Phenotypes associated with the disease 46,XY sex reversal 1 (OMIM:400044):
- Abnormal female external genitalia morphology (HP:0000055): Any structural abnormality of the female external genitalia. Evidence: IEA. (OMIM:400044)
- Abnormal male external genitalia morphology (HP:0000032): Any structural abnormality of male external genitalia. Evidence: IEA. (OMIM:400044)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: IEA. (OMIM:400044)
- 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: IEA. (OMIM:400044)
- 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: PCS. (PMID:12793612)
- 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: IEA. (OMIM:400044)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 1/1. (PMID:2247151)
- Y-linked inheritance (HP:0001450): A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. Evidence: PCS. (PMID:12793612)
- Abnormality of the menstrual cycle (HP:0000140): An abnormality of the ovulation cycle. Evidence: IEA. (OMIM:400044)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 1/1. (PMID:2247151)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: IEA. (OMIM:400044)
- 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: PCS. Frequency: 1/1. (PMID:2247151)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 1/1. (PMID:2247151)
- Gonadal dysgenesis with female appearance, male (HP:0008723): Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. Evidence: PCS. Frequency: 1/1. (PMID:2247151)
- 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: IEA. (OMIM:400044)
- Primary amenorrhea (HP:0000786). Evidence: IEA. Frequency: 1/1. (OMIM:400044)