Phenotypes associated with the disease spermatogenic failure, X-linked, 9 (OMIM:301137, an entry in Online Mendelian Inheritance in Man):
- Neoplasm (HP:0002664, a Human Phenotype Ontology term): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: PCS. Frequency: 0/1. (PMID:37843278)
- Elevated circulating luteinizing hormone level (HP:0011969, a Human Phenotype Ontology term): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Elevated circulating follicle stimulating hormone level (HP:0008232, a Human Phenotype Ontology term): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Lymphadenopathy (HP:0002716, a Human Phenotype Ontology term): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 0/2. (PMID:37843278)
- Decreased serum testosterone concentration (HP:0040171, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Leydig cell neoplasia (HP:0100618, a Human Phenotype Ontology term): The presence of a neoplasm of the testis with origin in a Leydig cell. Evidence: PCS. Frequency: 1/1. (PMID:37843278)
- X-linked inheritance (HP:0001417, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:35809576)
- Decreased testicular size (HP:0008734, a Human Phenotype Ontology term): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Spermatogenesis maturation arrest (HP:0031038, a Human Phenotype Ontology term): Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. Evidence: PCS. Frequency: 2/2. (PMID:37843278)
- Non-obstructive azoospermia (HP:0011961, a Human Phenotype Ontology term): Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. Evidence: PCS. Frequency: 2/2. (PMID:37843278)