Phenotypes associated with the disease spermatogenic failure 96 (OMIM:621001):
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:35285020;PMID:34392356)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:35285020;PMID:34392356)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/2. (PMID:35285020)
- 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:34392356)
- Non-obstructive azoospermia (HP:0011961): 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: 3/3. (PMID:35285020;PMID:34392356)
- Spermatocyte maturation arrest (HP:0031039): A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. Evidence: PCS. Frequency: 1/1. (PMID:35285020)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 0/2. (PMID:35285020)
- Abnormal circulating gonadotropin concentration (HP:0030338): An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 0/2. (PMID:35285020)