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11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)

11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)
ADRENAL HYPERPLASIA VI; STEROID 11 BETA-HYDROXYLASE DEFICIENCY
202010
OMIM = Online Mendelian Inheritance of Men
90795
Cytochrome P450 11B1, mitochondrial
1.14.15.4
8q24.3
E25.08
rare (1:100000)
autosomal recessive
mutation in the CYP11B1 gene
few reports on non-classical 11OHD because of its mild symptoms [Wang D et al. 2018]
Laboratory findings    11-Deoxycortisol inc (serum)
    Adrenocorticotropic hormone (ACTH) inc (plasma)
    Deoxycorticosterone (DOC) inc (plasma)
    Potassium dec (serum)
    Sodium inc (serum)
    Steroid 11-beta-hydroxylase dec (fibroblasts)
    Tetrahydro-11-deoxycorticosterone inc (urine)
    Tetrahydro-11-deoxycortisol inc (urine)
Symptoms    episodic course (clinical symptoms)
    failure to thrive
    genitalia, ambigous
    growth retardation, poor growth
    gynecomastia
    hirsutism
    hypertension
    hypokalemia
    masculinisation of the female
    onset, infancy
    onset, neonatal
    renal failure, acute/chronic
    virilisation