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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
mutation in the CYP11B1 gene
symptoms
failure to thrive
genitalia, ambigous
growth retardation, poor growth
gynecomastia
hypertension
hypokalaemia
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 3.505.50mmol/mol creatinineserum
Sodium 135.00145.00mmol/lseruminfant
Literature
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