Phenotypes associated with the disease Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791):
- Congenital adrenal hyperplasia (HP:0008258): A type of adrenal hyperplasia with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90791)
- Ambiguous genitalia, male (HP:0000033): Ambiguous genitalia in an individual with XY genetic gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- 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:90791)
- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- 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: Frequent (HP:0040282). (ORPHA:90791)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- 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:90791)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Neonatal hypoglycemia (HP:0001998). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- 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:90791)
- Decreased fertility in males (HP:0012041). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Increased circulating androstenedione concentration (HP:0025380): Increased concentration of androstenedione in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- 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: Frequent (HP:0040282). (ORPHA:90791)
- Decreased serum testosterone concentration (HP:0040171). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Abnormal circulating dehydroepiandrosterone concentration (HP:0500022): A deviation from the normal concentration of dehydroepiandrosterone in the circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90791)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or 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: Occasional (HP:0040283). (ORPHA:90791)
- Male pseudohermaphroditism (HP:0000037): Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- 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:90791)
- 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:90791)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Premature adrenarche (HP:0012412): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Neonatal asphyxia (HP:0012768): Respiratory failure in the newborn. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)
- Abnormal labia majora morphology (HP:0012881): An anomaly of the outer labia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90791)