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Summary
11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)
ADRENAL HYPERPLASIA VI STEROID 11 BETA-HYDROXYLASE DEFICIENCY
202010
OMIM = Online Medalian Inheritance of Men
90795
8q24.3
  • corticosteroids
  • dexamethasone
rare (1:100000)
autosomal recessive
symptoms
failure to thrive
genitalia, ambigous
growth retardation
gynecomastia
hypertension
masculinisation of the female
onset, infancy
onset, neonatal
renal failure, acute/chronic
virilisation
laboratory finding
11-beta-Hydroxylase 100.00decreased activityfibroblasts
11-Deoxycortisol increasedserum
11-Deoxycorticosterone increasedplasma
Tetrahydro-11-deoxycortisol0.000.00 increasedurineno data
Tetrahydro-11-deoxycorticosterone 0.000.00increasedurine
Adrenocorticotropic hormone (ACTH) 10.0020.00increasedplasma
Potassium 3.505.50increasedserum
Sodium 135.00145.00decreasedserum
Literature
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