Infant with 3 beta hydroxysteroid dehydrogenase deficiency

Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency in young girls with hirsutism and premature pubarche.

Two young girls with hirsutism and premature pubarche showed nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. Post-ACTH increased serum delta 5-17-hydroxypregnenolone and increased ratio of delta 5-17-hydroxypregnenolone/17-hydroxyprogesterone are the most sensitive indicators of nonclassical 3 beta-HSD deficiency. Nonclassical 3 beta-HSD deficiency may not be uncommon,...

Expression of Recombinant 3-Beta Hydroxysteroid Dehydrogenase Protein in E. coli

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia. Such individuals are usually raised as females, but virilize at the time of expected puberty as the result of increases in serum testosterone. Here we describe mutations in 12 additional subjects/...

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

17-beta hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to varying degrees of undervirilization of the affected male, ran...

Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up.