- 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:90797)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90797)
- Aplasia of the ovary (HP:0010463): Aplasia, that is failure to develop, of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90797)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90797)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90797)
- Increased circulating antimullerian hormone concentration (HP:0031102): An elevation above the normal range of the antimullerian hormone in the circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90797)
- Male sexual dysfunction (HP:0040307): A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90797)
- 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:90797)
- 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: Frequent (HP:0040282). (ORPHA:90797)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90797)
- 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:90797)
- Abnormal circulating estrogen level (HP:0025132): A deviation from normal concentration of the hormone estrogen in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90797)
- 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:90797)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Perineal hypospadias (HP:0000051): Hypospadias with location of the urethral meatus in the perineal region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- 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:90797)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Insulin insensitivity (HP:0008189): Decreased sensitivity toward insulin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Abnormality of secondary sexual hair (HP:0009888): Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Increased serum estradiol (HP:0025134): An elevation above normal limits of the concentration of estradiol in the circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- Fused labia majora (HP:0025486): The outer labia are sealed together. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- 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:90797)
- Germ cell neoplasia (HP:0100728). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90797)
- 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:90797)
These phenotypes are associated with the disease Partial androgen insensitivity syndrome (ORPHA:90797).