Article
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
The Journal of clinical endocrinology and metabolism - 1 Dec 1999
Boehmer A L, Brinkmann A O, Sandkuijl L A, Halley D J, Niermeijer M F, Andersson S, de Jong F H, Kayserili H, de Vroede M A, Otten B J, Rouwé C W, Mendonça B B, Rodrigues C, Bode H H, de Ruiter P E, Delemarre-van de Waal H A, Drop S L
Abstract excerpt
17Beta-hydroxysteroid dehydrogenase-3 (17betaHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the HSD17B3 gene. In a nationwide study on male pseudohermaphroditism among all pediatric endocrinologists and clinical geneticists in The Netherlands, 18 17betaHSD3-deficient index cases were identified, 12 of whom initially had received the tentative diagnosis...
Topics
- 17-Hydroxysteroid Dehydrogenases
- Androstenedione
- Disorders of Sex Development
- Gene Frequency
- Genetics, Population
- Haplotypes
- Heterozygote
- Homozygote
- Humans