- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Abnormal circulating hormone concentration (HP:0003117): Concentration of a hormone in the blood circulation outside of normal limits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Breast hypoplasia (HP:0003187): Underdevelopment of the breast. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Marked delay in bone age (HP:0003799). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Absence of pubertal development (HP:0008197). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Enlarged polycystic ovaries (HP:0008675). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:785)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:785)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:785)
- 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:785)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:785)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:785)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:785)
- Elevated tissue non-specific alkaline phosphatase (HP:0010679): An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:785)
These phenotypes are associated with the disease Estrogen resistance syndrome (ORPHA:785).
The following phenotypes are NOT associated with this disease:
- Abnormality of the adrenal glands (HP:0000834): Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. Evidence: TAS. (ORPHA:785)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: TAS. (ORPHA:785)
- Abnormality of the pubic hair (HP:0100133): Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. Evidence: TAS. (ORPHA:785)