Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism.

In this study, we analyzed the entire coding sequence of these genes in 7 dogs (78,XY) with ambiguous external genitalia (hypospadias, cryptorchidism, bifid scrotum, or rudimentary penis). The most common disorder was hypospadias (6 cases), followed by cryptorchidism (4 cases). The co-occurrence of both abnormalities was observed in 3 dogs. Polymorphisms were found in MAMLD1 (3 SNPs), SRD5A2 (5 SNPs), and AR (2 STRs and 1 SNP), while SRY was monomorphic. However, the distribution of the polymorphic variants in the DSD dogs and 11 control XY dogs did not differ significantly. Our study suggests that an association between the polymorphisms of the studied candidate genes and hypospadias or cryptorchidism is unlikely in dogs. We thus support the recent suggestion that hypospadias is not rare in this species, and moreover, we show that co-occurrence of hypospadias and cryptorchidism can be quite frequent. PMID: 31055572 [PubMed - as supplied by publisher]
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research