| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY | |
| 17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17); 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED | |
|
202110
OMIM = Online Mendelian Inheritance of Men | |
|
90793 | |
| Steroid 17-alpha-hydroxylase/17,20 lyase | |
| 1.14.99.9 | |
| rare (1:50000, >120 cases) autosomal recessive variants in the CYP17A1 gene Combined 17-alpha-Hydroxylase/17,20-Lyase Deficiency - Isolated 17,20-Lyase Deficiency (very rare) females show hypogonadism, males show ambigous genitalia | |
| Laboratory findings | 17-Hydroxyprogesterone dec (plasma) Adrenocorticotropic hormone (ACTH) (serum) Adrenocorticotropic hormone (ACTH) inc (plasma) Aldosterone dec (urine) Corticosterone inc (plasma) Cortisol dec (plasma) Deoxycorticosterone (DOC) inc (plasma) Deoxycorticosterone (DOC) (plasma) Deoxycorticosterone (DOC) inc (urine) Glucocorticoids (plasma) Potassium inc (serum) Pregnenolone inc (plasma) Progesterone inc (plasma) Sodium inc (serum) Tetrahydro-11-deoxycorticosterone inc (urine) Tetrahydro-11-deoxycortisol inc (urine) |
| Symptoms | adrenal hyperplasia amenorrhea cryptorchism episodic course (clinical symptoms) genitalia, ambigous gynecomastia hypertension hypokalemia hypokalemic hypertension metabolic alkalosis onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal osteoporosis puberty, delayed or missing |