Phenotypes associated with the disease 46,XX sex reversal 1 (OMIM:400045):
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: IEA. (OMIM:400045)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: TAS. (OMIM:400045)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: IEA. (OMIM:400045)
- Ovotestis (HP:0012861): A gonad that contains both ovarian follicles and testicular tubular elements. Evidence: IEA. (OMIM:400045)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: IEA. (OMIM:400045)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: IEA. (OMIM:400045)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: IEA. (OMIM:400045)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: IEA. (OMIM:400045)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: TAS. (OMIM:400045)
- True hermaphroditism (HP:0010459): The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. Evidence: TAS. (OMIM:400045)
- 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: IEA. (OMIM:400045)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: IEA. (OMIM:400045)