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46,XY difference of sex development due to isolated 17,20-lyase deficiency
Disease definition
A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
ORPHA:90796
Classification level: DisorderA summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Français (2023)
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