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Items: 11

1.

Spermatogenic failure 57

Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1794198
Concept ID:
C5561988
Disease or Syndrome
2.

Spermatogenic failure 15

Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. [from MONDO]

MedGen UID:
934746
Concept ID:
C4310779
Disease or Syndrome
3.

Spermatogenic failures 50

Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1747507
Concept ID:
C5436888
Disease or Syndrome
4.

Spermatogenic failure, X-linked, 2

Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. [from MONDO]

MedGen UID:
374322
Concept ID:
C1839841
Disease or Syndrome
5.

Spermatogenic failure 73

Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest (Li et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1801127
Concept ID:
C5676988
Disease or Syndrome
6.

Spermatogenic failure 48

Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported (Wyrwoll et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

MedGen UID:
1761843
Concept ID:
C5436823
Disease or Syndrome
7.

Spermatogenic failure 60

Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1794245
Concept ID:
C5562035
Disease or Syndrome
8.

Spermatogenic failure 30

Spermatogenic failure-30 (SPGF30) is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

MedGen UID:
1648394
Concept ID:
C4748224
Disease or Syndrome
9.

Spermatogenic failure 59

Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest (Salas-Huetos et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1794244
Concept ID:
C5562034
Disease or Syndrome
10.

Spermatogenic failure 74

Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1812069
Concept ID:
C5677010
Disease or Syndrome
11.

Spermatogenesis maturation arrest

Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. [from HPO]

MedGen UID:
1374029
Concept ID:
C4477100
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