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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (CAH)

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (CAH)
ADRENAL HYPERPLASIA III; STEROID 21-HYDROXYLASE DEFICIENCY
201910
OMIM = Online Mendelian Inheritance of Men
90794
steroid 21-hydroxylase
1.14.99.10
6p21.33

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E25.00
1:500 - 1:5000
autosomal recessive
mutation in the CYP21A2 gene
simple virilizing form - salt loosing form - attenuated form
Laboratory findings17-Hydroxyprogesterone inc (plasma)
17-Ketosteroids inc (plasma)
17-Ketosteroids inc (urine)
Potassium inc (serum)
   17-Hydroxyprogesterone inc (urine)
   Adrenocorticotropic hormone (ACTH) inc (plasma)
   Aldosterone decreased (plasma)
   Dehydroepiandrosterone (DHEA) inc (plasma)
   Progesterone inc (plasma)
   Renin activity (PRA) or renin inc (plasma)
   Sodium dec (serum)
    21-Deoxycortisol inc (plasma)
    Androstenedione inc (plasma)
    Cortisol dec (serum)
    D-Glucose dec (serum)
    pH inc (blood)
    Pregnanediol inc (urine)
Symptomsshort stature
 masculinisation of the female
  adrenal hyperplasia
  genitalia, ambigous
   clitoral hypertrophy
   dehydration
   hyperkalemia
   virilisation
    diarrhea
    ECG abnormalities [-]
    fever
    hyperpigmentation
    hypoglycemia
    hypotonia
    metabolic alkalosis
    onset, adolescent
    onset, adulthood
    onset, childhood
    onset, infancy
    onset, neonatal
    ultrasound, abdominal, abnormal
    vomiting