasons for this are the conditions of androgen insensitivity syndrome (AIS) and gonadal dysgenesis. The clinical phenotype of both conditions is variable and can present from an undervirilized or infertile male to an individual with ambiguous genitalia at birth, to a pure female phenotype with unambiguous genitalia, who first present in adolescence with primary amenorrhoea and/or...