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 findings | 17-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) |
Symptoms | short 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 |