Phenotypes associated with the disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (ORPHA:90794):
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90794)
- 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:90794)
- 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:90794)
- 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:90794)
- Increased circulating progesterone (HP:0031216): An elevated concentration of progesterone in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90794)
- 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:90794)
- Abnormality of the menstrual cycle (HP:0000140): An abnormality of the ovulation cycle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Abnormal external genitalia morphology (HP:0000811): A structural anomaly of the external genitalia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Hyperactive renin-angiotensin system (HP:0000841): An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- 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:90794)
- Growth abnormality (HP:0001507). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Neonatal hypoglycemia (HP:0001998). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- 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:90794)
- 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:90794)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- 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:90794)
- Hypochloremia (HP:0003113): The concentration of chloride in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- 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:90794)
- Elevated urinary epinephrine level (HP:0003639): The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Premature fusion of the radial epiphyseal plates (HP:0004012): A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- 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:90794)
- 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: Frequent (HP:0040282). (ORPHA:90794)
- Hyperkalemic metabolic acidosis (HP:0005976). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- 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: Frequent (HP:0040282). (ORPHA:90794)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Hypovolemia (HP:0011106): An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Premature pubarche (HP:0012411): The onset of growth of pubic hair at an earlier age than normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Hypocapnia (HP:0012417): Abnormally reduced blood carbon dioxide (CO2) level. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Hypernatriuria (HP:0012605): An increased concentration of sodium(1+) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Increased circulating androstenedione concentration (HP:0025380): Increased concentration of androstenedione in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Abnormal ovarian physiology (HP:0031066): Any anomaly of ovarian function. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Abnormal circulating dehydroepiandrosterone concentration (HP:0500022): A deviation from the normal concentration of dehydroepiandrosterone in the circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90794)
- Long penis (HP:0000040): Penile length more than 2 SD above the mean for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- 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: Occasional (HP:0040283). (ORPHA:90794)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- 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:90794)
- Frontal balding (HP:0002292): Absence of hair in the anterior midline and/or parietal areas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- 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:90794)
- Premature adrenarche (HP:0012412): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- 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:90794)
- Fused labia majora (HP:0025486): The outer labia are sealed together. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- Shock (HP:0031273): The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)
- Urogenital sinus anomaly (HP:0100779): A rare birth defect in women where the urethra and vagina both open into a common channel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90794)