Article
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
International journal of molecular sciences - 2 Sept 2022
Gonçalves Catarina I, Carriço Josianne, Bastos Margarida, Lemos Manuel C
Abstract excerpt
The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (DSD). We describe a child raised as a female in whom the discovery of testes in the inguinal canals led to a genetic...
Topics
- 17-Hydroxysteroid Dehydrogenases
- Child
- Disorder of Sex Development, 46,XY
- Female
- Gynecomastia
- Humans
- Male
- Mutation
- Sexual Development
- Steroid Metabolism, Inborn Errors
- Testosterone