- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Congenital adrenal hyperplasia (HP:0008258): A type of adrenal hyperplasia with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Abnormal response to ACTH stimulation test (HP:0031074): An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Increased urinary 11-deoxycorticosterone level (HP:0032330): An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Increased circulating corticosterone level (HP:0032362): An abnormally elevated concentration of corticosterone in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Decreased serum testosterone concentration (HP:0040171). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Abnormal circulating dehydroepiandrosterone concentration (HP:0500022): A deviation from the normal concentration of dehydroepiandrosterone in the circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90793)
- Male hypogonadism (HP:0000026): Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- 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:90793)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Absence of pubertal development (HP:0008197). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Adrenocorticotropic hormone excess (HP:0011749): Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Increased circulating progesterone (HP:0031216): An elevated concentration of progesterone in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90793)
- Ambiguous genitalia, male (HP:0000033): Ambiguous genitalia in an individual with XY genetic gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Primary adrenal insufficiency (HP:0008207): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Female external genitalia in individual with 46,XY karyotype (HP:0008730): The presence of female external genitalia in a person with a male karyotype. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Precocious puberty in females (HP:0010465): The onset of puberty before the age of 8 years in girls. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
- Blind vagina (HP:0040314): The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90793)
These phenotypes are associated with the disease Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (ORPHA:90793).