Vilka diagnoser är aktuella?
Lista enligt eUROGEN
Complex genital reconstructions (DSDs)
Metabolic disorder
(e.g. steroid synthesis disorder in Congenital Adrenal Hyperplasia (CAH); 5-alpha reductase deficiency; androgen synthesis disorder).Kongenital binjurebarkshyperplasi
Androgen receptor disorder: Androgen Insensitivity Syndrome (complete (CAIS) and partial (PAIS). Androgenkänslighetssyndromet
Gonadal development disorders (e.g. complete gonadal dysgenesis (CGD); partial gonadal dysgenesis (PGD); ovotesticular DSD).
Chromosomal aberrations (e.g. Turner syndrome; sex chromosomal mosaicism).kromosomavvikelser
46,XX disorder of sex development induced by fetal androgens excess ORPHA:90776
46,XY disorder of sex development ORPHA:98085
Lista enligt Endo-ERN
Sex Development & Maturation (MTG7) Könsutvecklingsstörningar
DSD
IHH
Gender dysphoria
Turners
Disorder of sex development ORPHA:90771
Congenital hypogonadotropic hypogonadism ORPHA:174590
Congenital adrenal hyperplasia ORPHA:418