Spermatogenic failure, X-linked, 2- MedGen UID:
- 374322
- •Concept ID:
- C1839841
- •
- Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the TEX11 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 30- MedGen UID:
- 1648394
- •Concept ID:
- C4748224
- •
- Disease or Syndrome
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.
Spermatogenic failure 48- MedGen UID:
- 1761843
- •Concept ID:
- C5436823
- •
- Disease or Syndrome
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.
Spermatogenic failures 50- MedGen UID:
- 1747507
- •Concept ID:
- C5436888
- •
- Disease or Syndrome
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).
Spermatogenic failure 57- MedGen UID:
- 1794198
- •Concept ID:
- C5561988
- •
- Disease or Syndrome
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).
Spermatogenic failure 59- MedGen UID:
- 1794244
- •Concept ID:
- C5562034
- •
- Disease or Syndrome
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).
Spermatogenic failure 60- MedGen UID:
- 1794245
- •Concept ID:
- C5562035
- •
- Disease or Syndrome
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).
Spermatogenic failure 73- MedGen UID:
- 1801127
- •Concept ID:
- C5676988
- •
- Disease or Syndrome
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).
Spermatogenic failure 74- MedGen UID:
- 1812069
- •Concept ID:
- C5677010
- •
- Disease or Syndrome
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).