46,XY sex reversal 1- MedGen UID:
- 412662
- •Concept ID:
- C2748896
- •
- Disease or Syndrome
Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.
Spermatogenic failure, X-linked, 6- MedGen UID:
- 1840198
- •Concept ID:
- C5829562
- •
- Disease or Syndrome
X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).