In it, he wrote about a" hitherto undescribed steroid pattern for the salt-losing adrenogenital
syndrome," which he had observed in three infants. In the urine of these patients, who had …

Studies within the Arab population in Israel revealed 25 pseudohermaphrodites due to 17β-
hydroxysteroid dehydrogenase (17β-HSD) deficiency. Twenty-three individuals, presently …

Abstract Background: 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an
autosomal recessive disorder with diminished testosterone synthesis and consequently …

Abstract 17β-hydroxisteroid-dehydrogenase deficiency is a rare autosomal recessive form of
male pseudohermaphroditism, due to mutations in the 17β-hydroxisteroid-dehydrogenase …

In the siblings reported, two affected boys have perineal hypospadias and bifid scrotum, and
two affected girls have slight clitoral enlargement with otherwise normal genitalia. All are …

Incomplete masculinization due to a deficiency of 17β‐hydroxysteroid dehydrogenase (17β‐
HSD) was investigated in siblings aged 4 years (Case 1) and 12 years (Case 2). Diagnosis …

Five known~ s~ nzymes catalyze the 17~-hydroxyster~ id dehydrugen~ e reaction that
controls the interconversion of estrone and estradiol and of testosterone and …

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 …

A 31-yr-old male pseudohermaphrodite is reported with 17β-hydroxysteroid dehydrogenase
deficiency. Laboratory data revealed a plasma testosterone of 228 ng/100 ml, a plasma …