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Items: 6

1.

Spermatogenic failure 25

Spermatogenic failure-25 (SPGF25) is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1646677
Concept ID:
C4693765
Disease or Syndrome
2.

Spermatogenic failure 88

Spermatogenic failure-88 (SPGF88) is characterized by male infertility due to prepachytene meiotic arrest (Wu et al., 2022; Yang et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1845113
Concept ID:
C5882706
Disease or Syndrome
3.

Spermatogenic failure 61

Spermatogenic failure-61 (SPGF61) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete meiotic arrest at the primary spermatocyte stage (Riera-Escamilla et al., 2019;van der Bijl et al., 2019). Mutation in the STAG3 gene also causes premature ovarian failure (POF8; 615723), resulting in female infertility. For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1794258
Concept ID:
C5562048
Disease or Syndrome
4.

Spermatogenic failure 75

Spermatogenic failure-75 (SPGF75) is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage (Krausz et al., 2020; Yao et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1804291
Concept ID:
C5677014
Disease or Syndrome
5.

Spermatogenic failure 62

Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage (Riera-Escamilla et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1794259
Concept ID:
C5562049
Disease or Syndrome
6.

Spermatocyte maturation arrest

A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. [from HPO]

MedGen UID:
1372736
Concept ID:
C4476925
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