- Male infertility (HP:0003251). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Hypoplasia of the vagina (HP:0008726): Developmental hypoplasia of the vagina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- 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:251510)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Streak ovary (HP:0010464): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Abnormal sex determination (HP:0012244): Anomaly of primary or secondary sexual development or characteristics. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Vanishing testis (HP:0012870): A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Decreased serum testosterone concentration (HP:0040171). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- 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:251510)
- 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: Frequent (HP:0040282). (ORPHA:251510)
- Gonadoblastoma (HP:0000150): The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251510)
- 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: Frequent (HP:0040282). (ORPHA:251510)
- Testicular gonadoblastoma (HP:0000030): The presence of a gonadoblastoma of the testis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251510)
- Ovarian gonadoblastoma (HP:0000149): The presence of a gonadoblastoma of the ovary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251510)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251510)
- 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: Occasional (HP:0040283). (ORPHA:251510)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251510)
- Primary gonadal insufficiency (HP:0008193). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251510)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:251510)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:251510)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:251510)
- 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: Very frequent (HP:0040281). (ORPHA:251510)
- Abnormal scrotum morphology (HP:0000045): Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- 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: Very frequent (HP:0040281). (ORPHA:251510)
- 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: Very frequent (HP:0040281). (ORPHA:251510)
- Abnormal labia morphology (HP:0000058): An anomaly of the labia, the externally visible portions of the vulva. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- 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:251510)
- Gonadal dysgenesis (HP:0000133): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Abnormal vagina morphology (HP:0000142): Any structural abnormality of the vagina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Abnormal internal genitalia (HP:0000812): An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Decreased fertility in females (HP:0000868). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- 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:251510)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:251510)
These phenotypes are associated with the disease 46,XY partial gonadal dysgenesis (ORPHA:251510).