ea0032p339 | Developmental Endocrinology | ECE2013
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...