[Congenital virilizing adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Study of eleven cases (author's transl)].
Eleven cases of congenital virilizing adrenal hyperplasia are studied. This study leads to point out some peculiar characteristics: virilization of external genitalia in girls is most usually important; arterial hypertension is delayed, usually after some years; plasma androgens and desoxycortisol are highly elevated; plasma 17-hydroxyprogesterone is slightly elevated and this may be misleading; good results of treatment which must preferably use hydrocortisone since plasma cortisol is sometimes low; long-term risks in treated children include chronic hypertension in both sexes, advanced puberty in girls and pubertal gynecomastia in boys.
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D000728:Androgens / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003350:Cortodoxone / Q000097:blood; D005260:Female; D006177:Gynecomastia / Q000209:etiology; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006908:Hydroxyprogesterones / Q000097:blood; D006973:Hypertension / Q000209:etiology; D007223:Infant; D008297:Male; D011629:Puberty, Precocious / Q000209:etiology; D013250:Steroid Hydroxylases / Q000172:deficiency*; D014770:Virilism / Q000209:etiology*
D000728:Androgens; D006908:Hydroxyprogesterones; D013250:Steroid Hydroxylases; D003350:Cortodoxone; D006854:Hydrocortisone
L'hyperplasie congénitale virilisante des surrénales par déficit en 11 bêta-hydroxylase.