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) |
Symptoms | adrenal 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 |