Phenotypes associated with the disease Generalized glucocorticoid resistance syndrome (ORPHA:786):
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:786)
- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:786)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:786)
- Increased urinary cortisol level (HP:0012030): Abnormally increased concentration of cortisol in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:786)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:786)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Adrenal hyperplasia (HP:0008221): Enlargement of the adrenal gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Metabolic alkalosis (HP:0200114): Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:786)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- 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:786)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- Frontal balding (HP:0002292): Absence of hair in the anterior midline and/or parietal areas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- Increased circulating cortisol level (HP:0003118): Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- Female pseudohermaphroditism (HP:0010458): Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:786)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:786)