Total 30 clinical symptoms reported for Deficiency of steroid 11-beta-monooxygenase
| Accelerated skeletal maturation |
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Advanced bone age; Early bone maturation |
Very frequent |
| Ambiguous genitalia |
Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Synonyms:Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia |
Very frequent |
| Decreased circulating cortisol level |
Abnormally reduced concentration of cortisol in the blood.
Synonyms:Decreased cortisol production; Glucocorticoid insufficiency; Hypocortisolemia; Low blood cortisol level; Low to undetectable plasma cortisol; Plasma cortisol low |
Very frequent |
| Decreased circulating renin concentration |
An decreased level of renin in the blood.
Synonyms:Decreased circulating renin level; Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity |
Very frequent |
| Elevated circulating 17-hydroxyprogesterone concentration |
An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.
Synonyms:Elevated circulating 17-hydroxyprogesterone; Elevated circulating 17-OHP |
Very frequent |
| Growth abnormality |
Synonyms:Abnormal growth; Growth abnormality; Growth issue |
Very frequent |
| Hypertension |
The presence of chronic increased pressure in the systemic arterial system.
Synonyms:Arterial hypertension; Systemic hypertension |
Very frequent |
| Increased circulating androgen concentration |
An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
Synonyms:Hyperandrogenemia; Increased circulating androgen level |
Very frequent |
| Increased circulating androstenedione concentration |
Increased concentration of androstenedione in the blood circulation.
Synonyms:Increased serum androstenedione |
Very frequent |
| Increased urinary 11-deoxycorticosterone level |
An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.
|
Very frequent |