- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Ambiguous genitalia, male (HP:0000033): Ambiguous genitalia in an individual with XY genetic gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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:168558)
- Abnormality of prenatal development or birth (HP:0001197): An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Acidosis (HP:0001941): Abnormal acid accumulation or depletion of base. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Neonatal hypoglycemia (HP:0001998). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Abnormal circulating cholesterol concentration (HP:0003107): Any deviation from the normal concentration of cholesterol in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Generalized hyperpigmentation (HP:0007440). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Generalized bronze hyperpigmentation (HP:0007574). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Low maternal circulating estriol concentration (HP:0008073): An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Abnormality of the Leydig cells (HP:0010789). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Hypovolemia (HP:0011106): An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Abnormal sex determination (HP:0012244): Anomaly of primary or secondary sexual development or characteristics. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Abnormal urine potassium concentration (HP:0012598): An abnormal concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Hypernatriuria (HP:0012605): An increased concentration of sodium(1+) in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- Decreased circulating androgen concentration (HP:0030349): A reduction in 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:168558)
- Induced vaginal delivery (HP:0030369): Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168558)
- 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: Very frequent (HP:0040281). (ORPHA:168558)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168558)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168558)
- 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:168558)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168558)
- Abnormal vagina morphology (HP:0000142): Any structural abnormality of the vagina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168558)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168558)
- Midshaft hypospadias (HP:0012854): Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168558)
These phenotypes are associated with the disease 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558).