OMIA:002777 : XY difference of sexual development, HSD17B3-related

Categories: Reproductive system phene

Possible human homologues (MIM numbers): 264300 (trait) , 605573 (gene)

Links to relevant human diseases in MONDO:

Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the HSD17B3 gene. "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [ NCIT : C120203 ]

Species in which this phene is found:
dog (Canis lupus familiaris)

Edit History


  • Created by Imke Tammen2 on 28 Sep 2023
  • Changed by Imke Tammen2 on 28 Sep 2023
  • Changed by Imke Tammen2 on 01 Nov 2023