17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.

@article{Alikaifolu201217betahydroxysteroidDT,
  title={17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.},
  author={Ayfer Alikaşifoğlu and Olaf Hiort and Nazli E Gonc and Huseyin Demirbilek and Emregul Isik and N. Omer Kandemir},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2012},
  volume={25 5-6},
  pages={561-3}
}
17-beta-Hydroxysteroid dehydrogenase type 3 (17betaHSD-3) converts delta4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17betaHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17betaHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on… CONTINUE READING