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3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
ADRENAL HYPERPLASIA II; STEROID 3 BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
201810
OMIM = Online Mendelian Inheritance of Men
90791
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
1.1.1.145
1p12

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E25.0
rare
autosomal recessive
mutation in the HSD3B2 gene
near total absence of adrenal steroids diagnosis may be difficult in milder deficiencies provocative testing with ACTH in milder forms elevated ratio of delta5 to delta4 steroids are diagnostic
Laboratory findings   17-Hydoxypregnenolone [+] inc (urine)
   17-Hydoxypregnenolone [+] inc (plasma)
   Adrenocorticotropic hormone (ACTH) inc (plasma)
   Cortisol dec (plasma)
   Dehydroepiandrosterone (DHEA) inc (plasma)
   Potassium inc (serum)
   Sodium decreased (serum)
    17-Hydroxyprogesterone (plasma)
    17-Ketosteroids inc (plasma)
    17-Ketosteroids inc (urine)
    D-Glucose normal/dec (serum)
    Pregnenolone inc (plasma)
    Pregnenolone inc (urine)
Symptomsadrenal hyperplasia
clitoral hypertrophy
cryptorchism
genitalia, ambigous
virilisation
   adrenal insufficiency
   dehydration
    cirrhosis or fibrosis of liver
    hyperkalemia
    hyperpigmentation
    hypoglycemia
    hypospadia
    masculinisation of the female
    no clinical symptoms (probably)
    onset, childhood
    onset, infancy
    onset, neonatal
    vomiting