Phenotypes associated with the disease Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795):
- 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: Very frequent (HP:0040281). (ORPHA:90795)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- Growth abnormality (HP:0001507). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated 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: Very frequent (HP:0040281). (ORPHA:90795)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- Increased circulating androstenedione concentration (HP:0025380): Increased concentration of androstenedione in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- 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: Very frequent (HP:0040281). (ORPHA:90795)
- Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213): An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90795)
- 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:90795)
- Long penis (HP:0000040): Penile length more than 2 SD above the mean for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- 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: Frequent (HP:0040282). (ORPHA:90795)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- 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:90795)
- 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: Frequent (HP:0040282). (ORPHA:90795)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Isosexual precocious puberty (HP:0008236). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Premature pubarche (HP:0012411): The onset of growth of pubic hair at an earlier age than normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Premature adrenarche (HP:0012412): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90795)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90795)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90795)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90795)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90795)
- Testicular adrenal rest tumor (HP:0025451): Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90795)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90795)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90795)
- Premature thelarche (HP:0010314): Premature development of the breasts. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90795)