Phenotypes associated with the disease 46,XY sex reversal 11 (OMIM:273250):
- 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. (OMIM:273250)
- Absence of pubertal development (HP:0008197). Evidence: PCS. (PMID:31337883)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. (PMID:31337883)
- Urogenital sinus anomaly (HP:0100779): A rare birth defect in women where the urethra and vagina both open into a common channel. Evidence: PCS. Frequency: 1/9. (PMID:31337883)
- 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: PCS. (PMID:31337883)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. (PMID:31337883)
- Decreased serum testosterone concentration (HP:0040171). Evidence: PCS. (PMID:31337883)
- Abnormal internal genitalia (HP:0000812): An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). Evidence: IEA. (OMIM:273250)
- Decreased circulating antimullerian hormone circulation (HP:0031103): A reduction below the normal range of the antimullerian hormone in the circulation. Evidence: PCS. (PMID:31337883)
- 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: IEA. Frequency: 7/9. (PMID:31337883)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:31337883)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 2/9. (PMID:31337883)