Phenotypes associated with the disease Hyperandrogenism due to cortisone reductase deficiency (ORPHA:168588):
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168588)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168588)
- Congenital adrenal hyperplasia (HP:0008258): A type of adrenal hyperplasia with congenital onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168588)
- Elevated serum 11-deoxycortisol (HP:0025436): Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168588)
- Increased circulating androgen concentration (HP:0030348): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168588)
- Abnormal circulating deoxycorticosterone level (HP:0031186): An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168588)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168588)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168588)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168588)
- Premature adrenarche (HP:0012412): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168588)