Phenotypes associated with the disease spermatogenic failure 14 (OMIM:615842):
- Abnormal circulating luteinizing hormone concentration (HP:0030345): An anomaly of the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 0/3. (PMID:24431330)
- Round spermatid arrest (HP:0031040): A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa. Evidence: PCS. Frequency: 3/3. (PMID:24431330)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:24431330)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:24431330)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:24431330)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/3. (PMID:24431330)
- 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:24431330)
- Abnormal prolactin level (HP:0040086). Evidence: PCS. Frequency: 0/3. (PMID:24431330)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 3/3. (PMID:24431330)