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Items: 8

1.

Spermatogenic failure 16

Spermatogenic failure-16 (SPGF16) is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by Zhu et al., 2016). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
934641
Concept ID:
C4310674
Disease or Syndrome
2.

Spermatogenic failure 31

SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

MedGen UID:
1648419
Concept ID:
C4748234
Disease or Syndrome
3.

Spermatogenic failure 21

Spermatogenic failure-21 (SPGF21) is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1617056
Concept ID:
C4539991
Disease or Syndrome
4.

Spermatogenic failure 86

Spermatogenic failure-86 (SPGF86) is characterized by male infertility due to acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. Some oocytes exhibit early embryonic arrest after successful fertilization with patient sperm using assisted reproductive technology (Xin et al., 2020; Wang et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1847370
Concept ID:
C5882755
Disease or Syndrome
5.

Spermatogenic failure 44

Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1750188
Concept ID:
C5436678
Disease or Syndrome
6.

Spermatogenic failure 26

Spermatogenic failure-26 (SPGF26) is characterized by acephalic spermatozoa due to breakage that occurs in the midpiece of the sperm (Sha et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1644751
Concept ID:
C4693773
Disease or Syndrome
7.

Spermatogenic failure 85

Spermatogenic failure-85 (SPGF85) is characterized by male infertility due to globozoospermia and reduced progressive motility (Chen et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1849976
Concept ID:
C5882685
Disease or Syndrome
8.

Acephalic spermatozoa

Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. [from HPO]

MedGen UID:
868304
Concept ID:
C4022698
Disease or Syndrome
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