Phenotypes associated with the disease 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (OMIM:264300):
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: IEA. (OMIM:264300)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:264300)
- Infertility (HP:0000789). Evidence: IEA. (OMIM:264300)
- 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: PCS. Frequency: 15/18. Onset: Congenital onset (HP:0003577). (PMID:10599740)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10599740)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: IEA. (OMIM:264300)
- 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:264300)