Spermatogenic failure 2- MedGen UID:
- 400056
- •Concept ID:
- C1862459
- •
- Finding
Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia (Tang et al., 2020; Akbari et al., 2021).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
46,XY sex reversal 5- MedGen UID:
- 414349
- •Concept ID:
- C2751317
- •
- Disease or Syndrome
Spermatogenic failure 13- MedGen UID:
- 862886
- •Concept ID:
- C4014449
- •
- Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.
Spermatogenic failure 14- MedGen UID:
- 862891
- •Concept ID:
- C4014454
- •
- Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.
Spermatogenic failure 15- MedGen UID:
- 934746
- •Concept ID:
- C4310779
- •
- Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.
Spermatogenic failure 77- MedGen UID:
- 1824018
- •Concept ID:
- C5774245
- •
- Disease or Syndrome
Spermatogenic failure-77 (SPGF77) is characterized by male infertility due to extreme oligozoospermia or azoospermia. Nearly all spermatozoa present on semen analysis are morphologically abnormal, with amorphous, enlarged, and/or fragmented heads, and some are multiflagellated. Testicular tissue shows arrest at the round spermatid stage (Wyrwoll et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).