Phenotypes associated with the disease 46,XY sex reversal 3 (OMIM:612965):
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: PCS. Frequency: 1/4. Onset: Congenital onset (HP:0003577). (PMID:17200175)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:612965)
- 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: PCS. (PMID:17200175)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 2/4. (PMID:17200175)
- Sex-limited expression (HP:0001470): Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex. Evidence: PCS. (PMID:17200175)
- 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. Frequency: Occasional (HP:0040283). (PMID:17200175)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:17200175)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:17200175)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: PCS. Frequency: 1/4. (PMID:17200175)
- Exaggerated rugosity of the labia majora (HP:0030913): Marked rugae formation of the skin of the labia majora. Evidence: PCS. Frequency: 1/4. (PMID:17200175)