- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: PCS. Frequency: 1/1. (PMID:8445027)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: PCS. Frequency: 1/1. (PMID:8445027)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. (OMIM:615962)
- Increased circulating androstenedione concentration (HP:0025380): Increased concentration of androstenedione in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:8445027)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: 1/1. (OMIM:615962)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:8445027)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:615962)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. (OMIM:615962)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:615962)
- 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. (OMIM:615962)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. (OMIM:615962)
- 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: PCS. Frequency: 3/3. (PMID:8445027)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:1704018)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. (OMIM:615962)
These phenotypes are associated with the disease glucocorticoid resistance (OMIM:615962).