Phenotypes associated with the disease spermatogenic failure 101 (OMIM:621269):
- Abnormal serum estradiol (HP:0025133): A deviation from normal concentrations of estradiol in the circulation. Evidence: PCS. Frequency: 0/4. (PMID:33988247)
- Abnormal circulating follicle-stimulating hormone concentration (HP:0030346): An anomaly of the circulating level of follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 0/4. (PMID:33988247)
- Abnormal circulating luteinizing hormone concentration (HP:0030345): An anomaly of the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 0/4. (PMID:33988247)
- Low semen volume (HP:6000135): Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit. Evidence: PCS. Frequency: 0/4. (PMID:33988247)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. (PMID:33988247)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:33988247)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/3. (PMID:33988247)
- Decreased serum testosterone concentration (HP:0040171). Evidence: PCS. Frequency: 1/1. (PMID:33988247)
- 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:33988247)
- 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: 4/4. (PMID:33988247)