Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.
The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of testicular feminization should not be made without excluding a defect of testosterone synthesis.
D000308:Adrenocortical Hyperfunction / Q000175:diagnosis*; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis; D002369:Castration; D002675:Child, Preschool; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D006728:Hormones / Q000032:analysis; D006801:Humans; D008297:Male; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013739:Testosterone / Q000096:biosynthesis
D006728:Hormones; D013739:Testosterone; D013250:Steroid Hydroxylases