MON-066 17B-hydroxysteroid dehydrogenase Type 3 Deficiency: An Under-Recognized Cause of 46,XY DSD in the United States?

3b-Hydroxysteroid Dehydrogenase/D-Isomerase Activity Associated with the Human 17b-Hydroxysteroid Dehydrogenase Type 2 Isoform*

The type 2 isoform of human 17b-hydroxysteroid dehydrogenase (17bHSD2) efficiently catalyzes the oxidative metabolism of androgens and estrogens, and it is expressed in a large series of human peripheral tissues. To obtain a better understanding of the regulation of local steroid biosynthesis and metabolism in human tissues, we have established a dual steroidogenic activity of the 17bHSD2 enzym...

3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.

3β-hydroxysteroid dehydrogenase II (3β-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) are characteristic, but extra-adrenal conversion to 17-hydroxyprogesterone (17OHP) may lead to positive results on newborn screening tests. Filter pape...

An under-recognized cause of polyarthritis: leprosy.

An under recognized cause of chest pain

Aortic intramural hematoma (IMH) is related to but is pathologically distinct from aortic dissection. In this potentially lethal entity, there is hemorrhage into the aortic media in the absence of an intimal tear. With recent advances in imaging techniques, IMH is now increasingly recognized. The limited data available suggest that the clinical course of IMH mimics that of acute aortic dissecti...

17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Diagnosis, Phenotypic Variability and Molecular Findings

The steroid hormones are lipophilic compounds with low molecular weight, derived from cholesterol, which play a crucial role in differentiation, development and physiological functions of many tissues. They are synthesized primarily by endocrine glands, such as the gonads, the adrenal glands and the feto-placental unit during pregnancy. In addition, the central nervous system (CNS) seems to be ...